ICON: The early diagnosis of congenital immunodeficiencies

Journal of Clinical Immunology

Volumn 34, Issue 4, 2014, Pages 398-424

  Routes, John ^a,t   Abinun, Mario ^b   Al Herz, Waleed ^c   Bustamante, Jacinta ^d   Condino Neto, Antonio ^e   De La Morena, Maria Teresa ^f   Etzioni, Amos ^g   Gambineri, Eleonora ^h   Haddad, Elie ⁱ   Kobrynski, Lisa ^j   Le Deist, Francoise ⁱ   Nonoyama, Shigeaki ^k   Oliveira, Joao Bosco ^l   Perez, Elena ^m   Picard, Capucine ^d,n   Rezaei, Nima ^o,p   Sleasman, John ^q   Sullivan, Kathleen E ^r   Torgerson, Troy ^s  

^a MEDICAL COLLEGE OF WISCONSIN   (United States)

^b NEWCASTLE UPON TYNE HOSPITALS NHS FOUNDATION TRUST   (United Kingdom)

^c KUWAIT UNIVERSITY   (Kuwait)

^d IMAGINE INSTITUTE   (France)

^e UNIVERSITY OF SÃO PAULO   (Brazil)

^f UNIVERSITY OF TEXAS SOUTHWESTERN MEDICAL CENTER   (United States)

^g TECHNION ISRAEL INSTITUTE OF TECHNOLOGY   (Israel)

^h UNIVERSITY OF FLORENCE   (Italy)

ⁱ UNIVERSITY OF MONTREAL   (Canada)

^j EMORY UNIVERSITY SCHOOL OF MEDICINE   (United States)

^k NATIONAL DEFENSE MEDICAL COLLEGE   (Japan)

^l INSTITUTO DE MEDICINA INTEGRAL PROF FERNANDO FIGUEIRA   (Brazil)

^m UNIVERSITY OF MIAMI MILLER SCHOOL OF MEDICINE   (United States)

ⁿ HÔPITAL NECKER ENFANTS MALADES   (France)

^o TEHRAN UNIVERSITY OF MEDICAL SCIENCES   (Iran)

^p TEHRAN UNIVERSITY OF MEDICAL SCIENCES   (Iran)

^q DUKE UNIVERSITY SCHOOL OF MEDICINE   (United States)

^r CHILDREN S HOSPITAL OF PHILADELPHIA   (United States)

^s UNIVERSITY OF WASHINGTON SCHOOL OF MEDICINE   (United States)

^t Midwest Athletes Against Childhood Cancer Inc   (United States)

more..

Author keywords

combined immunodeficiencies; consensus; diagnosis; global consensus; Primary immunodeficiencies; severe combined immunodeficiencies; treatment

Indexed keywords

ATAXIA TELANGIECTASIA; AUTOIMMUNITY; AUTOINFLAMMATORY DISEASE; B LYMPHOCYTE; CHROMOSOME DELETION 22Q11; CHRONIC GRANULOMATOUS DISEASE; COMPLEMENT DEFICIENCY; DISEASE ASSOCIATION; DISEASE PREDISPOSITION; EARLY DIAGNOSIS; ENTEROPATHY; GENETIC DISORDER; HUMAN; HUMORAL IMMUNE DEFICIENCY; HYPER IGE SYNDROME; IMMUNE DEFICIENCY; IMMUNE DYSREGULATION; IMMUNE SYSTEM; INNATE IMMUNITY; LEUKOCYTE ADHERENCE; PHAGOCYTE DYSFUNCTION; POLYENDOCRINOPATHY; PRIORITY JOURNAL; REVIEW; SEVERE CONGENITAL NEUTROPENIA; SIGNAL TRANSDUCTION; T LYMPHOCYTE; WISKOTT ALDRICH SYNDROME; X LINKED AGAMMAGLOBULINEMIA; CLASSIFICATION; DRUG EFFECTS; GENE EXPRESSION; GENETICS; IMMUNOLOGIC DEFICIENCY SYNDROMES; IMMUNOLOGY; MUTATION; NEWBORN; NEWBORN SCREENING; OPPORTUNISTIC INFECTIONS; PATHOLOGY; PROCEDURES; UTILIZATION;

COMPLEMENT; IMMUNOLOGIC FACTOR; TOLL LIKE RECEPTOR; TUMOR NECROSIS FACTOR RECEPTOR ASSOCIATED FACTOR;

AUTOIMMUNITY; B-LYMPHOCYTES; COMPLEMENT SYSTEM PROTEINS; EARLY DIAGNOSIS; GENE EXPRESSION; HUMANS; IMMUNOLOGIC DEFICIENCY SYNDROMES; IMMUNOLOGIC FACTORS; INFANT, NEWBORN; MUTATION; NEONATAL SCREENING; OPPORTUNISTIC INFECTIONS; SIGNAL TRANSDUCTION; T-LYMPHOCYTES; TOLL-LIKE RECEPTORS; TUMOR NECROSIS FACTOR RECEPTOR-ASSOCIATED PEPTIDES AND PROTEINS;

EID: 84901423053     PISSN: 02719142     EISSN: 15732592     Source Type: Journal    
DOI: 10.1007/s10875-014-0003-x     Document Type: Review

References (254)

1. Chou J, Hanna-Wakim R, Tirosh I, Kane J, Fraulino D, Lee YN, et al. A novel homozygous mutation in recombination activating gene 2 in 2 relatives with different clinical phenotypes: Omenn syndrome and hyper-IgM syndrome. J Allergy Clin Immunol. 2012;130(6):1414-6.
2. Keller MD, Ganesh J, Heltzer M, Paessler M, Bergqvist AG, Baluarte HJ, et al. Severe combined immunodeficiency resulting from mutations in MTHFD1. Pediatrics. 2013;131(2):629-34.
3. Maggina P, Gennery AR. Classification of primary immunodeficiencies: need for a revised approach? J Allergy Clin Immunol. 2012;131(2):292-4.
4. Kawai T, Akira S. Toll-like receptor and RIG-I-like receptor signaling. Ann N YAcad Sci. 2008;1143:1-20.
5. O'Neill LA, Bowie AG. The family of five: TIR-domain-containing adaptors in Toll-like receptor signalling. Nat Rev Immunol. 2007;7(5):353-64. (Pubitemid 46674493)
6. Picard C, Casanova JL, Puel A. Infectious diseases in patients with IRAK-4, MyD88, NEMO, or IkappaBalpha deficiency. Clin Microbiol Rev. 2011;24(3):490-7.
7. Sancho-Shimizu V, Perez de Diego R, Lorenzo L, Halwani R, Alangari A, Israelsson E, et al. Herpes simplex encephalitis in children with autosomal recessive and dominant TRIF deficiency. J Clin Invest. 2011;121(12):4889-902.
8. Herman M, Ciancanelli M, Ou YH, Lorenzo L, Klaudel-Dreszler M, Pauwels E, et al. Heterozygous TBK1 mutations impair TLR3 immunity and underlie herpes simplex encephalitis of childhood. J Exp Med. 2012;209(9):1567-82.
9. Puel A, Picard C, Ku CL, Smahi A, Casanova JL. Inherited disorders of NF-kappaB-mediated immunity in man. Curr Opin Immunol. 2004;16(1):34-41. (Pubitemid 38198115)
10. Zhang SY, Jouanguy E, Ugolini S, Smahi A, Elain G, Romero P, et al. TLR3 deficiency in patients with herpes simplex encephalitis. Science. 2007;317(5844):1522-7. (Pubitemid 47417427)
11. Casrouge A, Zhang SY, Eidenschenk C, Jouanguy E, Puel A, Yang K, et al. Herpes simplex virus encephalitis in human UNC-93B deficiency. Science. 2006;314(5797):308-12. (Pubitemid 44571977)
12. Perez de Diego R, Sancho-Shimizu V, Lorenzo L, Puel A, Plancoulaine S, Picard C, et al. Human TRAF3 adaptor molecule deficiency leads to impaired Toll-like receptor 3 response and susceptibility to herpes simplex encephalitis. Immunity. 2010;33(3):400-11.
13. Sancho-Shimizu V, Perez de Diego R, Jouanguy E, Zhang SY, Casanova JL. Inborn errors of anti-viral interferon immunity in humans. Curr Opin Virol. 2011;1(6):487-96.
14. Picard C, Puel A, Bonnet M, Ku CL, Bustamante J, Yang K, et al. Pyogenic bacterial infections in humans with IRAK-4 deficiency. Science. 2003;299(5615):2076-9. (Pubitemid 36383736)
15. von Bernuth H, Picard C, Puel A, Casanova JL. Experimental and natural infections in MyD88- and IRAK-4-deficient mice and humans. Eur J Immunol. 2012;42(12):3126-35.
16. von Bernuth H, Picard C, Jin Z, Pankla R, Xiao H, Ku CL, et al. Pyogenic bacterial infections in humans with MyD88 deficiency. Science. 2008;321(5889):691-6.
17. Conway DH, Dara J, Bagashev A, Sullivan KE. Myeloid differentiation primary response gene 88 (MyD88) deficiency in a large kindred. J Allergy Clin Immunol. 2010;126(1):172-5.
18. Picard C, von Bernuth H, Ghandil P, Chrabieh M, Levy O, Arkwright PD, et al. Clinical features and outcome of patients with IRAK-4 and MyD88 deficiency. Medicine (Baltimore). 2010;89(6):403-25.
19. Zonana J, Elder ME, Schneider LC, Orlow SJ, Moss C, Golabi M, et al. A novel X-linked disorder of immune deficiency and hypohidrotic ectodermal dysplasia is allelic to incontinentia pigmenti and due to mutations in IKK-gamma (NEMO). Am J Hum Genet. 2000;67(6):1555-62.
20. Doffinger R, Smahi A, Bessia C, Geissmann F, Feinberg J, Durandy A, et al. X-linked anhidrotic ectodermal dysplasia with immunodeficiency is caused by impaired NF-kappaB signaling. Nat Genet. 2001;27(3):277-85. (Pubitemid 32201848)
21. Hanson EP, Monaco-Shawver L, Solt LA, Madge LA, Banerjee PP, May MJ, et al. Hypomorphic nuclear factor-kappaB essential modulator mutation database and reconstitution system identifies phenotypic and immunologic diversity. J Allergy Clin Immunol. 2008;122(6):1169 e16-77 e16.
22. Hubeau M, Ngadjeua F, Puel A, Israel L, Feinberg J, Chrabieh M, et al. New mechanism of X-linked anhidrotic ectodermal dysplasia with immunodeficiency: impairment of ubiquitin binding despite normal folding of NEMO protein. Blood. 2011;118(4):926-35.
23. Kawai T, Nishikomori R, Izawa K, Murata Y, Tanaka N, Sakai H, et al. Frequent somatic mosaicism of NEMO in T cells of patients with X-linked anhidrotic ectodermal dysplasia with immunodeficiency. Blood. 2012;119(23):5458-66.
24. Kawai T, Nishikomori R, Heike T. Diagnosis and treatment in anhidrotic ectodermal dysplasia with immunodeficiency. Allergol Int. 2012;61(2):207-17.
25. Mooster JL, Cancrini C, Simonetti A, Rossi P, DiMatteo G, Romiti ML, et al. Immune deficiency caused by impaired expression of nuclear factor-kappaB essential modifier (NEMO) because of a mutation in the 5? untranslated region of the NEMO gene. J Allergy Clin Immunol. 2010;126(1):127 e7-32 e7.
26. Courtois G, Smahi A, Reichenbach J, Döffinger R, Cancrini C, Bonnet M, et al. A hypermorphic IkappaBalpha mutation is associated with autosomal dominant anhidrotic ectodermal dysplasia and T-cell immunodeficiency. J Clin Invest. 2003;112(7):1108-15. (Pubitemid 38056325)
27. Janssen R, van Wengen A, Hoeve MA, ten Dam M, van der Burg M, van Dongen J, et al. The same IkappaBalpha mutation in two related individuals leads to completely different clinical syndromes. J Exp Med. 2004;200(5):559-68. (Pubitemid 39258305)
28. McDonald DR, Mooster JL, Reddy M, Bawle E, Secord E, Geha RS. Heterozygous N-terminal deletion of IkappaBalpha results in functional nuclear factor kappaB haploinsufficiency, ectodermal dysplasia, and immune deficiency. J Allergy Clin Immunol. 2007;120(4):900-7. (Pubitemid 47531858)
29. Lopez-Granados E, Keenan JE, Kinney MC, Leo H, Jain N, Ma CA, et al. A novel mutation in NFKBIA/IKBA results in a degradation-resistant N-truncated protein and is associated with ectodermal dysplasia with immunodeficiency. Hum Mutat. 2008;29(6):861-8. (Pubitemid 351794137)
30. Ohnishi H, Miyata R, Suzuki T, Nose T, Kubota K, Kato Z, et al. A rapid screening method to detect autosomal-dominant ectodermal dysplasia with immune deficiency syndrome. J Allergy Clin Immunol. 2012;129(2):578-80.
31. Schimke LF, Rieber N, Rylaarsdam S, Cabral-Marques O, Hubbard N, Puel A, et al. A novel gain-of-function IKBA mutation underlies ectodermal dysplasia with immunodeficiency and polyendocrinopathy. J Clin Immunol. 2013;33(6):1088-99.
32. Dupuis-Girod S, Cancrini C, Le Deist F, Palma P, Bodemer C, Puel A, et al. Successful allogeneic hemopoietic stem cell transplantation in a child who had anhidrotic ectodermal dysplasia with immunodeficiency. Pediatrics. 2006;118(1):e205-11. (Pubitemid 46074629)
33. Fish JD, Duerst RE, Gelfand EW, Orange JS, Bunin N. Challenges in the use of allogeneic hematopoietic SCT for ectodermal dysplasia with immune deficiency. Bone Marrow Transplant. 2009;43(3):217-21.
34. Pannicke U, Baumann B, Fuchs S, Henneke P, Rensing-Ehl A, Rizzi M, et al. Deficiency of innate and acquired immunity caused by an IKBKB mutation. N Engl J Med. 2013;369(26):2504-14.
35. Winkelstein JA, Marino MC, Johnston Jr RB, Boyle J, Curnutte J, Gallin JI, et al. Chronic granulomatous disease. Report on a national registry of 368 patients. Medicine (Baltimore). 2000;79(3):155-69. (Pubitemid 30327530)
36. Johnston Jr RB. Clinical aspects of chronic granulomatous disease. Curr Opin Hematol. 2001;8(1):17-22. (Pubitemid 32047657)
37. Holland SM. Chronic granulomatous disease. Clin Rev Allergy Immunol. 2010;38(1):3-10.
38. de Oliveira-Junior EB, Bustamante J, Newburger PE, Condino-Neto A. The human NADPH oxidase: primary and secondary defects impairing the respiratory burst function and the microbicidal ability of phagocytes. Scand J Immunol. 2011;73(5):420-7.
39. Marciano BE, Rosenzweig SD, Kleiner DE, Anderson VL, Darnell DN, Anaya-O'Brien S, et al. Gastrointestinal involvement in chronic granulomatous disease. Pediatrics. 2004;114(2):462-8. (Pubitemid 39006676)
40. Dinauer MC, Orkin SH, Brown R, Jesaitis AJ, Parkos CA. The glycoprotein encoded by the X-linked chronic granulomatous disease locus is a component of the neutrophil cytochrome b complex. Nature. 1987;327(6124):717-20. (Pubitemid 17085906)
41. Clark RA, Malech HL, Gallin JI, Nunoi H, Volpp BD, Pearson DW, et al. Genetic variants of chronic granulomatous disease: prevalence of deficiencies of two cytosolic components of the NADPH oxidase system. N Engl J Med. 1989;321(10):647-52. (Pubitemid 19221309)
42. Dinauer MC, Pierce EA, Bruns GA, Curnutte JT, Orkin SH. Human neutrophil cytochrome b light chain (p22-phox). Gene structure, chromosomal location, and mutations in cytochrome-negative autosomal recessive chronic granulomatous disease. J Clin Invest. 1990;86(5):1729-37. (Pubitemid 20372627)
43. Parkos CA, Dinauer MC, Walker LE, Allen RA, Jesaitis AJ, Orkin SH. Primary structure and unique expression of the 22-kilodalton light chain of human neutrophil cytochrome b. Proc Natl Acad Sci U S A. 1988;85(10):3319-23.
44. Matute JD, Arias AA, Wright NA, Wrobel I, Waterhouse CC, Li XJ, et al. A new genetic subgroup of chronic granulomatous disease with autosomal recessive mutations in p40 phox and selective defects in neutrophil NADPH oxidase activity. Blood. 2009;114(15):3309-15.
45. Accetta D, Syverson G, Bonacci B, Reddy S, Bengtson C, Surfus J, et al. Human phagocyte defect caused by a Rac2 mutation detected by means of neonatal screening for T-cell lymphopenia. J Allergy Clin Immunol. 2011;127(2):535-8 e1-2.
46. Ambruso DR, Knall C, Abell AN, Panepinto J, Kurkchubasche A, Thurman G, et al. Human neutrophil immunodeficiency syndrome is associated with an inhibitory Rac2 mutation. Proc Natl Acad Sci U S A. 2000;97(9):4654-9. (Pubitemid 30238613)
47. Rae J, Newburger PE, Dinauer MC, Noack D, Hopkins PJ, Kuruto R, et al. X-Linked chronic granulomatous disease: mutations in the CYBB gene encoding the gp91-phox component of respiratory-burst oxidase. Am J Hum Genet. 1998;62(6):1320-31. (Pubitemid 28307101)
48. Roos D. X-CGDbase: a database of X-CGD-causing mutations. Immunol Today. 1996;17(11):517-21.
49. Roos D, de Boer M, Kuribayashi F, Meischl C, Weening RS, Segal AW, et al. Mutations in the X-linked and autosomal recessive forms of chronic granulomatous disease. Blood. 1996;87(5):1663-81. (Pubitemid 26068882)
50. Roos D, Kuhns DB, Maddalena A, Roesler J, Lopez JA, Ariga T, et al. Hematologically important mutations: X-linked chronic granulomatous disease (third update). Blood Cells Mol Dis. 2010;45(3):246-65.
51. Agudelo-Florez P, Prando-Andrade CC, Lopez JA, Costa-Carvalho BT, Quezada A, Espinosa FJ, et al. Chronic granulomatous disease in Latin American patients: clinical spectrum and molecular genetics. Pediatr Blood Cancer. 2006;46(2):243-52. (Pubitemid 43076077)
52. Kuhns DB, Alvord WG, Heller T, Feld JJ, Pike KM, Marciano BE, et al. Residual NADPH oxidase and survival in chronic granulomatous disease. N Engl J Med. 2010;363(27):2600-10.
53. Ezekowitz RA, Dinauer MC, Jaffe HS, Orkin SH, Newburger PE. Partial correction of the phagocyte defect in patients with X-linked chronic granulomatous disease by subcutaneous interferon gamma. N Engl J Med. 1988;319(3):146-51.
54. Condino-Neto A, Newburger PE. Interferon-gamma improves splicing efficiency of CYBB gene transcripts in an interferon-responsive variant of chronic granulomatous disease due to a splice site consensus region mutation. Blood. 2000;95(11):3548-54. (Pubitemid 30428490)
55. Marciano BE, Wesley R, De Carlo ES, Anderson VL, Barnhart LA, Darnell D, et al. Long-term interferon-gamma therapy for patients with chronic granulomatous disease. Clin Infect Dis. 2004;39(5):692-9. (Pubitemid 39180442)
56. Ott MG, Seger R, Stein S, Siler U, Hoelzer D, Grez M. Advances in the treatment of chronic granulomatous disease by gene therapy. Curr Gene Ther. 2007;7(3):155-61. (Pubitemid 46902198)
57. Kilic SS, Hacimustafaoglu M, Boisson-Dupuis S, Kreins AY, Grant AV, Abel L, et al. A patient with tyrosine kinase 2 deficiency without hyper-IgE syndrome. J Pediatr. 2012;160(6):1055-7.
58. Mukherjee S, Thrasher AJ. Gene therapy for PIDs: progress, pitfalls and prospects. Gene. 2013;525(2):174-81.
59. Rezaei N, Moin M, Pourpak Z, Ramyar A, Izadyar M, Chavoshzadeh Z, et al. The clinical, immunohematological, and molecular study of Iranian patients with severe congenital neutropenia. J Clin Immunol. 2007;27(5):525-33. (Pubitemid 47319259)
60. Wintergerst U, Rosenzweig SD, Abinun M, Malech HL, Holland SM, Rezaei N. Phagocytes defects. In: Rezaei N, Aghamohammadi A, Notarangelo LD, editors. Primary immunodeficiency diseases: definition, diagnosis and management. Heidelberg: Springer; 2008. p. 131-66.
61. Skokowa J, Germeshausen M, Zeidler C, Welte K. Severe congenital neutropenia: inheritance and pathophysiology. Curr Opin Hematol. 2007;14(1):22-8. (Pubitemid 44885608)
62. Klein C. Genetic defects in severe congenital neutropenia: emerging insights into life and death of human neutrophil granulocytes. Annu Rev Immunol. 2011;29:399-413.
63. Dale DC, Person RE, Bolyard AA, Aprikyan AG, Bos C, Bonilla MA, et al. Mutations in the gene encoding neutrophil elastase in congenital and cyclic neutropenia. Blood. 2000;96(7):2317-22.
64. Salipante SJ, Benson KF, Luty J, Hadavi V, Kariminejad R, Kariminejad MH, et al. Double de novo mutations of ELA2 in cyclic and severe congenital neutropenia. Hum Mutat. 2007;28(9):874-81. (Pubitemid 47579937)
65. Klein C, Grudzien M, Appaswamy G, Germeshausen M, Sandrock I, Schaffer AA, et al. HAX1 deficiency causes autosomal recessive severe congenital neutropenia (Kostmann disease). Nat Genet. 2007;39(1):86-92. (Pubitemid 46026506)
66. Boztug K, Appaswamy G, Ashikov A, Schaffer AA, Salzer U, Diestelhorst J, et al. A syndrome with congenital neutropenia and mutations in G6PC3. N Engl J Med. 2009;360(1):32-43.
67. Boztug K, Rosenberg PS, Dorda M, Banka S, Moulton T, Curtin J, et al. Extended spectrum of human glucose-6-phosphatase catalytic subunit 3 deficiency: novel genotypes and phenotypic variability in severe congenital neutropenia. J Pediatr. 2012;160(4):679 e2-83 e2.
68. Person RE, Li FQ, Duan Z, Benson KF, Wechsler J, Papadaki HA, et al. Mutations in proto-oncogene GFI1 cause human neutropenia and target ELA2. Nat Genet. 2003;34(3):308-12. (Pubitemid 36792864)
69. Devriendt K, Kim AS, Mathijs G, Frints SG, Schwartz M, Van Den Oord JJ, et al. Constitutively activating mutation in WASP causes X-linked severe congenital neutropenia. Nat Genet. 2001;27(3):313-7. (Pubitemid 32201854)
70. Rezaei N, Farhoudi A, Ramyar A, Pourpak Z, Aghamohammadi A, Mohammadpour B, et al. Congenital neutropenia and primary immunodeficiency disorders: a survey of 26 Iranian patients. J Pediatr Hematol Oncol. 2005;27(7):351-6. (Pubitemid 41077022)
71. Rezaei N, Farhoudi A, Pourpak Z, Aghamohammadi A, Moin M, Movahedi M, et al. Neutropenia in Iranian patients with primary immunodeficiency disorders. Haematologica. 2005;90(4):554-6. (Pubitemid 40592902)
72. Rezaei N, Chavoshzadeh Z, Alaei OR, Sandrock I, Klein C. Association of HAX1 deficiency with neurological disorder. Neuropediatrics. 2008;38:261-3.
73. Rezaei N, Moazzami K, Aghamohammadi A, Klein C. Neutropenia and primary immunodeficiency diseases. Int Rev Immunol. 2009;28(5):335-66.
74. Rezaei N, Aghamohammadi A, Ramyar A, Pan-Hammarstrom Q, Hammarstrom L. Severe congenital neutropenia or hyper-IgM syndrome? A novel mutation of CD40 ligand in a patient with severe neutropenia. Int Arch Allergy Immunol. 2008;147(3):255-9.
75. Rezaei N, Aghamohammadi A, Moin M, Pourpak Z, Movahedi M, Gharagozlou M, et al. Frequency and clinical manifestations of patients with primary immunodeficiency disorders in Iran: update from the Iranian Primary Immunodeficiency Registry. J Clin Immunol. 2006;26(6):519-32. (Pubitemid 44764262)
76. Dong F, Brynes RK, Tidow N, Welte K, Lowenberg B, Touw IP. Mutations in the gene for the granulocyte colony-stimulating-factor receptor in patients with acutemyeloid leukemia preceded by severe congenital neutropenia. N Engl J Med. 1995;333(8):487-93.
77. van de Vijver E, van den Berg TK, Kuijpers TW. Leukocyte adhesion deficiencies. Hematol Oncol Clin N Am. 2013;27(1):101-16. viii.
78. van de Vijver E, Maddalena A, Sanal O, Holland SM, Uzel G, Madkaikar M, et al. Hematologically important mutations: leukocyte adhesion deficiency (first update). Blood Cells Mol Dis. 2012;48(1):53-61.
79. Etzioni A. Genetic etiologies of leukocyte adhesion defects. Curr Opin Immunol. 2009;21(5):481-6.
80. Zimmerman GA. LAD syndromes: FERMT3 kindles the signal. Blood. 2009;113(19):4485-6.
81. Casanova JL, Abel L. Genetic dissection of immunity to mycobacteria: the human model. Annu Rev Immunol. 2002;20:581-620. (Pubitemid 34293435)
82. Prando C, Samarina A, Bustamante J, Boisson-Dupuis S, Cobat A, Picard C, et al. Inherited IL-12p40 deficiency: genetic, immunologic, and clinical features of 49 patients from 30 kindreds. Medicine (Baltimore). 2013;92(2):109-22.
83. de Beaucoudrey L, Samarina A, Bustamante J, Cobat A, Boisson-Dupuis S, Feinberg J, et al. Revisiting human IL-12Rbeta1 deficiency: a survey of 141 patients from 30 countries. Medicine (Baltimore). 2010;89(6):381-402.
84. Boisson-Dupuis S, El Baghdadi J, Parvaneh N, Bousfiha A, Bustamante J, Feinberg J, et al. IL-12Rbeta1 deficiency in two of fifty children with severe tuberculosis from Iran, Morocco, and Turkey. PLoS One. 2011;6(4):e18524.
85. Caragol I, Raspall M, Fieschi C, Feinberg J, Larrosa MN, Hernandez M, et al. Clinical tuberculosis in 2 of 3 siblings with interleukin-12 receptor beta1 deficiency. Clin Infect Dis. 2003;37(2):302-6. (Pubitemid 36930362)
86. Tabarsi P, Marjani M, Mansouri N, Farnia P, Boisson-Dupuis S, Bustamante J, et al. Lethal tuberculosis in a previously healthy adult with IL-12 receptor deficiency. J Clin Immunol. 2011;31(4):537-9.
87. Filipe-Santos O, Bustamante J, Chapgier A, Vogt G, de Beaucoudrey L, Feinberg J, et al. Inborn errors of IL-12/23- and IFN-gamma-mediated immunity: molecular, cellular, and clinical features. Semin Immunol. 2006;18(6):347-61. (Pubitemid 44540199)
88. Kong XF, Vogt G, Itan Y, Macura-Biegun A, Szaflarska A, Kowalczyk D, et al. Haploinsufficiency at the human IFNGR2 locus contributes to mycobacterial disease. Hum Mol Genet. 2013;22(4):769-81.
89. Hambleton S, Salem S, Bustamante J, Bigley V, Boisson-Dupuis S, Azevedo J, et al. IRF8 mutations and human dendritic-cell immunodeficiency. N Engl J Med. 2011;365(2):127-38.
90. Bustamante J, Arias AA, Vogt G, Picard C, Galicia LB, Prando C, et al. Germline CYBB mutations that selectively affect macrophages in kindreds with X-linked predisposition to tuberculous mycobacterial disease. Nat Immunol. 2011;12(3):213-21.
91. Bogunovic D, Byun M, Durfee LA, Abhyankar A, Sanal O, Mansouri D, et al. Mycobacterial disease and impaired IFN-gamma immunity in humans with inherited ISG15 deficiency. Science. 2012;337(6102):1684-8.
92. Boisson-Dupuis S, Kong XF, Okada S, Cypowyj S, Puel A, Abel L, et al. Inborn errors of human STAT1: allelic heterogeneity governs the diversity of immunological and infectious phenotypes. Curr Opin Immunol. 2012;24(4):364-78.
93. Filipe-Santos O, Bustamante J, Haverkamp MH, Vinolo E, Ku CL, Puel A, et al. X-linked susceptibility to mycobacteria is caused by mutations in NEMO impairing CD40-dependent IL-12 production. J Exp Med. 2006;203(7):1745-59. (Pubitemid 44036280)
94. Vogt G, Bustamante J, Chapgier A, Feinberg J, Boisson Dupuis S, Picard C, et al. Complementation of a pathogenic IFNGR2 misfolding mutation with modifiers of N-glycosylation. J Exp Med. 2008;205(8):1729-37.
95. Sologuren I, Boisson-Dupuis S, Pestano J, Vincent QB, Fernandez-Perez L, Chapgier A, et al. Partial recessive IFN-gammaR1 deficiency: genetic, immunological and clinical features of 14 patients from 11 kindreds. Hum Mol Genet. 2011;20(8):1509-23.
96. Bustamante J, Picard C, Boisson-Dupuis S, Abel L, Casanova JL. Genetic lessons learned from X-linked Mendelian susceptibility to mycobacterial diseases. Ann N Y Acad Sci. 2011;1246:92-101.
97. Dorman SE, Picard C, Lammas D, Heyne K, van Dissel JT, Baretto R, et al. Clinical features of dominant and recessive interferon gamma receptor 1 deficiencies. Lancet. 2004;364(9451):2113-21. (Pubitemid 39626807)
98. MacLennan C, Fieschi C, Lammas DA, Picard C, Dorman SE, Sanal O, et al. Interleukin (IL)-12 and IL-23 are key cytokines for immunity against Salmonella in humans. J Infect Dis. 2004;190(10):1755-7. (Pubitemid 39487818)
99. Moraes-Vasconcelos D, Grumach AS, Yamaguti A, Andrade ME, Fieschi C, de Beaucoudrey L, et al. Paracoccidioides brasiliensis disseminated disease in a patient with inherited deficiency in the beta1 subunit of the interleukin (IL)-12/IL-23 receptor. Clin Infect Dis. 2005;41(4):e31-7.
100. Pedraza S, Lezana JL, Samarina A, Aldana R, Herrera MT, Boisson-Dupuis S, et al. Clinical disease caused by Klebsiella in 2 unrelated patients with interleukin 12 receptor beta1 deficiency. Pediatrics. 2010;126(4):e971-6.
101. Sanal O, Turkkani G, Gumruk F, Yel L, Secmeer G, Tezcan I, et al. A case of interleukin-12 receptor beta-1 deficiency with recurrent leishmaniasis. Pediatr Infect Dis J. 2007;26(4):366-8. (Pubitemid 46596670)
102. Alangari AA, Al-Zamil F, Al-Mazrou A, Al-Muhsen S, Boisson-Dupuis S, Awadallah S, et al. Treatment of disseminated mycobacterial infection with high-dose IFN-gamma in a patient with IL-12Rbeta1 deficiency. Clin Dev Immunol. 2011;2011:691956.
103. Moilanen P, Korppi M, Hovi L, Chapgier A, Feinberg J, Kong XF, et al. Successful hematopoietic stem cell transplantation from an unrelated donor in a child with interferon gamma receptor deficiency. Pediatr Infect Dis J. 2009;28(7):658-60.
104. Fieschi C, Dupuis S, Picard C, Smith CI, Holland SM, Casanova JL. High levels of interferon gamma in the plasma of children with complete interferon gamma receptor deficiency. Pediatrics. 2001;107(4):E48.
105. Koss M, Bolze A, Brendolan A, Saggese M, Capellini TD, Bojilova E, et al. Congenital asplenia inmice and humans with mutations in a Pbx/Nkx2-5/p15 module. Dev Cell. 2012;22(5):913-26.
106. Al Khatib S, Keles S, Garcia-Lloret M, Karakoc-Aydiner E, Reisli I, Artac H, et al. Defects along the T(H)17 differentiation pathway underlie genetically distinct forms of the hyper IgE syndrome. J Allergy Clin Immunol. 2009;124(2):342-8. 8 e1-5.
107. Kanthan R, Moyana T, Nyssen J. Asplenia as a cause of sudden unexpected death in childhood. Am J Forensic Med Pathol. 1999;20(1):57-9. (Pubitemid 29159888)
108. Schutze GE, Mason Jr EO, Barson WJ, Kim KS, Wald ER, Givner LB, et al. Invasive pneumococcal infections in children with asplenia. Pediatr Infect Dis J. 2002;21(4):278-82. (Pubitemid 34326863)
109. Lion C, Escande F, Burdin JC. Capnocytophaga canimorsus infections in human: review of the literature and cases report. Eur J Epidemiol. 1996;12(5):521-33. (Pubitemid 26330141)
110. Waldman JD, Rosenthal A, Smith AL, Shurin S, Nadas AS. Sepsis and congenital asplenia. J Pediatr. 1977;90(4):555-9. (Pubitemid 8083170)
111. Rogers ZR, Wang WC, Luo Z, Iyer RV, Shalaby-Rana E, Dertinger SD, et al. Biomarkers of splenic function in infants with sickle cell anemia: baseline data from the BABY HUG Trial. Blood. 2011;117(9):2614-7.
112. Nagel BH, Williams H, Stewart L, Paul J, Stumper O. Splenic state in surviving patients with visceral heterotaxy. Cardiol Young. 2005;15(5):469-73. (Pubitemid 41630833)
113. Price VE, Blanchette VS, Ford-Jones EL. The prevention and management of infections in children with asplenia or hyposplenia. Infect Dis Clin N Am. 2007;21(3):697-710. viii-ix. (Pubitemid 47371197)
114. Dempsey PW, Allison MED, Akkaraju S, Goodnow CC, Fearon DT. C3d of complement as a molecular adjuvant: bridging innate and acquired immunity. Science. 1996;271:348-50.
115. Ross SC, Densen P. Complement deficiency states and infection: epidemiology, pathogenesis and consequences of Neisserial and other infections in an immune deficiency. Medicine. 1984;63(5):243-73. (Pubitemid 14020907)
116. Figueroa JE, Densen P. Infectious diseases associated with complement deficiencies. Clin Microbiol Rev. 1991;4(3):359-95. (Pubitemid 21920404)
117. Figueroa J, Andreoni J, Densen P. Complement deficiency states and meningococcal disease. Immunol Res. 1993;12(3):295-311. (Pubitemid 23357454)
118. Al-Herz W, Bousfiha A, Casanova JL, Chapel H, Conley ME, Cunningham-Rundles C, et al. Primary immunodeficiency diseases: an update on the classification from the international union of immunological societies expert committee for primary immunodeficiency. Front Immunol. 2011;2:54.
119. Kwan A, Church JA, Cowan MJ, Agarwal R, Kapoor N, Kohn DB, et al. Newborn screening for severe combined immunodeficiency and T-cell lymphopenia in California: results of the first 2 years. J Allergy Clin Immunol. 2013;132(1):140-50.
120. Buckley RH. The long quest for neonatal screening for severe combined immunodeficiency. J Allergy Clin Immunol. 2012;129(3):597-604. quiz 5-6.
121. Al-Herz W, Naguib KK, Notarangelo LD, Geha RS, Alwadaani A. Parental consanguinity and the risk of primary immunodeficiency disorders: report from the Kuwait National Primary Immunodeficiency Disorders Registry. Int Arch Allergy Immunol. 2011;154(1):76-80.
122. Rosen FS. Severe combined immunodeficiency: a pediatric emergency. J Pediatr. 1997;130(3):345-6. (Pubitemid 27492674)
123. Griffith LM, Cowan MJ, Notarangelo LD, Puck JM, Buckley RH, Candotti F, et al. Improving cellular therapy for primary immune deficiency diseases: recognition, diagnosis, and management. J Allergy Clin Immunol. 2009;124(6):1152 e12-60 e12.
124. Angulo I, Vadas O, Garcon F, Banham-Hall E, Plagnol V, Leahy TR, et al. Phosphoinositide 3-kinase delta gene mutation predisposes to respiratory infection and airway damage. Science. 2013;342(6160):866-71.
125. Gaspar HB, Aiuti A, Porta F, Candotti F, Hershfield MS, Notarangelo LD. How I treat ADA deficiency. Blood. 2009;114(17):3524-32.
126. Gennery AR, Slatter MA, Grandin L, Taupin P, Cant AJ, Veys P, et al. Transplantation of hematopoietic stem cells and long-term survival for primary immunodeficiencies in Europe: entering a new century, do we do better? J Allergy Clin Immunol. 2010;126(3):602 e1-11-10 e1-11.
127. Felgentreff K, Perez-Becker R, Speckmann C, Schwarz K, Kalwak K, Markelj G, et al. Clinical and immunological manifestations of patients with atypical severe combined immunodeficiency. Clin Immunol. 2011;141(1):73-82.
128. Roifman CM, Somech R, Kavadas F, Pires L, Nahum A, Dalal I, et al. Defining combined immunodeficiency. J Allergy Clin Immunol. 2012;130(1):177-83.
129. van der Burg M, Gennery AR. Educational paper. The expanding clinical and immunological spectrum of severe combined immunodeficiency. Eur J Pediatr. 2011;170(5):561-71.
130. Liston A, Enders A, Siggs OM. Unravelling the association of partial T-cell immunodeficiency and immune dysregulation. Nat Rev Immunol. 2008;8(7):545-58. (Pubitemid 351913676)
131. Notarangelo LD. Functional T cell immunodeficiencies (with T cells present). Annu Rev Immunol. 2013;31(1):195-225.
132. Gossage DL, Buckley RH. Prevalence of lymphocytopenia in severe combined immunodeficiency. N Engl J Med. 1990;323(20):1422-3.
133. Chan K, Puck JM. Development of population-based newborn screening for severe combined immunodeficiency. J Allergy Clin Immunol. 2005;115(2):391-8. (Pubitemid 40215109)
134. Morinishi Y, Imai K, Nakagawa N, Sato H, Horiuchi K, Ohtsuka Y, et al. Identification of severe combined immunodeficiency by T-cell receptor excision circles quantification using neonatal guthrie cards. J Pediatr. 2009;155(6):829-33.
135. Buckley RH. Transplantation of hematopoietic stem cells in human severe combined immunodeficiency: longterm outcomes. Immunol Res. 2011;49(1-3):25-43.
136. Routes JM, Grossman WJ, Verbsky J, Laessig RH, Hoffman GL, Brokopp CD, et al. Statewide newborn screening for severe T-cell lymphopenia. JAMA. 2009;302(22):2465-70.
137. Verbsky JW, Baker MW, Grossman WJ, Hintermeyer M, Dasu T, Bonacci B, et al. Newborn screening for severe combined immunodeficiency; the Wisconsin experience (2008-2011). J Clin Immunol. 2012;32(1):82-8.
138. Notarangelo LD, Lanzi G, Peron S, Durandy A. Defects of class-switch recombination. J Allergy Clin Immunol. 2006;117(4):855-64. (Pubitemid 44313814)
139. Roulland S, Suarez F, Hermine O, Nadel B. Pathophysiological aspects of memory B-cell development. Trends Immunol. 2008;29(1):25-33.
140. Jain A, Atkinson TP, Lipsky PE, Slater JE, Nelson DL, Strober W. Defects of T-cell effector function and post-thymic maturation in X-linked hyper-IgM syndrome. J Clin Invest. 1999;103(8):1151-8. (Pubitemid 29207249)
141. Lee WI, Torgerson TR, Schumacher MJ, Yel L, Zhu Q, Ochs HD. Molecular analysis of a large cohort of patients with the hyper immunoglobulin M (IgM) syndrome. Blood. 2005;105(5):1881-90. (Pubitemid 40731768)
142. Winkelstein JA, Marino MC, Ochs H, Fuleihan R, Scholl PR, Geha R, et al. The X-linked hyper-IgM syndrome: clinical and immunologic features of 79 patients. Medicine (Baltimore). 2003;82(6):373-84. (Pubitemid 37445041)
143. Allen RC, Armitage RJ, Conley ME, Rosenblatt H, Jenkins NA, Copeland NG, et al. CD40 ligand gene defects responsible for X-linked hyper-IgM syndrome. Science. 1993;259(5097):990-3. (Pubitemid 23080672)
144. Aruffo A, Farrington M, Hollenbaugh D, Li X, Milatovich A, Nonoyama S, et al. The CD40 ligand, gp39, is defective in activated T cells from patients with X-linked hyper-IgM syndrome. Cell. 1993;72(2):291-300. (Pubitemid 23044943)
145. DiSanto JP, Bonnefoy JY, Gauchat JF, Fischer A, de Saint Basile G. CD40 ligand mutations in x-linked immunodeficiency with hyper-IgM. Nature. 1993;361(6412):541-3. (Pubitemid 23055616)
146. Fuleihan R, Ramesh N, Loh R, Jabara H, Rosen RS, Chatila T, et al. Defective expression of the CD40 ligand in X chromosome-linked immunoglobulin deficiency with normal or elevated IgM. Proc Natl Acad Sci U S A. 1993;90(6):2170-3. (Pubitemid 23078587)
147. Korthauer U, Graf D, Mages HW, Briere F, Padayachee M, Malcolm S, et al. Defective expression of T-cell CD40 ligand causes X-linked immunodeficiency with hyper-IgM. Nature. 1993;361(6412):539-41. (Pubitemid 23055615)
148. Noelle RJ. The role of gp39 (CD40L) in immunity. Clin Immunol Immunopathol. 1995;76(3 Pt 2):S203-7.
149. Facchetti F, Appiani C, Salvi L, Levy J, Notarangelo LD. Immunohistologic analysis of ineffective CD40-CD40 ligand interaction in lymphoid tissues from patients with X-linked immunodeficiency with hyper-IgM. Abortive germinal center cell reaction and severe depletion of follicular dendritic cells. J Immunol. 1995;154(12):6624-33.
150. Levy J, Espanol-Boren T, Thomas C, Fischer A, Tovo P, Bordigoni P, et al. Clinical spectrum of X-linked hyper-IgM syndrome. J Pediatr. 1997;131(1 Pt 1):47-54. (Pubitemid 27498308)
151. Cabral-Marques O, Schimke LF, Pereira PV, Falcai A, de Oliveira JB, Hackett MJ, et al. Expanding the clinical and genetic spectrum of human CD40L deficiency: the occurrence of paracoccidioidomycosis and other unusual infections in Brazilian patients. J Clin Immunol. 2012;32(2):212-20.
152. Notarangelo LD, Lanzi G, Toniati P, Giliani S. Immunodeficiencies due to defects of class-switch recombination. Immunol Res. 2007;38(1-3):68-77. (Pubitemid 47574931)
153. Wolska-Kusnierz B, Bajer A, Caccio S, Heropolitanska-Pliszka E, Bernatowska E, Socha P, et al. Cryptosporidium infection in patients with primary immunodeficiencies. J Pediatr Gastroenterol Nutr. 2007;45(4):458-64. (Pubitemid 350307165)
154. Jesus AA, Duarte AJ, Oliveira JB. Autoimmunity in hyper-IgM syndrome. J Clin Immunol. 2008;28 Suppl 1:S62-6.
155. Hayward AR, Levy J, Facchetti F, Notarangelo L, Ochs HD, Etzioni A, et al. Cholangiopathy and tumors of the pancreas, liver, and biliary tree in boys with X-linked immunodeficiency with hyper-IgM. J Immunol. 1997;158(2):977-83. (Pubitemid 127492679)
156. Banatvala N, Davies J, Kanariou M, Strobel S, Levinsky R, Morgan G. Hypogammaglobulinaemia associated with normal or increased IgM (the hyper IgM syndrome): a case series review. Arch Dis Child. 1994;71(2):150-2. (Pubitemid 24261121)
157. Thomas C, de Saint Basile G, Le Deist F, Theophile D, Benkerrou M, Haddad E, et al. Brief report: correction of X-linked hyper-IgM syndrome by allogeneic bone marrow transplantation. N Engl J Med. 1995;333(7):426-9.
158. Bordigoni P, Auburtin B, Carret AS, Schuhmacher A, Humbert JC, Le Deist F, et al. Bone marrow transplantation as treatment for X-linked immunodeficiency with hyper-IgM. Bone Marrow Transplant. 1998;22(11):1111-4. (Pubitemid 28554222)
159. Hadzic N, Pagliuca A, Rela M, Portmann B, Jones A, Veys P, et al. Correction of the hyper-IgM syndrome after liver and bone marrow transplantation. N Engl J Med. 2000;342(5):320-4. (Pubitemid 30075245)
160. Duplantier JE, Seyama K, Day NK, Hitchcock R, Nelson Jr RP, Ochs HD, et al. Immunologic reconstitution following bone marrow transplantation for X-linked hyper IgM syndrome. Clin Immunol. 2001;98(3):313-8.
161. Khawaja K, Gennery AR, Flood TJ, Abinun M, Cant AJ. Bone marrow transplantation for CD40 ligand deficiency: a single centre experience. Arch Dis Child. 2001;84(6):508-11. (Pubitemid 33027593)
162. Tomizawa D, Imai K, Ito S, Kajiwara M, Minegishi Y, Nagasawa M, et al. Allogeneic hematopoietic stem cell transplantation for seven children with X-linked hyper-IgM syndrome: a single center experience. Am J Hematol. 2004;76(1):33-9. (Pubitemid 38579535)
163. Jacobsohn DA, Emerick KM, Scholl P, Melin-Aldana H, O'Gorman M, Duerst R, et al. Nonmyeloablative hematopoietic stem cell transplant for X-linked hyper-immunoglobulin m syndrome with cholangiopathy. Pediatrics. 2004;113(2):e122-7.
164. Tsuji Y, Imai K, Kajiwara M, Aoki Y, Isoda T, Tomizawa D, et al. Hematopoietic stemcell transplantation for 30 patients with primary immunodeficiency diseases: 20 years experience of a single team. Bone Marrow Transplant. 2006;37(5):469-77.
165. Kikuta A, Ito M, Mochizuki K, Akaihata M, Nemoto K, Sano H, et al. Nonmyeloablative stem cell transplantation for nonmalignant diseases in children with severe organ dysfunction. Bone Marrow Transplant. 2006;38(10):665-9. (Pubitemid 44669681)
166. Sato T, Kobayashi R, Toita N, Kaneda M, Hatano N, Iguchi A, et al. Stem cell transplantation in primary immunodeficiency disease patients. Pediatr Int. 2007;49(6):795-800. (Pubitemid 350197133)
167. Gennery AR, Khawaja K, Veys P, Bredius RG, Notarangelo LD, Mazzolari E, et al. Treatment of CD40 ligand deficiency by hematopoietic stem cell transplantation: a survey of the European experience, 1993-2002. Blood. 2004;103(3):1152-7. (Pubitemid 38129585)
168. Jain A, Kovacs JA, Nelson DL, Migueles SA, Pittaluga S, Fanslow W, et al. Partial immune reconstitution of X-linked hyper IgM syndrome with recombinant CD40 ligand. Blood. 2011;118(14):3811-7.
169. Durandy A, Revy P, Imai K, Fischer A. Hyper-immunoglobulin M syndromes caused by intrinsic B-lymphocyte defects. Immunol Rev. 2005;203:67-79. (Pubitemid 40179694)
170. Callard RE, Smith SH, Herbert J, Morgan G, Padayachee M, Lederman S, et al. CD40 ligand (CD40L) expression and B cell function in agammaglobulinemia with normal or elevated levels of IgM (HIM). Comparison of X-linked, autosomal recessive, and non-X-linked forms of the disease, and obligate carriers. J Immunol. 1994;153(7):3295-306.
171. Conley ME, Larche M, Bonagura VR, Lawton 3rd AR, Buckley RH, Fu SM, et al. Hyper IgM syndrome associated with defective CD40-mediated B cell activation. J Clin Invest. 1994;94(4):1404-9. (Pubitemid 24309857)
172. Revy P, Geissmann F, Debre M, Fischer A, Durandy A. Normal CD40-mediated activation of monocytes and dendritic cells from patients with hyper-IgMsyndrome due to a CD40 pathway defect in B cells. Eur J Immunol. 1998;28(11):3648-54. (Pubitemid 28510775)
173. Quartier P, Bustamante J, Sanal O, Plebani A, Debre M, Deville A, et al. Clinical, immunologic and genetic analysis of 29 patients with autosomal recessive hyper-IgM syndrome due to activation-induced cytidine deaminase deficiency. Clin Immunol. 2004;110(1):22-9. (Pubitemid 38177417)
174. Gormand F, Briere F, Peyrol S, Raccurt M, Durand I, Ait-Yahia S, et al. CD40 expression by human bronchial epithelial cells. Scand J Immunol. 1999;49(4):355-61. (Pubitemid 29185417)
175. Kutukculer N, Moratto D, Aydinok Y, Lougaris V, Aksoylar S, Plebani A, et al. Disseminated cryptosporidium infection in an infant with hyper-IgM syndrome caused by CD40 deficiency. J Pediatr. 2003;142(2):194-6. (Pubitemid 36232912)
176. Ferrari S, Giliani S, Insalaco A, Al-Ghonaium A, Soresina AR, Loubser M, et al. Mutations of CD40 gene cause an autosomal recessive form of immunodeficiency with hyper IgM. Proc Natl Acad Sci U S A. 2001;98(22):12614-9. (Pubitemid 33019994)
177. Karaca NE, Forveille M, Aksu G, Durandy A, Kutukculer N. Hyper-immunoglobulin M syndrome type 3 with normal CD40 cell surface expression. Scand J Immunol. 2012;76(1):21-5.
178. Kutukculer N, Aksoylar S, Kansoy S, Cetingul N, Notarangelo LD. Outcome of hematopoietic stem cell transplantation in hyper-IgM syndrome caused by CD40 deficiency. J Pediatr. 2003;143(1):141-2. (Pubitemid 36928586)
179. Mazzolari E, Lanzi G, Forino C, Lanfranchi A, Aksu G, Ozturk C, et al. First report of successful stem cell transplantation in a child with CD40 deficiency. Bone Marrow Transplant. 2007;40(3):279-81. (Pubitemid 47108473)
180. Ta VT, Nagaoka H, Catalan N, Durandy A, Fischer A, Imai K, et al. AID mutant analyses indicate requirement for class-switch-specific cofactors. Nat Immunol. 2003;4(9):843-8. (Pubitemid 37098654)
181. Imai K, Catalan N, Plebani A, Marodi L, Sanal O, Kumaki S, et al. Hyper-IgM syndrome type 4 with a B lymphocyte-intrinsic selective deficiency in Ig class-switch recombination. J Clin Invest. 2003;112(1):136-42. (Pubitemid 38056385)
182. Imai K, Zhu Y, Revy P, Morio T, Mizutani S, Fischer A, et al. Analysis of class switch recombination and somatic hypermutation in patients affected with autosomal dominant hyper-IgM syndrome type 2. Clin Immunol. 2005;115(3):277-85. (Pubitemid 40712323)
183. Imai K, Slupphaug G, Lee WI, Revy P, Nonoyama S, Catalan N, et al. Human uracil-DNA glycosylase deficiency associated with profoundly impaired immunoglobulin class-switch recombination. Nat Immunol. 2003;4(10):1023-8. (Pubitemid 37265924)
184. Kavli B, Andersen S, Otterlei M, Liabakk NB, Imai K, Fischer A, et al. B cells from hyper-IgM patients carrying UNG mutations lack ability to remove uracil from ssDNA and have elevated genomic uracil. J Exp Med. 2005;201(12):2011-21. (Pubitemid 41002936)
185. Lucas CL, Kuehn HS, Zhao F, Niemela JE, Deenick EK, Palendira U, et al. Dominant-activating germline mutations in the gene encoding the PI(3)K catalytic subunit p110delta result in T cell senescence and human immunodeficiency. Nat Immunol. 2014;15(1):88-97.
186. Bruton OC. Agammaglobulinemia. Pediatrics. 1952;9(6):722-8.
187. Stray-Pedersen A, Abrahamsen TG, Froland SS. Primary immunodeficiency diseases in Norway. J Clin Immunol. 2000;20(6):477-85. (Pubitemid 32099713)
188. Winkelstein JA, Marino MC, Lederman HM, Jones SM, Sullivan K, Burks AW, et al. X-linked agammaglobulinemia: report on a United States registry of 201 patients. Medicine (Baltimore). 2006;85(4):193-202. (Pubitemid 44107177)
189. Tsukada S, Saffran DC, Rawlings DJ, Parolini O, Allen RC, Klisak I, et al. Deficient expression of a B cell cytoplasmic tyrosine kinase in human X-linked agammaglobulinemia. Cell. 1993;72(2):279-90. (Pubitemid 23044942)
190. Vetrie D, Vorechovsky I, Sideras P, Holland J, Davies A, Flinter F, et al. The gene involved in X-linked agammaglobulinaemia is a member of the src family of protein-tyrosine kinases. Nature. 1993;361(6409):226-33. (Pubitemid 23034471)
191. Lederman HM, Winkelstein JA. X-linked agammaglobulinemia: an analysis of 96 patients. Medicine (Baltimore). 1985;64(3):145-56. (Pubitemid 15041538)
192. Brosens LA, Tytgat KM, Morsink FH, Sinke RJ, Ten Berge IJ, Giardiello FM, et al. Multiple colorectal neoplasms in X-linked agammaglobulinemia. Clin Gastroenterol Hepatol. 2008;6(1):115-9. (Pubitemid 350309526)
193. Conley ME, Notarangelo LD, Etzioni A. Diagnostic criteria for primary immunodeficiencies. Representing PAGID (Pan-American Group for Immunodeficiency) and ESID (European Society for Immunodeficiencies). Clin Immunol. 1999;93(3):190-7.
194. Conley ME. Genetics of hypogammaglobulinemia: what do we really know? Curr Opin Immunol. 2009;21(5):466-71.
195. Conley ME, Dobbs AK, Quintana AM, Bosompem A, Wang YD, Coustan-Smith E, et al. Agammaglobulinemia and absent B lineage cells in a patient lacking the p85alpha subunit of PI3K. J Exp Med. 2012;209(3):463-70.
196. McKinnon PJ. ATM and the molecular pathogenesis of ataxia telangiectasia. Annu Rev Pathol. 2012;7:303-21.
197. Anheim M, Tranchant C, Koenig M. The autosomal recessive cerebellar ataxias. N Engl J Med. 2012;366(7):636-46.
198. Dehkordy SF, Aghamohammadi A, Ochs HD, Rezaei N. Primary immunodeficiency diseases associated with neurologic manifestations. J Clin Immunol. 2012;32(1):1-24.
199. Seif AE. Pediatric leukemia predisposition syndromes: clues to understanding leukemogenesis. Cancer Genet. 2011;204(5):227-44.
200. Al-Maawali A, Blaser S, Yoon G. Diagnostic approach to childhood-onset cerebellar atrophy: a 10-year retrospective study of 300 patients. J Child Neurol. 2012;27(9):1121-32.
201. Bonilla FA, Bernstein IL, Khan DA, Ballas ZK, Chinen J, Frank MM, et al. Practice parameter for the diagnosis and management of primary immunodeficiency. Ann Allergy Asthma Immunol Off Publ Am Coll Allergy Asthma Immunol. 2005;94(5 Suppl 1):S1-S63. (Pubitemid 40712788)
202. Albert MH, Notarangelo LD, Ochs HD. Clinical spectrum, pathophysiology and treatment of the Wiskott-Aldrich syndrome. Curr Opin Hematol. 2011;18(1):42-48.
203. Snapper SB, Rosen FS. The Wiskott-Aldrich syndrome protein (WASP): roles in signaling and cytoskeletal organization. Annu Rev Immunol. 1999;17:905-29. (Pubitemid 29241143)
204. Derry JM, Ochs HD, Francke U. Isolation of a novel gene mutated in Wiskott-Aldrich syndrome. Cell. 1994;79(5):following 922.
205. Stewart DM, Treiber-Held S, Kurman CC, Facchetti F, Notarangelo LD, Nelson DL. Studies of the expression of the Wiskott-Aldrich syndrome protein. J Clin Invest. 1996;97(11):2627-34. (Pubitemid 26191121)
206. Thrasher AJ, Burns SO. WASP: a key immunological multitasker. Nat Rev Immunol. 2010;10(3):182-92.
207. Becker-Herman S, Meyer-Bahlburg A, Schwartz MA, Jackson SW, Hudkins KL, Liu C, et al. WASp-deficient B cells play a critical, cell-intrinsic role in triggering autoimmunity. J Exp Med. 2011;208(10):2033-42.
208. Recher M, Burns SO, de la Fuente MA, Volpi S, Dahlberg C, Walter JE, et al. B cell-intrinsic deficiency of the Wiskott-Aldrich syndrome protein (WASp) causes severe abnormalities of the peripheral B-cell compartment in mice. Blood. 2012;119(12):2819-28.
209. Bouma G, Mendoza-Naranjo A, Blundell MP, de Falco E, Parsley KL, Burns SO, et al. Cytoskeletal remodeling mediated by WASp in dendritic cells is necessary for normal immune synapse formation and T-cell priming. Blood. 2011;118(9):2492-501.
210. Worth AJ, Metelo J, Bouma G, Moulding D, Fritzsche M, Vernay B, et al. Disease-associated missense mutations in the EVH1 domain disrupt intrinsic WASp function causing dysregulated actin dynamics and impaired dendritic cell migration. Blood. 2013;121(1):72-84.
211. Sullivan KE, Mullen CA, Blaese RM, Winkelstein JA. A multiinstitutional survey of the Wiskott-Aldrich syndrome. J Pediatr. 1994;125(6 Pt 1):876-85. (Pubitemid 24379120)
212. Dupuis-Girod S, Medioni J, Haddad E, Quartier P, Cavazzana-Calvo M, Le Deist F, et al. Autoimmunity in Wiskott-Aldrich syndrome: risk factors, clinical features, and outcome in a single-center cohort of 55 patients. Pediatrics. 2003;111(5 Pt 1):e622-7.
213. Notarangelo LD, Mazza C, Giliani S, D'Aria C, Gandellini F, Ravelli C, et al. Missense mutations of the WASP gene cause intermittent X-linked thrombocytopenia. Blood. 2002;99(6):2268-9. (Pubitemid 34525521)
214. Ochs HD, Slichter SJ, Harker LA, Von Behrens WE, Clark RA, Wedgwood RJ. The Wiskott-Aldrich syndrome: studies of lymphocytes, granulocytes, and platelets. Blood. 1980;55(2):243-52. (Pubitemid 10161198)
215. Blaese RM, Strober W, Brown RS, Waldmann TA. The Wiskott-Aldrich syndrome. A disorder with a possible defect in antigen processing or recognition. Lancet. 1968;1(7551):1056-61.
216. Cooper MD, Chae HP, Lowman JT, Krivit W, Good RA. Wiskott-Aldrich syndrome. An immunologic deficiency disease involving the afferent limb of immunity. Am J Med. 1968;44(4):499-513.
217. Siminovitch KA, Greer WL, Novogrodsky A, Axelsson B, Somani AK, Peacocke M. A diagnostic assay for the Wiskott-Aldrich syndrome and its variant forms. J Investig Med. 1995;43(2):159-69.
218. Filipovich AH, Stone JV, Tomany SC, Ireland M, Kollman C, Pelz CJ, et al. Impact of donor type on outcome of bone marrow transplantation for Wiskott-Aldrich syndrome: collaborative study of the International Bone Marrow Transplant Registry and the National Marrow Donor Program. Blood. 2001;97(6):1598-603. (Pubitemid 32217223)
219. Moratto D, Giliani S, Bonfim C, Mazzolari E, Fischer A, Ochs HD, et al. Long-term outcome and lineage-specific chimerism in 194 patients with Wiskott-Aldrich syndrome treated by hematopoietic cell transplantation in the period 1980-2009: an international collaborative study. Blood. 2011;118(6):1675-84.
220. Aiuti A, Biasco L, Scaramuzza S, Ferrua F, Cicalese MP, Baricordi C, et al. Lentiviral hematopoietic stem cell gene therapy in patients with Wiskott-Aldrich syndrome. Science. 2013;341(6148):1233151.
221. Albert MH, Bittner TC, Nonoyama S, Notarangelo LD, Burns S, Imai K, et al. X-linked thrombocytopenia (XLT) due to WAS mutations: clinical characteristics, long-term outcome, and treatment options. Blood. 2010;115(16):3231-8.
222. Mahlaoui N, Pellier I, Mignot C, Jais JP, Bilhou-Nabera C, Moshous D, et al. Characteristics and outcome of early-onset, severe forms of Wiskott-Aldrich syndrome. Blood. 2013;121(9):1510-6.
223. Imai K, Morio T, Zhu Y, Jin Y, Itoh S, Kajiwara M, et al. Clinical course of patients with WASP gene mutations. Blood. 2004;103(2):456-64. (Pubitemid 38140073)
224. Jin Y, Mazza C, Christie JR, Giliani S, Fiorini M, Mella P, et al. Mutations of the Wiskott-Aldrich Syndrome Protein (WASP): hotspots, effect on transcription, and translation and phenotype/genotype correlation. Blood. 2004;104(13):4010-9. (Pubitemid 39620151)
225. Grimbacher B, Holland SM, Gallin JI, Greenberg F, Hill SC, Malech HL, et al. Hyper-IgE syndrome with recurrent infections - an autosomal dominant multisystem disorder. N Engl J Med. 1999;340(9):692-702. (Pubitemid 29110753)
226. Minegishi Y, Saito M, Tsuchiya S, Tsuge I, Takada H, Hara T, et al. Dominant-negative mutations in the DNA-binding domain of STAT3 cause hyper-IgE syndrome. Nature. 2007;448(7157):1058-62. (Pubitemid 47345590)
227. Ma CS, Chew GY, Simpson N, Priyadarshi A, Wong M, Grimbacher B, et al. Deficiency of Th17 cells in hyper IgE syndrome due to mutations in STAT3. J Exp Med. 2008;205(7):1551-7. (Pubitemid 351962018)
228. Minegishi Y, Saito M, Morio T, Watanabe K, Agematsu K, Tsuchiya S, et al. Human tyrosine kinase 2 deficiency reveals its requisite roles in multiple cytokine signals involved in innate and acquired immunity. Immunity. 2006;25(5):745-55. (Pubitemid 46131400)
229. Zhang Q, Davis JC, Lamborn IT, Freeman AF, Jing H, Favreau AJ, et al. Combined immunodeficiency associated with DOCK8 mutations. N Engl J Med. 2009;361(21):2046-55.
230. Jabara HH, McDonald DR, Janssen E, Massaad MJ, Ramesh N, Borzutzky A, et al. DOCK8 functions as an adaptor that links TLR-MyD88 signaling to B cell activation. Nat Immunol. 2012;13(6):612-20.
231. Bittner TC, Pannicke U, Renner ED, Notheis G, Hoffmann F, Belohradsky BH, et al. Successful long-term correction of autosomal recessive hyper-IgE syndrome due to DOCK8 deficiency by hematopoietic stem cell transplantation. Klin Padiatr. 2010;222(6):351-5.
232. Gennery AR, Flood TJ, Abinun M, Cant AJ. Bone marrow transplantation does not correct the hyper IgE syndrome. Bone Marrow Transplant. 2000;25(12):1303-5. (Pubitemid 30428147)
233. Gatz SA, Benninghoff U, Schutz C, Schulz A, Honig M, Pannicke U, et al. Curative treatment of autosomal-recessive hyper-IgE syndrome by hematopoietic cell transplantation. Bone Marrow Transplant. 2011;46(4):552-6.
234. Digilio MC, Marino B, Giannotti A, Dallapiccola B. Chromosome 22q11 microdeletion and isolated conotruncal heart defects [letter; comment]. Arch Dis Child. 1997;76(1):79-80. (Pubitemid 27060503)
235. Goldmuntz E, Clark BJ, Mitchell LE, Jawad AF, Cuneo BF, Reed L, et al. Frequency of 22q11 deletions in patients with conotruncal defects. J Am Coll Cardiol. 1998;32(2):492-8. (Pubitemid 28396502)
236. Marino B, Digilio MC, Toscano A, Anaclerio S, Gianotti A, Feltri C, et al. Anatomic patterns of conotruncal defects associated with deletion 22q11. Genet Med. 2001;3:45-8.
237. Bale PM, Sotelo-Avila C. Maldescent of the thymus: 34 necropsy and 10 surgical cases, including 7 thymuses medial to the mandible. Pediatr Pathol. 1993;13(2):181-90. (Pubitemid 23108322)
238. Jawad AF, Luning Prak E, Boyer J, McDonald-McGinn D, Zackai E, McDonald K, et al. A prospective study of influenza vaccination and a comparison of immunologic parameters in children and adults with chromosome 22q11.2 deletion syndrome (DiGeorge syndrome/velocardiofacial syndrome). J Clin Immunol. 2011;31(6):927-35.
239. Jawad AF, McDonald-McGinn DM, Zackai E, Sullivan KE. Immunologic features of chromosome 22q11.2 deletion syndrome (DiGeorge syndrome/velocardiofacial syndrome). J Pediatr. 2001;139:715-23. (Pubitemid 33097439)
240. Chinen J, Rosenblatt HM, Smith EO, Shearer WT, Noroski LM. Long-term assessment of T-cell populations in DiGeorge syndrome. J Allergy Clin Immunol. 2003;111(3):573-9. (Pubitemid 36337879)
241. Finocchi A, Di Cesare S, Romiti ML, Capponi C, Rossi P, Carsetti R, et al. Humoral immune responses and CD27+ B cells in children with DiGeorge syndrome (22q11.2 deletion syndrome). Pediatr Allergy Immunol. 2006;17(5):382-8. (Pubitemid 43989962)
242. Gennery AR, Barge D, O'Sullivan JJ, Flood TJ, Abinun M, Cant AJ. Antibody deficiency and autoimmunity in 22q11.2 deletion syndrome. Arch Dis Child. 2002;86(6):422-5. (Pubitemid 34596653)
243. Patel K, Akhter J, Kobrynski L, Gathman B, Davis O, Sullivan KE. Immunoglobulin deficiencies: the B-lymphocyte side of digeorge syndrome. J Pediatr. 2012;161(5):950 e1-3 e1.
244. McDonald-McGinn DM, Sullivan KE. Chromosome 22q11.2 deletion syndrome (DiGeorge syndrome/velocardiofacial syndrome). Medicine (Baltimore). 2011;90(1):1-18.
245. Markert ML, Sarzotti M, Ozaki DA, Sempowski GD, Rhein ME, Hale LP, et al. Thymus transplantation in complete DiGeorge syndrome: immunologic and safety evaluations in 12 patients. Blood. 2003;102(3):1121-30. (Pubitemid 36917815)
246. Staple L, Andrews T, McDonald-McGinn D, Zackai E, Sullivan KE. Allergies in patients with chromosome 22q11.2 deletion syndrome (DiGeorge syndrome/velocardiofacial syndrome) and patients with chronic granulomatous disease. Pediatr Allergy Immunol. 2005;16(3):226-30. (Pubitemid 40638049)
247. Gambineri E, Torgerson TR. Genetic disorders with immune dysregulation. Cell Mol Life Sci. 2012;69(1):49-58.
248. Uzel G, Sampaio EP, Lawrence MG, Hsu AP, Hackett M, Dorsey MJ, et al. Dominant gain-of-function STAT1 mutations in FOXP3 wild-type immune dysregulation-polyendocrinopathy-enteropathy-X-linked-like syndrome. J Allergy Clin Immunol. 2013;131(6):1611-23.
249. Bennett CL, Brunkow ME, Ramsdell F, O'Briant KC, Zhu Q, Fuleihan RL, et al. A rare polyadenylation signal mutation of the FOXP3 gene (AAUAAA->AAUGAA) leads to the IPEX syndrome. Immunogenetics. 2001;53(6):435-9. (Pubitemid 32906982)
250. Torgerson TR, Linane A, Moes N, Anover S, Mateo V, Rieux-Laucat F, et al. Severe food allergy as a variant of IPEX syndrome caused by a deletion in a noncoding region of the FOXP3 gene. Gastroenterology. 2007;132(5):1705-17. (Pubitemid 46695720)
251. d'Hennezel E, Bin Dhuban K, Torgerson T, Piccirillo CA. The immunogenetics of immune dysregulation, polyendocrinopathy, enteropathy, X linked (IPEX) syndrome. J Med Genet. 2012;49(5):291-302.
252. Lucas KG, Ungar D, Comito M, Bayerl M, Groh B. Submyeloablative cord blood transplantation corrects clinical defects seen in IPEX syndrome. Bone Marrow Transplant. 2007;39(1):55-6. (Pubitemid 44921656)
253. Rao A, Kamani N, Filipovich A, Lee SM, Davies SM, Dalal J, et al. Successful bone marrow transplantation for IPEX syndrome after reduced-intensity conditioning. Blood. 2007;109(1):383-5. (Pubitemid 46053081)
254. Seidel MG, Fritsch G, Lion T, Jurgens B, Heitger A, Bacchetta R, et al. Selective engraftment of donor CD4+25high FOXP3-positive T cells in IPEX syndrome after nonmyeloablative hematopoietic stem cell transplantation. Blood. 2009;113(22):5689-91.