Primary immunodeficiency diseases associated with neurologic manifestations

Journal of Clinical Immunology

Volumn 32, Issue 1, 2012, Pages 1-24

  Dehkordy, Soodabeh Fazeli ^a,b   Aghamohammadi, Asghar ^a   Ochs, Hans D ^c,d   Rezaei, Nima ^a,b,e  

^a TEHRAN UNIVERSITY OF MEDICAL SCIENCES   (Iran)

^b TEHRAN UNIVERSITY OF MEDICAL SCIENCES   (Iran)

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

^d SEATTLE CHILDREN S RESEARCH INSTITUTE   (United States)

^e UNIVERSITY OF SHEFFIELD   (United Kingdom)

Author keywords

Ataxia telangiectasia; Dna damage; Neurologic manifestations; Primary immunodeficiency diseases

Indexed keywords

ADENOSINE DEAMINASE; CORTICOSTEROID DERIVATIVE; CYCLOSPORIN A; DEXAMETHASONE; ETOPOSIDE; GRANULOCYTE COLONY STIMULATING FACTOR; IMMUNOGLOBULIN; METHOTREXATE; RECOMBINANT GRANULOCYTE COLONY STIMULATING FACTOR; RECOMBINANT INTERLEUKIN 1 RECEPTOR BLOCKING AGENT; STEROID; THYMOCYTE ANTIBODY;

ADENOSINE DEAMINASE DEFICIENCY; ALLERGY; ATAXIA TELANGIECTASIA; AUTOIMMUNITY; AUTOINFLAMMATORY DISEASE; CERNUNNOS DEFICIENCY; CHEDIAK HIGASHI SYNDROME; CLINICAL FEATURE; DISEASE ASSOCIATION; DISEASE PREDISPOSITION; DISORDERS OF DNA SYNTHESIS AND REPAIR; DNA DAMAGE; DNA LIGASE IV DEFICIENCY; GENETIC DISORDER; HEMATOPOIETIC STEM CELL TRANSPLANTATION; HEMOPHAGOCYTIC LYMPHOHISTIOCYTOSIS; HUMAN; IMMUNE DEFICIENCY; INFECTION; MALIGNANT NEOPLASTIC DISEASE; METABOLIC DISORDER; NEUROLOGIC DISEASE; NEUTROPENIA; NIJMEGEN BREAKAGE SYNDROME; OCULAR ALBINISM; PATHOGENESIS; PHAGOCYTE DYSFUNCTION; PRIORITY JOURNAL; PURINE NUCLEOSIDE PHOSPHORYLASE DEFICIENCY; RECURRENT DISEASE; REVIEW; RIDDLE SYNDROME; SEVERE CONGENITAL NEUTROPENIA; SHWACHMAN SYNDROME; SYNDROME; ANIMAL; B LYMPHOCYTE; DNA REPAIR; GENETICS; IMMUNOLOGY; IMMUNOMODULATION; INFLAMMATION; METABOLISM; PHAGOCYTE; T LYMPHOCYTE;

ANIMALS; AUTOIMMUNITY; B-LYMPHOCYTES; DNA REPAIR; HUMANS; IMMUNOLOGIC DEFICIENCY SYNDROMES; IMMUNOMODULATION; INFLAMMATION; NERVOUS SYSTEM DISEASES; PHAGOCYTES; T-LYMPHOCYTES;

EID: 84864053344     PISSN: 02719142     EISSN: 15732592     Source Type: Journal    
DOI: 10.1007/s10875-011-9593-8     Document Type: Review

References (234)

1. Geha RS, Notarangelo LD, Casanova JL, Chapel H, Conley ME, Fischer A, et al. Primary immunodeficiency diseases: an update from the International Union of Immunological Societies Primary Immunodeficiency Diseases Classification Committee. J Allergy Clin Immunol. 2007;120:776-94.
2. Markert ML. Purine nucleoside phosphorylase deficiency. Immunodefic Rev. 1991;3:45-81.
3. Biton S, Barzilai A, Shiloh Y. The neurological phenotype of ataxia-telangiectasia: solving a persistent puzzle. DNA Repair (Amst). 2008;7:1028-38.
4. Prieur AM. A recently recognised chronic inflammatory disease of early onset characterised by the triad of rash, central nervous system involvement and arthropathy. Clin Exp Rheumatol. 2001;19:103-6.
5. Garcia JM, Espanol T, Gurbindo MD, Casas CC. Update on the treatment of primary immunodeficiencies. Allergol Immunopathol (Madr). 2007;35:184-92. (Pubitemid 47591568)
6. Giblett ER, Anderson JE, Cohen F, Pollara B, Meuwissen HJ. Adenosine-deaminase deficiency in two patients with severely impaired cellular immunity. Lancet. 1972;2:1067-9.
7. Sauer AV, Aiuti A. New insights into the pathogenesis of adenosine deaminase-severe combined immunodeficiency and progress in gene therapy. Curr Opin Allergy Clin Immunol. 2009;9:496-502.
8. Ms H. Immunodeficiency caused by adenosine deaminase deficiency. Immunol Allergy Clin North Am. 2001;20:161-75.
9. Hershfield MS, Arredondo-Vega FX, Santisteban I. Clinical expression, genetics and therapy of adenosine deaminase (ADA) deficiency. J Inherit Metab Dis. 1997;20:179-85. (Pubitemid 27273481)
10. Hirschhorn R, Canotti F. Immunodeficiency due to defects of purine metabolism. Primary immunodeficiency diseases. Oxford: Oxford University Press; 2006. p. 169-96.
11. Nofech-Mozes Y, Blaser SI, Kobayashi J, Grunebaum E, Roifman CM. Neurologic abnormalities in patients with adenosine deaminase deficiency. Pediatr Neurol. 2007;37:218-21. (Pubitemid 47321056)
12. Van De Wiele CJ, Vaughn JG, Blackburn MR, Ledent CA, Jacobson M, Jiang H, et al. Adenosine kinase inhibition promotes survival of fetal adenosine deaminase-deficient thymocytes by blocking dATP accumulation. J Clin Invest. 2002;110:395-402. (Pubitemid 34847972)
13. Cassani B, Mirolo M, Cattaneo F, Benninghoff U, Hershfield M, Carlucci F, et al. Altered intracellular and extracellular signaling leads to impaired T-cell functions in ADA-SCID patients. Blood. 2008;111:4209-19.
14. Honig M, Albert MH, Schulz A, Sparber-Sauer M, Schutz C, Belohradsky B, et al. Patients with adenosine deaminase deficiency surviving after hematopoietic stem cell transplantation are at high risk of CNS complications. Blood. 2007;109:3595-602. (Pubitemid 46572555)
15. Camici M, Micheli V, Ipata PL, Tozzi MG. Pediatric neurological syndromes and inborn errors of purine metabolism. Neurochem Int. 2009;56:367-78.
16. Albuquerque W, Gaspar HB. Bilateral sensorineural deafness in adenosine deaminase-deficient severe combined immunodeficiency. J Pediatr. 2004;144:278-80. (Pubitemid 38869409)
17. Aiuti A, Slavin S, Aker M, Ficara F, Deola S, Mortello A, et al. Correction of ADA-SCPI by stem cell gene therapy combined with nonmyeloablative conditioning. Science. 2002;296:2410-3. (Pubitemid 34734219)
18. Dalal I, Grunebaum E, Cohen A, Roifman CM. Two novel mutations in a purine nucleoside phosphorylase (PNP)-deficient patient. Clin Genet. 2001;59:430-7. (Pubitemid 32605810)
19. Cohen A, Grunebaum E, Arpaia E, Roifman CM. Immunodeficiency caused by purine nucleotide phosphorylase deficiency. Immunol Allergy Clin North Am. 2000;20:143-61.
20. Cohen A, Gudas LJ, Ammann AJ, Staal GE, Martin Jr DW. Deoxyguanosine triphosphate as a possible toxic metabolite in the immunodeficiency associated with purine nucleoside phosphorylase deficiency. J Clin Invest. 1978;61:1405-9.
21. Simmonds HA, Fairbanks LD, Morris GS, Morgan G, Watson AR, Timms P, et al. Central nervous system dysfunction and erythrocyte guanosine triphosphate depletion in purine nucleoside phosphorylase deficiency. Arch Dis Child. 1987;62:385-91.
22. Ozkinay F, Pehlivan S, Onay H, van den Berg P, Vardar F, Koturoglu G, et al. Purine nucleoside phosphorylase deficiency in a patient with spastic paraplegia and recurrent infections. J Child Neurol. 2007;22:741-3. (Pubitemid 47034381)
23. Hallett RJ, Cronin SM, Morgan G, Duley JA, Fairbanks LD, Simmonds HA. Normal uric acid concentrations in a purine nucleoside phosphorylase (PNP) deficient child presenting with severe chicken pox, possible immunodeficiency and developmental delay. Adv Exp Med Biol. 1994;370:387-9.
24. Soutar RL, Day RE. Dysequilibrium/ataxic diplegia with immunodeficiency. Arch Dis Child. 1991;66:982-3.
25. Tabarki B, Yacoub M, Tlili K, Trabelsi A, Dogui M, Essoussi AS. Familial spastic paraplegia as the presenting manifestation in patients with purine nucleoside phosphorylase deficiency. J Child Neurol. 2003;18:140-1. (Pubitemid 36432345)
26. Rijksen G, Kuis W, Wadman SK, Spaapen LJ, Duran M, Voorbrood BS, et al. A new case of purine nucleoside phosphorylase deficiency: enzymologic, clinical, and immunologic characteristics. Pediatr Res. 1987;21:137-41. (Pubitemid 17015214)
27. Tam Jr DA, Leshner RT. Stroke in purine nucleoside phosphorylase deficiency. Pediatr Neurol. 1995;12:146-8.
28. Yoshida Y, Watanabe C, Matsuura M. A clinical study on the first case of purine nucleoside phosphorylase deficiency in Japan. Nippon Shonika Gakkai Zasshi (Tokyo). 1986;90:2497-502.
29. Delicou S, Kitra-Roussou V, Peristeri J, Goussetis E, Vessalas G, Rigatou E, et al. Successful HLA-identical hematopoietic stem cell transplantation in a patient with purine nucleoside phosphorylase deficiency. Pediatr Transplant. 2007;11:799-803. (Pubitemid 47512328)
30. Baguette C, Vermylen C, Brichard B, Louis J, Dahan K, Vincent MF, et al. Persistent developmental delay despite successful bone marrow transplantation for purine nucleoside phosphorylase deficiency. J Pediatr Hematol Oncol. 2002;24:69-71. (Pubitemid 34094335)
31. Chun HH, Gatti RA. Ataxia-telangiectasia, an evolving phenotype. DNA Repair (Amst). 2004;3:1187-96. (Pubitemid 38997962)
32. Frappart PO, McKinnon PJ. Ataxia-telangiectasia and related diseases. Neuromolecular Med. 2006;8:495-511.
33. Nowak-Wegrzyn A, Crawford TO, Winkelstein JA, Carson KA, Lederman HM. Immunodeficiency and infections in ataxiatelangiectasia. J Pediatr. 2004;144:505-11.
34. Taylor AM, Groom A, Byrd PJ. Ataxia-telangiectasia-like disorder (ATLD)-its clinical presentation and molecular basis. DNA Repair (Amst). 2004;3:1219-25. (Pubitemid 38997965)
35. Savitsky K, Bar-Shira A, Gilad S, Rotman G, Ziv Y, Vanagaite L, et al. A single ataxia telangiectasia gene with a product similar to PI-3 kinase. Science. 1995;268:1749-53.
36. Ball LG, Xiao W. Molecular basis of ataxia telangiectasia and related diseases. Acta Pharmacol Sin. 2005;26:897-907. (Pubitemid 41153209)
37. Lee Y, McKinnon PJ. ATM dependent apoptosis in the nervous system. Apoptosis. 2000;5:523-9. (Pubitemid 32182550)
38. Lee Y, Chong MJ, McKinnon PJ. Ataxia telangiectasia mutateddependent apoptosis after genotoxic stress in the developing nervous system is determined by cellular differentiation status. J Neurosci. 2001;21:6687-93. (Pubitemid 32781113)
39. Tavani F, Zimmerman RA, Berry GT, Sullivan K, Gatti R, Bingham P. Ataxia-telangiectasia: the pattern of cerebellar atrophy on MRI. Neuroradiology. 2003;45:315-9. (Pubitemid 36656622)
40. Gatti RA, Becker-Catania S, Chun HH, Sun X, Mitui M, Lai CH, et al. The pathogenesis of ataxia-telangiectasia. Learning from a Rosetta Stone. Clin Rev Allergy Immunol. 2001;20:87-108. (Pubitemid 32223509)
41. Perlman S, Becker-Catania S, Gatti RA. Ataxia-telangiectasia: diagnosis and treatment. Semin Pediatr Neurol. 2003;10:173-82. (Pubitemid 37414093)
42. Digweed M, Sperling K. Nijmegen breakage syndrome: clinical manifestation of defective response to DNA double-strand breaks. DNA Repair (Amst). 2004;3:1207-17. (Pubitemid 38997964)
43. van der Burgt I, Chrzanowska KH, Smeets D, Weemaes C. Nijmegen breakage syndrome. J Med Genet. 1996;33:153-6. (Pubitemid 26056471)
44. Distel L, Neubauer S, Varon R, Holter W, Grabenbauer G. Fatal toxicity following radio- and chemotherapy of medulloblastoma in a child with unrecognized Nijmegen breakage syndrome. Med Pediatr Oncol. 2003;41:44-8. (Pubitemid 41103253)
45. Kitagawa R, Bakkenist CJ, McKinnon PJ, Kastan MB. Phosphorylation of SMC1 is a critical downstream event in the ATM- NBS1-BRCA1 pathway. Genes Dev. 2004;18:1423-38. (Pubitemid 38780629)
46. Shull ER, Lee Y, Nakane H, Stracker TH, Zhao J, Russell HR, et al. Differential DNA damage signaling accounts for distinct neural apoptotic responses in ATLD and NBS. Genes Dev. 2009;23:171-80.
47. Waltes R, Kalb R, Gatei M, Kijas AW, Stumm M, Sobeck A, et al. Human RAD50 deficiency in a Nijmegen breakage syndrome-like disorder. Am J Hum Genet. 2009;84:605-16.
48. Chrzanowska KH. Microcephaly with chromosomal instability and immunodeficiency-Nijmegen syndrome. Pediatr Pol. 1996;71:223-34.
49. Bekiesinska-Figatowska M, Chrzanowska KH, Jurkiewicz E, Wakulinska A, Rysiewskis H, Gladkowska-Dura M, et al. Magnetic resonance imaging of brain abnormalities in patients with the Nijmegen breakage syndrome. Acta Neurobiol Exp (Wars). 2004;64:503-9. (Pubitemid 39576428)
50. Gennery AR, Slatter MA, Bhattacharya A, Jeggo PA, Abinun M, Flood TJ, et al. Bone marrow transplantation for Nijmegan breakage syndrome. J Pediatr Hematol Oncol. 2005;27:239. (Pubitemid 40604852)
51. Chistiakov DA, Voronova NV, Chistiakov AP. Ligase IV syndrome. Eur J Med Genet. 2009;52:373-8.
52. Riballo E, Critchlow SE, Teo SH, Doherty AJ, Priestley A, Broughton B, et al. Identification of a defect in DNA ligase IV in a radiosensitive leukaemia patient. Curr Biol. 1999;9:699-702. (Pubitemid 29332352)
53. O'Driscoll M, Cerosaletti KM, Girard PM, Dai Y, Stumm M, Kysela B, et al. DNA ligase IV mutations identified in patients exhibiting developmental delay and immunodeficiency. Mol Cell. 2001;8:1175-85. (Pubitemid 34084990)
54. Unal S, Cerosaletti K, Uckan-Cetinkaya D, Cetin M, Gumruk F. A novel mutation in a family with DNA ligase IV deficiency syndrome. Pediatr Blood Cancer. 2009;53:482-4.
55. Ben-Omran TI, Cerosaletti K, Concannon P, Weitzman S, Nezarati MM. A patient with mutations in DNA ligase IV: clinical features and overlap with Nijmegen breakage syndrome. Am J Med Genet A. 2005;137A:283-7. (Pubitemid 41262661)
56. Buck D, Moshous D, de Chasseval R, Ma Y, le Deist F, Cavazzana-Calvo M, et al. Severe combined immunodeficiency and microcephaly in siblings with hypomorphic mutations in DNA ligase IV. Eur J Immunol. 2006;36:224-35. (Pubitemid 43116409)
57. Enders A, Fisch P, Schwarz K, Duffner U, Pannicke U, Nikolopoulos E, et al. A severe form of human combined immunodeficiency due to mutations in DNA ligase IV. J Immunol. 2006;176:5060-8.
58. Grunebaum E, Bates A, Roifman CM. Omenn syndrome is associated with mutations in DNA ligase IV. J Allergy Clin Immunol. 2008;122:1219-20.
59. Toita N, Hatano N, Ono S, Yamada M, Kobayashi R, Kobayashi I, et al. Epstein-Barr virus-associated B-cell lymphoma in a patient with DNA ligase IV (LIG4) syndrome. Am J Med Genet A. 2007;143:742-5. (Pubitemid 46606685)
60. Helleday T, Lo J, van Gent DC, Engelward BP. DNA doublestrand break repair: from mechanistic understanding to cancer treatment. DNA Repair (Amst). 2007;6:923-35. (Pubitemid 46880473)
61. Lees-Miller SP, Meek K. Repair of DNA double strand breaks by non-homologous end joining. Biochimie. 2003;85:1161-73. (Pubitemid 38142369)
62. Revy P, Buck D, le Deist F, de Villartay JP. The repair of DNA damages/modifications during the maturation of the immune system: lessons from human primary immunodeficiency disorders and animal models. Adv Immunol. 2005;87:237-95. (Pubitemid 41133495)
63. Gao Y, Sun Y, Frank KM, Dikkes P, Fujiwara Y, Seidl KJ, et al. A critical role for DNA end-joining proteins in both lymphogenesis and neurogenesis. Cell. 1998;95:891-902. (Pubitemid 29019042)
64. Chun JJ, Schatz DG, Oettinger MA, Jaenisch R, Baltimore D. The recombination activating gene-1 (RAG-1) transcript is present in the murine central nervous system. Cell. 1991;64:189-200. (Pubitemid 121001150)
65. Gruhn B, Seidel J, Zintl F, Varon R. Successful bone marrow transplantation in a patient with DNA ligase IV deficiency and bone marrow failure. Orphanet J Rare Dis. 2007;2:5.
66. Buck D, Malivert L, de Chasseval R, Barraud A, Fondaneche MC, Sanal O, et al. Cernunnos, a novel nonhomologous endjoining factor, is mutated in human immunodeficiency with microcephaly. Cell. 2006;124:287-99. (Pubitemid 43121978)
67. Rezaei N, Aghamohammadi A, Notarangelo LD. Primary immunodeficiency diseases: definition, diagnosis and management. Berlin: Springer; 2008.
68. Stewart GS, Stankovic T, Byrd PJ, Wechsler T, Miller ES, Huissoon A, et al. RIDDLE immunodeficiency syndrome is linked to defects in 53BP1-mediated DNA damage signaling. Proc Natl Acad Sci U S A. 2007;104:16910-5. (Pubitemid 350210964)
69. Stewart GS, Panier S, Townsend K, Al-Hakim AK, Kolas NK, Miller ES, et al. The RIDDLE syndrome protein mediates a ubiquitin-dependent signaling cascade at sites of DNA damage. Cell. 2009;136:420-34.
70. Blundred RM, Stewart GS. DNA double-strand break repair, immunodeficiency and the RIDDLE syndrome. Expert Rev Clin Immunol. 2011;7:169-85.
71. Ehrlich M, The ICF. syndrome, a DNA methyltransferase 3B deficiency and immunodeficiency disease. Clin Immunol. 2003;109:17-28. (Pubitemid 37324738)
72. Ehrlich M, Sanchez C, Shao C, Nishiyama R, Kehrl J, Kuick R, et al. ICF, an immunodeficiency syndrome: DNA methyltransferase 3B involvement, chromosome anomalies, and gene dysregulation. Autoimmunity. 2008;41:253-71. (Pubitemid 351593856)
73. Hagleitner MM, Lankester A, Maraschio P, Hulten M, Fryns JP, Schuetz C, et al. Clinical spectrum of immunodeficiency, centromeric instability and facial dysmorphism (ICF syndrome). J Med Genet. 2008;45:93-9. (Pubitemid 351252872)
74. Xu GL, Bestor TH, Bourc'his D, Hsieh CL, Tommerup N, Bugge M, et al. Chromosome instability and immunodeficiency syndrome caused by mutations in a DNA methyltransferase gene. Nature. 1999;402:187-91.
75. Jeltsch A. Molecular enzymology of mammalian DNA methyltransferases. Curr Top Microbiol Immunol. 2006;301:203-25. (Pubitemid 43022673)
76. Jin B, Tao Q, Peng J, Soo HM, Wu W, Ying J, et al. DNA methyltransferase 3B (DNMT3B) mutations in ICF syndrome lead to altered epigenetic modifications and aberrant expression of genes regulating development, neurogenesis and immune function. Hum Mol Genet. 2008;17:690-709. (Pubitemid 351292258)
77. Jaenisch R, Bird A. Epigenetic regulation of gene expression: how the genome integrates intrinsic and environmental signals. Nat Genet. 2003;33(Suppl):245-54. (Pubitemid 36278835)
78. Feng J, Chang H, Li E, Fan G. Dynamic expression of de novo DNA methyltransferases Dnmt3a and Dnmt3b in the central nervous system. J Neurosci Res. 2005;79:734-46. (Pubitemid 40476498)
79. de Greef JC, Wang J, Balog J, den Dunnen JT, Frants RR, Straasheijm KR, et al. Mutations in ZBTB24 are associated with immunodeficiency, centromeric instability, and facial anomalies syndrome type 2. Am J Hum Genet. 2011;88(6):796-804.
80. Ehrlich M, Jackson K, Weemaes C. Immunodeficiency, centromeric region instability, facial anomalies syndrome (ICF). Orphanet J Rare Dis. 2006;1:2.
81. Gennery AR, Slatter MA, Bredius RG, Hagleitner MM, Weemaes C, Cant AJ, et al. Hematopoietic stem cell transplantation corrects the immunologic abnormalities associated with immunodeficiency centromeric instability facial dysmorphism syndrome. Pediatrics. 2007;120:1341-4.
82. Kaplan J, De Domenico I, Ward DM. Chediak-Higashi syndrome. Curr Opin Hematol. 2008;15:22-9. (Pubitemid 350191025)
83. Singh RP, Gupta P, Santendra, Sen B. Chediak-Higashi syndrome-accelerated phase. Indian Pediatr. 1994;31:445-8.
84. Barbosa MD, Barrat FJ, Tchernev VT, Nguyen QA, Mishra VS, Colman SD, et al. Identification of mutations in two major mRNA isoforms of the Chediak-Higashi syndrome gene in human and mouse. Hum Mol Genet. 1997;6:1091-8. (Pubitemid 27308395)
85. Shiflett SL, Kaplan J, Ward DM. Chediak-Higashi syndrome: a rare disorder of lysosomes and lysosome related organelles. Pigment Cell Res. 2002;15:251-7. (Pubitemid 34829529)
86. Huizing M, Helip-Wooley A, Westbroek W, Gunay-Aygun M, Gahl WA. Disorders of lysosome-related organelle biogenesis: clinical and molecular genetics. Annu Rev Genomics Hum Genet. 2008;9:359-86.
87. Clark R, Griffiths GM. Lytic granules, secretory lysosomes and disease. Curr Opin Immunol. 2003;15:516-21. (Pubitemid 37130191)
88. Sung JH, Meyers JP, Stadlan EM, Cowen D, Wolf A. Neuropathological changes in Chediak-Higashi disease. J Neuropathol Exp Neurol. 1969;28:86-118.
89. Misra VP, King RH, Harding AE, Muddle JR, Thomas PK. Peripheral neuropathy in the Chediak-Higashi syndrome. Acta Neuropathol. 1991;81:354-8.
90. Tardieu M, Lacroix C, Neven B, Bordigoni P, de Saint Basile G, Blanche S, et al. Progressive neurologic dysfunctions 20 years after allogeneic bone marrow transplantation for Chediak- Higashi syndrome. Blood. 2005;106:40-2. (Pubitemid 40967172)
91. Jacobi C, Koerner C, Fruehauf S, Rottenburger C, Storch- Hagenlocher B, Grau AJ. Presynaptic dopaminergic pathology in Chediak-Higashi syndrome with parkinsonian syndrome. Neurology. 2005;64:1814-5. (Pubitemid 40695831)
92. Eapen M, DeLaat CA, Baker KS. Hematopoietic cell transplantation for Chediak-Higashi syndrome. Bone Marrow Transplant. 2007;39:411-5. (Pubitemid 46487306)
93. Wei ML. Hermansky-Pudlak syndrome: a disease of protein trafficking and organelle function. Pigment Cell Res. 2006;19:19-42.
94. Jung J, Bohn G, Allroth A, Boztug K, Brandes G, Sandrock I, et al. Identification of a homozygous deletion in the AP3B1 gene causing Hermansky-Pudlak syndrome, type 2. Blood. 2006;108:362-9. (Pubitemid 43990650)
95. Shotelersuk V, Dell'Angelica EC, Hartnell L, Bonifacino JS, Gahl WA. A new variant of Hermansky-Pudlak syndrome due to mutations in a gene responsible for vesicle formation. Am J Med. 2000;108:423-7. (Pubitemid 30162963)
96. Huizing M, Scher CD, Strovel E, Fitzpatrick DL, Hartnell LM, Anikster Y, et al. Nonsense mutations in ADTB3A cause complete deficiency of the beta3A subunit of adaptor complex-3 and severe Hermansky-Pudlak syndrome type 2. Pediatr Res. 2002;51:150-8. (Pubitemid 34101328)
97. Wenham M, Grieve S, Cummins M, Jones ML, Booth S, Kilner R, et al. Two patients with Hermansky Pudlak syndrome type 2 and novel mutations in AP3B1. Haematologica. 2009;95:333-7.
98. Enders A, Zieger B, Schwarz K, Yoshimi A, Speckmann C, Knoepfle EM, et al. Lethal hemophagocytic lymphohistiocytosis in Hermansky-Pudlak syndrome type II. Blood. 2006;108:81-7. (Pubitemid 43990615)
99. Dell'Angelica EC, Shotelersuk V, Aguilar RC, Gahl WA, Bonifacino JS. Altered trafficking of lysosomal proteins in Hermansky-Pudlak syndrome due to mutations in the beta 3A subunit of the AP-3 adaptor. Mol Cell. 1999;3:11-21. (Pubitemid 29292473)
100. Danglot L, Galli T. What is the function of neuronal AP-3? Biol Cell. 2007;99:349-61. (Pubitemid 47046490)
101. Newell-Litwa K, Seong E, Burmeister M, Faundez V. Neuronal and non-neuronal functions of the AP-3 sorting machinery. J Cell Sci. 2007;120:531-41. (Pubitemid 46437888)
102. Fontana S, Parolini S, Vermi W, Booth S, Gallo F, Donini M, et al. Innate immunity defects in Hermansky-Pudlak type 2 syndrome. Blood. 2006;107:4857-64. (Pubitemid 43882638)
103. Badolato R, Parolini S. Novel insights from adaptor protein 3 complex deficiency. J Allergy Clin Immunol. 2007;120:735-41. quiz 42-3. (Pubitemid 47531859)
104. Decaminada N, Cappellini M, Mortilla M, Del Giudice E, Sieni E, Caselli D, et al. Familial hemophagocytic lymphohistiocyto-sis: clinical and neuroradiological findings and review of the literature. Childs Nerv Syst. 2009;26:121-7.
105. Gupta S, Weitzman S. Primary and secondary hemophagocytic lymphohistiocytosis: clinical features, pathogenesis and therapy. Expert Rev Clin Immunol. 2010;6:137-54.
106. Janka GE. Familial and acquired hemophagocytic lymphohistiocytosis. Eur J Pediatr. 2007;166:95-109. (Pubitemid 46025500)
107. Stepp SE, Dufourcq-Lagelouse R, Le Deist F, Bhawan S, Certain S, Mathew PA, et al. Perforin gene defects in familial hemophagocytic lymphohistiocytosis. Science. 1999;286:1957-9. (Pubitemid 129515904)
108. Feldmann J, Callebaut I, Raposo G, Certain S, Bacq D, Dumont C, et al. Munc13-4 is essential for cytolytic granules fusion and is mutated in a form of familial hemophagocytic lymphohistio-cytosis (FHL3). Cell. 2003;115:461-73. (Pubitemid 37456808)
109. zur Stadt U, Schmidt S, Kasper B, Beutel K, Diler AS, Henter JI, et al. Linkage of familial hemophagocytic lymphohistiocytosis (FHL) type-4 to chromosome 6q24 and identification of mutations in syntaxin 11. Hum Mol Genet. 2005;14:827-34. (Pubitemid 40403278)
110. Henter JI. Biology and treatment of familial hemophagocytic lymphohistiocytosis: importance of perforin in lymphocyte-mediated cytotoxicity and triggering of apoptosis. Med Pediatr Oncol. 2002;38:305-9.
111. Bryceson YT, Rudd E, Zheng C, Edner J, Ma D, Wood SM, et al. Defective cytotoxic lymphocyte degranulation in syntaxin-11 deficient familial hemophagocytic lymphohistiocytosis 4 (FHL4) patients. Blood. 2007;110:1906-15. (Pubitemid 47443904)
112. zur Stadt U, Rohr J, Seifert W, Koch F, Grieve S, Pagel J, et al. Familial hemophagocytic lymphohistiocytosis type 5 (FHL-5) is caused by mutations in Munc18-2 and impaired binding to syntaxin 11. Am J Hum Genet. 2009;85:482-92.
113. Fischer A, Latour S, de Saint Basile G. Genetic defects affecting lymphocyte cytotoxicity. Curr Opin Immunol. 2007;19:348-53. (Pubitemid 46705487)
114. Haddad E, Sulis ML, Jabado N, Blanche S, Fischer A, Tardieu M. Frequency and severity of central nervous system lesions in hemophagocytic lymphohistiocytosis. Blood. 1997;89:794-800. (Pubitemid 27121272)
115. Feldmann J, Menasche G, Callebaut I, Minard-Colin V, Bader-Meunier B, Le Clainche L, et al. Severe and progressive encephalitis as a presenting manifestation of a novel missense perforin mutation and impaired cytolytic activity. Blood. 2005;105:2658-63. (Pubitemid 40446254)
116. Henter JI, Nennesmo I. Neuropathologic findings and neurologic symptoms in twenty-three children with hemophagocytic lym-phohistiocytosis. J Pediatr. 1997;130:358-65. (Pubitemid 27492678)
117. Goo HW, Weon YC. A spectrum of neuroradiological findings in children with haemophagocytic lymphohistiocytosis. Pediatr Radiol. 2007;37:1110-7. (Pubitemid 47561839)
118. Henter JI, Horne A, Arico M, Egeler RM, Filipovich AH, Imashuku S, et al. HLH-2004: diagnostic and therapeutic guidelines for hemophagocytic lymphohistiocytosis. Pediatr Blood Cancer. 2007;48:124-31. (Pubitemid 44958267)
119. Welte K, Zeidler C. Severe congenital neutropenia. Hematol Oncol Clin North Am. 2009;23:307-20.
120. Rezaei N, Moazzami K, Aghamohammadi A, Klein C. Neutropenia and primary immunodeficiency diseases. Int Rev Immunol. 2009;28:335-66.
121. 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;27:525-33. (Pubitemid 47319259)
122. Aytekin C, Germeshausen M, Tuygun N, Tanir G, Dogu F, Ikinciogullari A. Eponym. Kostmann disease. Eur J Pediatr. 2010;169:657-60.
123. Boxer LA, Newburger PE. A molecular classification of congenital neutropenia syndromes. Pediatr Blood Cancer. 2007;49:609-14. (Pubitemid 350194422)
124. Carlsson G, van't Hooft I, Melin M, Entesarian M, Laurencikas E, Nennesmo I, et al. Central nervous system involvement in severe congenital neutropenia: neurological and neuropsychological abnormalities associated with specific HAX1 mutations. J Intern Med. 2008;264:388-400.
125. Germeshausen M, Grudzien M, Zeidler C, Abdollahpour H, Yetgin S, Rezaei N, et al. Novel HAX1 mutations in patients with severe congenital neutropenia reveal isoform-dependent genotype-phenotype associations. Blood. 2008;111:4954-7.
126. 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;39:86-92. (Pubitemid 46026506)
127. Carlsson G, Aprikyan AA, Tehranchi R, Dale DC, Porwit A, Hellstrom-Lindberg E, et al. Kostmann syndrome: severe congenital neutropenia associated with defective expression of Bcl-2, constitutive mitochondrial release of cytochrome c, and excessive apoptosis ofmyeloid progenitor cells. Blood. 2004;103:3355-61. (Pubitemid 38525664)
128. Zeidler C, Germeshausen M, Klein C, Welte K. Clinical implications of ELA2-, HAX1-, and G-CSF-receptor (CSF3R) mutations in severe congenital neutropenia. Br J Haematol. 2009;144:459-67.
129. Skokowa J, Germeshausen M, Zeidler C, Welte K. Severe congenital neutropenia: inheritance and pathophysiology. Curr Opin Hematol. 2007;14:22-8. (Pubitemid 44885608)
130. Faiyaz-Ul-Haque M, Al-Jefri A, Al-Dayel F, Bhuiyan JA, Abalkhail HA, Al-Nounou R, et al. A novel HAX1 gene mutation in severe congenital neutropenia (SCN) associated with neurological manifestations. Eur J Pediatr. 2010;169:661-6.
131. Rezaei N, Chavoshzadeh Z, Alaei OR, Sandrock I, Klein C. Association of HAX1 deficiency with neurological disorder. Neuropediatrics. 2007;38:261-3. (Pubitemid 351462133)
132. Burroughs L, Woolfrey A, Shimamura A. Shwachman-Diamond syndrome: a review of the clinical presentation, molecular pathogenesis, diagnosis, and treatment. Hematol Oncol Clin North Am. 2009;23:233-48.
133. Aggett PJ, Cavanagh NP, Matthew DJ, Pincott JR, Sutcliffe J, Harries JT. Shwachman's syndrome. A review of 21 cases. Arch Dis Child. 1980;55:331-47.
134. Woods WG, Roloff JS, Lukens JN, Krivit W. The occurrence of leukemia in patients with the Shwachman syndrome. J Pediatr. 1981;99:425-8. (Pubitemid 11029943)
135. Boocock GR, Morrison JA, Popovic M, Richards N, Ellis L, Durie PR, et al. Mutations in SBDS are associated with Shwachman-Diamond syndrome. Nat Genet. 2003;33:97-101. (Pubitemid 36068690)
136. Hall GW, Dale P, Dodge JA. Shwachman-Diamond syndrome: UK perspective. Arch Dis Child. 2006;91:521-4. (Pubitemid 43836109)
137. Austin KM, Gupta ML, Coats SA, Tulpule A, Mostoslavsky G, Balazs AB, et al. Mitotic spindle destabilization and genomic instability in Shwachman-Diamond syndrome. J Clin Invest. 2008;118:1511-8. (Pubitemid 351500444)
138. Kerr EN, Ellis L, Dupuis A, Rommens JM, Durie PR. The behavioral phenotype of school-age children with Shwachman Diamond syndrome indicates neurocognitive dysfunction with loss of Shwachman-Bodian-Diamond syndrome gene function. J Pediatr. 2009;156:433-8.
139. Smith OP, Hann IM, Chessells JM, Reeves BR, Milla P. Haematological abnormalities in Shwachman-Diamond syndrome. Br J Haematol. 1996;94:279-84. (Pubitemid 26247985)
140. Kent A, Murphy GH, Milla P. Psychological characteristics of children with Shwachman syndrome. Arch Dis Child. 1990;65:1349-52.
141. Toiviainen-Salo S, Makitie O, Mannerkoski M, Hamalainen J, Valanne L, Autti T. Shwachman-Diamond syndrome is associated with structural brain alterations on MRI. Am J Med Genet A. 2008;146A:1558-64. (Pubitemid 351792402)
142. Gazit Y, Mory A, Etzioni A, Frydman M, Scheuerman O, Gershoni-Baruch R, et al. Leukocyte adhesion deficiency type II: long-term follow-up and review of the literature. J Clin Immunol. 2010;30:308-13.
143. Etzioni A. Defects in the leukocyte adhesion cascade. Clin Rev Allergy Immunol. 2009;38:54-60.
144. Etzioni A, Tonetti M. Leukocyte adhesion deficiency II-from A to almost Z. Immunol Rev. 2000;178:138-47. (Pubitemid 32095227)
145. Luhn K, Wild MK, Eckhardt M, Gerardy-Schahn R, Vestweber D. The gene defective in leukocyte adhesion deficiency II encodes a putative GDP-fucose transporter. Nat Genet. 2001;28:69-72. (Pubitemid 32405820)
146. Grunewald S, Matthijs G, Jaeken J. Congenital disorders of glycosylation: a review. Pediatr Res. 2002;52:618-24. (Pubitemid 35286026)
147. Blodorn B, Mader M, Urade Y, Hayaishi O, Felgenhauer K, Bruck W. Choroid plexus: the major site of mRNA expression for the beta-trace protein (prostaglandin D synthase) in human brain. Neurosci Lett. 1996;209:117-20. (Pubitemid 26157801)
148. Pohl S, Hoffmann A, Rudiger A, Nimtz M, Jaeken J, Conradt HS. Hypoglycosylation of a brain glycoprotein (beta-trace protein) in CDG syndromes due to phosphomannomutase deficiency and N-acetylglucosaminyl-transferase II deficiency. Glycobiology. 1997;7:1077-84. (Pubitemid 28015796)
149. Etzioni A, Harlan JM, Pollack S, Phillips LM, Gershoni-Baruch R, Paulson JC. Leukocyte adhesion deficiency (LAD) II: a new adhesion defect due to absence of sialyl Lewis X, the ligand for selectins. Immunodeficiency. 1993;4:307-8. (Pubitemid 24042570)
150. Marquardt T, Luhn K, Srikrishna G, Freeze HH, Harms E, Vestweber D. Correction of leukocyte adhesion deficiency type II with oral fucose. Blood. 1999;94:3976-85.
151. Nunoi H, Yamazaki T, Kanegasaki S. Neutrophil cytoskeletal disease. Int J Hematol. 2001;74:119-24. (Pubitemid 33760060)
152. Southwick FS, Dabiri GA, Stossel TP. Neutrophil actin dysfunction is a genetic disorder associated with partial impairment of neutrophil actin assembly in three family members. J Clin Invest. 1988;82:1525-31.
153. Boxer LA, Hedley-Whyte ET, Stossel TP. Neutrophil action dysfunction and abnormal neutrophil behavior. N Engl J Med. 1974;291:1093-9.
154. Nunoi H, Yamazaki T, Tsuchiya H, Kato S, Malech HL, Matsuda I, et al. A heterozygous mutation of beta-actin associated with neutrophil dysfunction and recurrent infection. Proc Natl Acad Sci USA. 1999;96:8693-8. (Pubitemid 29354853)
155. Park HT, Wu J, Rao Y. Molecular control of neuronal migration. Bioessays. 2002;24:821-7. (Pubitemid 35022187)
156. Tondeleir D, Vandamme D, Vandekerckhove J, Ampe C, Lambrechts A. Actin isoform expression patterns during mammalian development and in pathology: insights from mouse models. Cell Motil Cytoskeleton. 2009;66:798-815.
157. Haas D, Hoffmann GF. Mevalonate kinase deficiencies: from mevalonic aciduria to hyperimmunoglobulinemia D syndrome. Orphanet J Rare Dis. 2006;1:13.
158. Hoffmann GF, Charpentier C, Mayatepek E, Mancini J, Leichsenring M, Gibson KM, et al. Clinical and biochemical phenotype in 11 patients with mevalonic aciduria. Pediatrics. 1993;91:915-21. (Pubitemid 23120719)
159. van der Meer JW, Vossen JM, Radl J, van Nieuwkoop JA, Meyer CJ, Lobatto S, et al. Hyperimmunoglobulinaemia D and periodic fever: a new syndrome. Lancet. 1984;1:1087-90. (Pubitemid 14100804)
160. Prietsch V, Mayatepek E, Krastel H, Haas D, Zundel D, Waterham HR, et al. Mevalonate kinase deficiency: enlarging the clinical and biochemical spectrum. Pediatrics. 2003;111:258-61. (Pubitemid 36177141)
161. Simon A, Kremer HP, Wevers RA, Scheffer H, De Jong JG, Van Der Meer JW, et al. Mevalonate kinase deficiency: evidence for a phenotypic continuum. Neurology. 2004;62:994-7. (Pubitemid 38435796)
162. Simon A, Drewe E, van der Meer JW, Powell RJ, Kelley RI, Stalenhoef AF, et al. Simvastatin treatment for inflammatory attacks of the hyperimmunoglobulinemia D and periodic fever syndrome. Clin Pharmacol Ther. 2004;75:476-83. (Pubitemid 38534568)
163. Frenkel J, Rijkers GT, Mandey SH, Buurman SW, Houten SM, Wanders RJ, et al. Lack of isoprenoid products raises ex vivo interleukin-1beta secretion in hyperimmunoglobulinemia D and periodic fever syndrome. Arthritis Rheum. 2002;46: 2794-803. (Pubitemid 36118945)
164. Bodar EJ, van der Hilst JC, Drenth JP, van der Meer JW, Simon A. Effect of etanercept and anakinra on inflammatory attacks in the hyper-IgD syndrome: introducing a vaccination provocation model. Neth J Med. 2005;63:260-4. (Pubitemid 41179436)
165. Pfrieger FW. Cholesterol homeostasis and function in neurons of the central nervous system. Cell Mol Life Sci. 2003;60:1158-71. (Pubitemid 36791918)
166. Benarroch EE. Brain cholesterol metabolism and neurologic disease. Neurology. 2008;71:1368-73.
167. Kubota T, Koike R. Cryopyrin-associated periodic syndromes: background and therapeutics. Mod Rheumatol. 2010;20:213-21.
168. Huttenlocher A, Frieden IJ, Emery H. Neonatal onset multisystem inflammatory disease. J Rheumatol. 1995;22:1171-3.
169. Feldmann J, Prieur AM, Quartier P, Berquin P, Certain S, Cortis E, et al. Chronic infantile neurological cutaneous and articular syndrome is caused by mutations in CIAS1, a gene highly expressed in polymorphonuclear cells and chondrocytes. Am J Hum Genet. 2002;71:198-203. (Pubitemid 34734724)
170. Sutterwala FS, Ogura Y, Szczepanik M, Lara-Tejero M, Lichtenberger GS, Grant EP, et al. Critical role for NALP3/ CIAS1/Cryopyrin in innate and adaptive immunity through its regulation of caspase-1. Immunity. 2006;24:317-27.
171. Hoffman HM, Wanderer AA. Inflammasome and IL-1beta-mediated disorders. Curr Allergy Asthma Rep. 2010;10:229-35.
172. Hedrich CM, Fiebig B, Sallmann S, Bruck N, Hahn G, Roesler J, et al. Good response to IL-1beta blockade by anakinra in a 23-year-old CINCA/NOMID patient without mutations in the CIAS1 gene. Cytokine profiles and functional studies. Scand J Rheumatol. 2008;37:385-9.
173. Prieur AM, Griscelli C, Lampert F, Truckenbrodt H, Guggenheim MA, Lovell DJ, et al. A chronic, infantile, neurological, cutaneous J Clin Immunol (2012) 32:1-24
174. Becker ML, Rose CD. Blau syndrome and related genetic disorders causing childhood arthritis. Curr Rheumatol Rep. 2005;7:427-33.
175. Punzi L, Furlan A, Podswiadek M, Gava A, Valente M, De Marchi M, et al. Clinical and genetic aspects of Blau syndrome: a 25-year follow-up of one family and a literature review. Autoimmun Rev. 2009;8:228-32.
176. Wang X, Kuivaniemi H, Bonavita G, Mutkus L, Mau U, Blau E, et al. CARD15 mutations in familial granulomatosis syndromes: a study of the original Blau syndrome kindred and other families with large-vessel arteritis and cranial neuropathy. Arthritis Rheum. 2002;46:3041-5. (Pubitemid 35315899)
177. Miceli-Richard C, Lesage S, Rybojad M, Prieur AM, Manouvrier-Hanu S, Hafner R, et al. CARD15 mutations in Blau syndrome. Nat Genet. 2001;29:19-20. (Pubitemid 32801800)
178. Ogura Y, Inohara N, Benito A, Chen FF, Yamaoka S, Nunez G. Nod2, a Nod1/Apaf-1 family member that is restricted to monocytes and activates NF-kappaB. J Biol Chem. 2001;276:4812-8.
179. Borzutzky A, Fried A, Chou J, Bonilla FA, Kim S, Dedeoglu F. NOD2-associated diseases: bridging innate immunity and autoinflammation. Clin Immunol. 2009;134:251-61.
180. Jabs DA, Houk JL, Bias WB, Arnett FC. Familial granulomatous synovitis, uveitis, and cranial neuropathies. Am J Med. 1985;78:801-4. (Pubitemid 15008235)
181. Scerri L, Cook LJ, Jenkins EA, Thomas AL. Familial juvenile systemic granulomatosis (Blau's syndrome). Clin Exp Dermatol. 1996;21:445-8. (Pubitemid 27198673)
182. Milman N, Andersen CB, Hansen A, van Overeem Hansen T, Nielsen FC, Fledelius H, et al. Favourable effect of TNF-alpha inhibitor (infliximab) on Blau syndrome in monozygotic twins with a de novo CARD15 mutation. APMIS. 2006;114:912-9. (Pubitemid 44967328)
183. Freeman AF, Holland SM. Clinical manifestations, etiology, and pathogenesis of the hyper-IgE syndromes. Pediatr Res. 2009;65:32R-7.
184. 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;340:692-702. (Pubitemid 29110753)
185. Minegishi Y, Saito M, Tsuchiya S. Dominant-negative mutations in the DNA-binding domain of STAT3 cause hyper-IgE syndrome. Nature. 2007;448:1058-62. (Pubitemid 47345590)
186. DE Levy LC. STAT3 signaling and the hyper IgE syndrome. N Engl J Med. 2007;357:1655-8.
187. Engelhardt KR, McGhee S, Winkler S, Sassi A, Woellner C, Lopez-Herrera G, et al. Large deletions and point mutations involving the dedicator of cytokinesis 8 (DOCK8) in the autosomal-recessive form of hyper-IgE syndrome. J Allergy Clin Immunol. 2009;124:1289-302.e4.
188. 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;361:2046-55.
189. Ruusala A, Aspenstrom P. Isolation and characterisation of DOCK8, a member of the DOCK180-related regulators of cell morphology. FEBS Lett. 2004;572:159-66. (Pubitemid 39092529)
190. Renner ED, Puck JM, Holland SM, Schmitt M, Weiss M, Frosch M, et al. Autosomal recessive hyperimmunoglobulin E syndrome: a distinct disease entity. J Pediatr. 2004;144:93-9. (Pubitemid 38091428)
191. Yavuz H, Chee R. A review on the vascular features of the hyperimmunoglobulin E syndrome. Clin Exp Immunol. 2009; 159:238-44.
192. Sheerin KA, Buckley RH. Antibody responses to protein, polysaccharide, and phi X174 antigens in the hyperimmunoglo-bulinemia E (hyper-IgE) syndrome. J Allergy Clin Immunol. 1991;87:803-11.
193. Speckmann C, Enders A, Woellner C, Thiel D, Rensing-Ehl A, Schlesier M, et al. Reduced memory B cells in patients with hyper IgE syndrome. Clin Immunol. 2008;129:448-54.
194. Conley ME, Beckwith JB, Mancer JF, Tenckhoff L. The spectrum of the DiGeorge syndrome. J Pediatr. 1979;94:883-90. (Pubitemid 9150217)
195. Shprintzen RJ. Velo-cardio-facial syndrome: 30 years of study. Dev Disabil Res Rev. 2008;14:3-10. (Pubitemid 351716517)
196. Barrett DJ, Ammann AJ, Wara DW, Cowan MJ, Fisher TJ, Stiehm ER. Clinical and immunologic spectrum of the DiGeorge syndrome. J Clin Lab Immunol. 1981;6:1-6. (Pubitemid 11072040)
197. Driscoll DA, Budarf ML, Emanuel BS. A genetic etiology for DiGeorge syndrome: consistent deletions and microdeletions of 22q11. Am J Hum Genet. 1992;50:924-33.
198. Xu H, Cerrato F, Baldini A. Timed mutation and cell-fate mapping reveal reiterated roles of Tbx1 during embryogenesis, and a crucial function during segmentation of the pharyngeal system via regulation of endoderm expansion. Development. 2005;132:4387-95. (Pubitemid 41576699)
199. Merscher S, Funke B, Epstein JA, Heyer J, Puech A, Lu MM, et al. TBX1 is responsible for cardiovascular defects in velo-cardio-facial/DiGeorge syndrome. Cell. 2001;104:619-29. (Pubitemid 32201955)
200. Gothelf D, Schaer M, Eliez S. Genes, brain development and psychiatric phenotypes in velo-cardio-facial syndrome. Dev Disabil Res Rev. 2008;14:59-68. (Pubitemid 351716524)
201. Antshel KM, Fremont W, Kates WR. The neurocognitive phenotype in velo-cardio-facial syndrome: a developmental perspective. Dev Disabil Res Rev. 2008;14:43-51. (Pubitemid 351716522)
202. Kinoshita H, Kokudo T, Ide T, Kondo Y, Mori T, Homma Y, et al. A patient with DiGeorge syndrome with spina bifida and sacral myelomeningocele, who developed both hypocalcemia-induced seizure and epilepsy. Seizure. 2010;19:303-5.
203. Schaer M, Eliez S. From genes to brain: understanding brain development in neurogenetic disorders using neuroimaging techniques. Child Adolesc Psychiatr Clin N Am. 2007;16:557-79. (Pubitemid 46880396)
204. Kobrynski LJ, Sullivan KE. Velocardiofacial syndrome, DiGeorge syndrome: the chromosome 22q11.2 deletion syndromes. Lancet. 2007;370(9596):1443-52. (Pubitemid 47576169)
205. Boerkoel CF, O'Neill S, Andre JL, Benke PJ, Bogdanovic R, Bulla M, et al. Manifestations and treatment of Schimke immuno-osseous dysplasia: 14 new cases and a review of the literature. Eur J Pediatr. 2000;159:1-7. (Pubitemid 30120118)
206. Saraiva JM, Dinis A, Resende C, Faria E, Gomes C, Correia AJ, et al. Schimke immuno-osseous dysplasia: case report and review of 25 patients. J Med Genet. 1999;36:786-9. (Pubitemid 29462326)
207. Boerkoel CF, Takashima H, John J, Yan J, Stankiewicz P, Rosenbarker L, et al. Mutant chromatin remodeling protein SMARCAL1 causes Schimke immuno-osseous dysplasia. Nat Genet. 2002;30:215-20.
208. Elizondo LI, Huang C, Northrop JL, Deguchi K, Clewing JM, Armstrong DL, et al. Schimke immuno-osseous dysplasia: a cell autonomous disorder? Am J Med Genet A. 2006; 140:340-8. (Pubitemid 43227647)
209. Postow L, Woo EM, Chait BT, Funabiki H. Identification of SMARCAL1 as a component of the DNA damage response. J Biol Chem. 2009;284:35951-61.
210. Clewing JM, Antalfy BC, Lucke T, Najafian B, Marwedel KM, Hori A, et al. Schimke immuno-osseous dysplasia: a clinico-pathological correlation. J Med Genet. 2007;44:122-30.
211. Deguchi K, Clewing JM, Elizondo LI, Hirano R, Huang C, Choi K, et al. Neurologic phenotype of Schimke immuno-osseous dysplasia and neurodevelopmental expression of SMARCAL1. J Neuropathol Exp Neurol. 2008;67:565-77. (Pubitemid 351787083)
212. Kilic SS, Donmez O, Sloan EA, Elizondo LI, Huang C, Andre JL, et al. Association of migraine-like headaches with Schimke immuno-osseous dysplasia. Am J Med Genet A. 2005;135:206-10. (Pubitemid 40769975)
213. Sigurdardottir S, Myers SM, Woodworth JM, Raymond GV. Mental retardation and seizure disorder in Schimke immunooss-eous dysplasia. Am J Med Genet. 2000;90:294-8. (Pubitemid 30084254)
214. Vulliamy TJ, Dokal I. Dyskeratosis congenita: the diverse clinical presentation of mutations in the telomerase complex. Biochimie. 2008;90:122-30. (Pubitemid 350216210)
215. Hoyeraal HM, Lamvik J, Moe PJ. Congenital hypoplastic thrombocytopenia and cerebral malformations in two brothers. Acta Paediatr Scand. 1970;59:185-91.
216. Hreidarsson S, Kristjansson K, Johannesson G, Johannsson JH. A syndrome of progressive pancytopenia with microcephaly, cerebellar hypoplasia and growth failure. Acta Paediatr Scand. 1988;77:773-5.
217. Knight SW, Heiss NS, Vulliamy TJ, Aalfs CM, McMahon C, Richmond P, et al. Unexplained aplastic anaemia, immunodeficiency, and cerebellar hypoplasia (Hoyeraal-Hreidarsson syndrome) due to mutations in the dyskeratosis congenita gene, DKC1. BrJ Haematol. 1999;107:335-9. (Pubitemid 29530220)
218. Mitchell JR, Cheng J, Collins K. A box H/ACA small nucleolar RNA-like domain at the human telomerase RNA 3' end. Mol Cell Biol. 1999;19:567-76. (Pubitemid 29018458)
219. Mitchell JR, Wood E, Collins K. A telomerase component is defective in the human disease dyskeratosis congenita. Nature. 1999;402:551-5.
220. Mattson MP, Klapper W. Emerging roles for telomerase in neuronal development and apoptosis. J Neurosci Res. 2001;63:1-9.
221. Berthet F, Tuchschmid P, Boltshauser E, Seger RA. The Hoyeraal-Hreidarsson syndrome: don't forget the associated immunodeficiency. Eur J Pediatr. 1995;154:998.
222. Akaboshi S, Yoshimura M, Hara T, Kageyama H, Nishikwa K, Kawakami T, et al. A case of Hoyeraal-Hreidarsson syndrome: delayed myelination and hypoplasia of corpus callosum are other important signs. Neuropediatrics. 2000;31: 141-4. (Pubitemid 30495438)
223. Pearson T, Curtis F, Al-Eyadhy A, Al-Tamemi S, Mazer B, Dror Y, et al. An intronic mutation in DKC1 in an infant with Hoyeraal-Hreidarsson syndrome. Am J Med Genet A. 2008;146A:2159-61.
224. Kirwan M, Dokal I. Dyskeratosis congenita: a genetic disorder of many faces. Clin Genet. 2008;73:103-12.
225. Grouhi M, Dalal I, Nisbet-Brown E, Roifman CM. Cerebral vasculitis associated with chronic mucocutaneous candidiasis. J Pediatr. 1998;133:571-4. (Pubitemid 28465390)
226. Nagashima T, Miyanoshita A, Sakiyama Y, Ozaki Y, Stan AC, Nagashima K. Cerebral vasculitis in chronic mucocutaneous candidiasis: autopsy case report. Neuropathology. 2000;20:309-14. (Pubitemid 32125548)
227. Talaat KR, Rothman JA, Cohen JI, Santi M, Choi JK, Guzman M, et al. Lymphocytic vasculitis involving the central nervous system occurs in patients with X-linked lymphoproliferative disease in the absence of Epstein-Barr virus infection. Pediatr Blood Cancer. 2009;53:1120-3.
228. Roifman CM, Chitayat D. Combined immunodeficiency, facial dysmorphism, optic nerve atrophy, skeletal anomalies and developmental delay: a new syndrome. Clin Genet. 2009; 76:449-57.
229. Briggs TA, Rice GI, Daly S, Urquhart J, Gornall H, Bader-Meunier B, et al. Tartrate-resistant acid phosphatase deficiency causes a bone dysplasia with autoimmunity and a type I interferon expression signature. Nat Genet. 2011;43:127-31.
230. Pulliero A, Fazzi E, Cartiglia C, Orcesi S, Balottin U, Uggetti C, et al. The Aicardi-Goutieres syndrome. Mutat Res: Molecular and clinical features of RNAse deficiency and microRNA overload; 2011.
231. Crow YJ, Rehwinkel J. Aicardi-Goutieres syndrome and related phenotypes: linking nucleic acid metabolism with autoimmunity. Hum Mol Genet. 2009;18:R130-6.
232. Kaufman DA, Hershfield MS, Bocchini JA, Moissidis IJ, Jeroudi M, Bahna SL. Cerebral lymphoma in an adenosine deaminase-deficient patient with severe combined immunodeficiency receiving polyethylene glycol-conjugated adenosine deaminase. Pediatrics. 2005;116:e876-9. (Pubitemid 46056469)
233. Ziegner UH, Kobayashi RH, Cunningham-Rundles C, Espanol T, Fasth A, Huttenlocher A, et al. Progressive neurodegeneration in patients with primary immunodeficiency disease on IVIG treatment. Clin Immunol. 2002;102:19-24. (Pubitemid 34095220)
234. Quan PL, Wagner TA, Briese T, Torgerson TR, Hornig M, Tashmukhamedova A, et al. Astrovirus encephalitis in boy with X-linked agammaglobulinemia. Emerg Infect Dis. 2010;16:918-25.