Advances in basic and clinical immunology in 2013

Journal of Allergy and Clinical Immunology

Volumn 133, Issue 4, 2014, Pages 967-976

  Chinen, Javier ^a   Notarangelo, Luigi D ^b   Shearer, William T ^a  

^a TEXAS CHILDREN S HOSPITAL   (United States)

^b BOSTON CHILDREN S HOSPITAL   (United States)

Author keywords

Genotype versus phenotype expressions; immunology; immunoreconstitution; intravenous immunoglobulin; newborn screening for severe combined immunodeficiency; primary immunodeficiencies; whole genome sequencing

Indexed keywords

IMMUNOGLOBULIN A; IMMUNOGLOBULIN E; IMMUNOGLOBULIN G;

ALLERGIC REACTION; ARTICLE; ATOPIC DERMATITIS; ATRESIA; AUTOIMMUNITY; BONE MARROW TRANSPLANTATION; CELLULAR IMMUNODEFICIENCY; CHRONIC GRANULOMATOUS DISEASE; CLINICAL IMMUNOLOGY; COMBINED IMMUNODEFICIENCY; GENETIC ANALYSIS; GENETIC DISORDER; HEMATOPOIETIC STEM CELL TRANSPLANTATION; HUMAN; HUMORAL IMMUNE DEFICIENCY; HYPER IGE SYNDROME; IMMUNE DEFICIENCY; IMMUNOPHENOTYPING; IMMUNOTHERAPY; LYMPHOCYTOPENIA; MAST CELL DEGRANULATION; NEWBORN SCREENING; PELVIC INFLAMMATORY DISEASE; PRIORITY JOURNAL; SEVERE COMBINED IMMUNODEFICIENCY; WISKOTT ALDRICH SYNDROME;

GENOTYPE VERSUS PHENOTYPE EXPRESSIONS; IMMUNOLOGY; IMMUNORECONSTITUTION; INTRAVENOUS IMMUNOGLOBULIN; NEWBORN SCREENING FOR SEVERE COMBINED IMMUNODEFICIENCY; PRIMARY IMMUNODEFICIENCIES; WHOLE-GENOME SEQUENCING;

ALLERGY AND IMMUNOLOGY; ANIMALS; HUMANS; IMMUNE SYSTEM DISEASES; INFANT, NEWBORN; NEONATAL SCREENING; PHENOTYPE;

EID: 84897443703     PISSN: 00916749     EISSN: 10976825     Source Type: Journal    
DOI: 10.1016/j.jaci.2014.01.026     Document Type: Review

References (72)

1. P. Maggina, and A.R. Gennery Classification of primary immunodeficiencies: need for a revised approach? J Allergy Clin Immunol 131 2013 292 294
2. W. Al-Herz, A. Bousfiha, J.L. Casanova, H. Chapel, M.E. Conley, and C. Cunnignham Rundles et al. Primary immunodeficiency diseases, an update of the classification from the international union of immunological societies expert committee for primary immunodeficiency Front Immunol 2 2011 54
3. L.D. Notarangelo Partial defects of T cell development associated with poor T cell function J Allergy Clin Immunol 131 2013 1297 1305
4. W. Al Herz, and H. Al Mousa Combined immunodeficiency: the Middle East experience J Allergy Clin Immunol 131 2013 658 660
5. J.S. Orange Natural killer cell deficiency J Allergy Clin Immunol 132 2013 515 525
6. K.S. Campbell, and J. Hasegawa Natural killer cell biology: an update and future directions J Allergy Clin Immunol 2013 536 544
7. K. Pieper, B. Grimbacher, and H. Eibel B cell biology and development J Allergy Clin Immunol 131 2013 959 971
8. M. Mehling, V. Brinkmann, A.V. Burgener, P. Gubser, A.D. Luster, and L. Kaposs et al. Homing frequency of human T cells inferred from peripheral blood depletion kinetics after sphingosine-1-phosphate receptor blockade J Allergy Clin Immunol 131 2013 1440 1443
9. K. Hirahara, A. Poholek, G. Vahedi, A. Laurence, Y. Kanno, and J.D. Milner et al. Mechanisms underlying helper T cell plasticity: implication for immune-mediated disease J Allergy Clin Immunol 131 2013 1276 1287
10. M. Shimizu, H. Kanegane, T. Wada, M. Motoyoshi, T. Morio, and F. Candotti et al. Aberrant glycosylation of IgA in Wiskott-Aldrich syndrome and X-linked thrombocytopenia J Allergy Clin Immunol 131 2013 587 589
11. P.A. Lang, N. Shaabani, S. Borkens, N. Honke, S. Scheu, and A. Booth et al. Reduced Type I Interferon production by dendritic cells an weakened antiviral immunity in patients with Wiskott-Aldrich syndrome protein deficiency J Allergy Clin Immunol 131 2013 815 824
12. Y. Watanabe, Y. Sasahara, N. Ramesh, M.J. Massad, C.Y. Looi, and S. Kumaki et al. T-cell receptor ligation causes Wiskott-Aldrich protein degradation and F-actin assembly downregulation J Allergy Clin Immunol 132 2013 648 655
13. M.C. Mizesko, P.P. Banerjee, L. Monaco-Shawver, E.M. Mace, W.E. Bernal, and J. Sawalle-Belohradsky et al. Defective actin accumulation impairs human natural killer cell function in patients with dedicator of cytokinesis 8 deficiency J Allergy Clin Immunol 131 2013 840 848
14. A.M. Siegel, K.D. Stone, G. Cruse, M.G. Lawrence, A. Olivera, and M. Jung et al. Diminished allergic disease in patients with STAT3 mutations reveals a role for STAT3 signaling in mast cell degranulation J Allergy Clin Immunol 132 2013 1388 1396
15. M.L. Ives, C.S. Ma, U. Palendira, A. Chan, J. Bustamante, and S. Boisson-Dupuis et al. Signal transducer and activator of transcription 3 (STAT3) mutations underlying autosomal dominant hyper IgE syndrome impair human CD8+ T cell memory formation and function J Allergy Clin Immunol 132 2013 400 411
16. F. Mazerolles, C. Picard, S. Kracker, A. Fischer, and A. Durandy Blood CD4+CD45RO+ CXCR5+ T cells are decreased but partially functional in signal transducer and activator of transcription 3 deficiency J Allergy Clin Immunol 131 2013 1146 1156
17. P.L. Poliani, E. Fontana, C.M. Roifman, and L.D. Notarangelo z-chain associated protein of 70 kDa (ZAP70) deficiency in human subjects is associated with abnormalities in thymic stromal cells: implications for T cell tolerance J Allergy Clin Immunol 131 2013 597 600
18. R. Perez de Diego, C. Mulvey, M. Crawford, M.W.B. Trotter, L. Lorenzo, and V. Sancho-Shimizu et al. The proteome of Toll-like receptor 3-stimulated human immortalized fibroblast: implications for susceptibility herpes simplex encephalitis J Allergy Clin Immunol 131 2013 1157 1166
19. G.J. Driessen, H. Ijspeert, C.M.R. Weemaes, A. Haraldsson, M. Trip, and A. Warris et al. Antibody deficiency in patients with ataxia telangiectasia is caused by disturbed B- and T- cell homeostasis and reduced immune repertoire diversity J Allergy Clin Immunol 131 2013 1367 1375
20. M. Martinez-Gallo, L. Radigan, M.B. Almejun, N. Martinez-Pomar, N. Matamoros, and C. Cunningham-Rundles TACI mutations and impaired B cell function in subjects with CVID and healthy heterozygotes J Allergy Clin Immunol 132 2013 468 476
21. C.Y.G. Chew, U. Sinha, P.A. Gatenby, T. DeMalmanche, S. Adelstein, and R. Garsia et al. Autoimmunity in primary antibody deficiency is associated with protein tyrosine phosphatase nonreceptor type 22 (PTPN22) J Allergy Clin Immunol 131 2013 1130 1135
22. L. Kolly, N. Busso, A. von Scheven-Gete, N. Bagnoud, I. Moix, and D. Holzinger et al. Periodic fever, aphthous stomatitis, pharyngitis, cervical adenitis syndrome is linked to dysregulated monocyte IL-1b production J Allergy Clin Immunol 131 2013 1635 1643
23. N. Parvaneh, J.L. Casanova, L.D. Notarangelo, and M.E. Conley Primary immunodeficiencies: a rapidly evolving story J Allergy Clin Immunol 132 2013 314 323
24. J. Greil, T. Rausch, T. Giese, O.R. Bandapalli, V. Daniel, and I. Bekeredijian-Ding et al. Whole-exome sequencing links caspase recruitment domain 11 (CARD11) inactivation to severe combined immunodeficiency J Allergy Clin Immunol 131 2013 1376 1383
25. P. Stepensky, B. Keller, M. Buchta, A.K. Kienzler, O. Elpeleg, and R. Somech et al. Deficiency of caspase recruitment domain family, member 11 (CARD11), causes profound combined immunodeficiency in human subjects J Allergy Clin Immunol 131 2013 477 485
26. H.H. Jabara, T. Ohsumi, J. Chou, M.J. Masaad, H. Benson, and A. Megarbane et al. A homozygous mucosa-associated lymphoid tissue 1 (MALT1) mutation in a family with combined immunodeficiency J Allergy Clin Immunol 132 2013 151 158
27. R. Chen, S. Gilliani, G. Lanzi, G.I. Mias, S. Lonardi, and K. Dobbs et al. Whole-exome sequencing identifies tetratricopeptide repeat domain 7A (TTC7A) mutations for combined immunodeficiency with intestinal atresias J Allergy Clin Immunol 132 2013 656 664
28. A. Magerous-Chatinet, M.C. Stolzenberg, N. Lanzarotti, B. Neven, C. Daussy, and C. Picard et al. Autoimmune lymphoproliferative syndrome caused by a homozygous null FAS ligand (FASLG) mutation J Allergy Clin Immunol 131 2013 486 490
29. D.L. Dinwiddie, S.F. Kingsmore, S. Caracciolo, G. Rossi, D. Moratto, and C. Mazza et al. Combined DOCK8 and CLECL7A mutations causing immunodeficiency: 3 brothers with diarrhea, eczema and infections J Allergy Clin Immunol 131 2013 594 596
30. A.P. Hsu, K.J. Sowerwine, M.G. Lawrence, J. Davis, C.J. Henderson, and K.A. Zarember et al. Intermediate phenotypes in patients with autosomal dominant hyper IgE syndrome caused by somatic mosaicism J Allergy Clin Immunol 131 2013 1586 1593
31. G. Giancane, S. Ferrara, R. Carsetti, P. Papoff, M. Iacobini, and M. Duse Anhidrotic ectodermal dysplasia: a new mutation J Allergy Clin Immunol 132 2013 145 147
32. R.S. Abraham, M. Recher, S. Gilliani, J.E. Walter, Y.N. Lee, and F. Fragoni et al. Adult onset manifestation of idiopathic T-cell lymphopenia due to heterozygous RAG1 mutation J Allergy Clin Immunol 131 2013 1421 1422
33. L.A. Henderson, F. Fragoni, G. Hopkins, H. de Boer, S.Y. Pai, and Y.N. Lee et al. Expanding the spectrum of recombinase activating gene 1 deficiency: a family with early onset autoimmunity J Allergy Clin Immunol 132 2013 969 971
34. F. Cattaneo, M. Recher, S. Masneri, S.N. Baxi, C. Fiorini, and F. Antonelli et al. Hypomorphic Janus kinase 3 mutations result in a spectrum of immune defects, including partial maternal T-cell engraftment J Allergy Clin Immunol 131 2013 1136 1145
35. L. Farnault, H. Chambost, G. Michel, I. Thuret, G. de Saint Basile, and A. Fischer et al. Persistence of natural killer cells with expansion of a hypofunctional CD56CD16+KIR+NKG2C+ subset in a patient with atypical Janus kinase 3-deficient severe combined immunodeficiency J Allergy Clin Immunol 131 2013 1230 1231
36. D. Moshous, E. Martin, W. Carpentier, A. Lim, I. Callebaut, and D. Canioni et al. Whole-exome sequencing identifies Coronin-1A deficiency in 3 siblings with immunodeficiency and EBV-associated B-cell lymphoproliferation J Allergy Clin Immunol 131 2013 1594 1603
37. L.A. Henderson, F. Fragoni, G. Hopkins, W. AL-Herz, K. Weihacht, and A.M. Comeau et al. First reported case of Omenn syndrome in a patient with reticular dysgenesis J Allergy Clin Immunol 131 2013 1227 1230
38. X. Wang, Z. Lin, L. Gao, A. Wang, Z. Wan, and W. Chen et al. Exome sequencing reveals a signal transducer and activator of transcription 1 (STAT1) mutations in a child with recalcitrant fusariosis J Allergy Clin Immunol 131 2013 1242 1243
39. E.P. Sampaio, A.P. Hsu, J. Pechacek, H.I. Bax, D. Dias, and M.L. Paulson et al. Signal transducer and activator of transcription 1 (STAT1) gain-of-function mutations and disseminated coccidioidomycosis and histoplasmosis J Allergy Clin Immunol 131 2013 1624 1634
40. G. Uzel, E.P. Sampaio, M.G. Lawrence, A.P. Hsu, M. Hackett, and M.J. Dorsey et al. Dominant gain-of-function STAT1 mutations in FOXP3 wild-type immune dysregulation-polyendocrinopathy-enteropathy-X-linked-like syndrome J Allergy Clin Immunol 131 2013 1611 1623
41. N. Romberg, H. Morbach, M.G. Lawrence, S. Kim, I. Kang, and S. Holland et al. Gain-of-function STAT1 mutations are associated with PD-L1 overexpression and a defect in B cell survival J Allergy Clin Immunol 131 2013 1691 1693
42. E.J. Allenspach, C. Bellodi, D. Jeong, N. Kopmar, T. Nakamura, and H. Ochs et al. Common variable immunodeficiency as the initial presentation of dyskeratosis congenita J Allergy Clin Immunol 132 2013 223 225
43. C.M. Bacon, S.J. Wilkinson, G.P. Spickett, D. Barge, H.H. Lucraft, and G. Jackson et al. Epstein Barr independent diffuse large B cell lymphoma in DNA ligase 4 deficiency J Allergy Clin Immunol 131 2013 1237 1239
44. D. Al-Zahrani, A. Al-Ghonaium, H. Al-Mousa, A. Al-Kassar, and C.M. Roifman Skeletal abnormalities and successful hematopoietic stem cell transplantation in patients with reticular dysgenesis J Allergy Clin Immunol 132 2013 993 996
45. L. Tassone, A.C.C. Carvalho, A. Calabresi, E. Tortoli, E. Apostoli, and O. Scomodoro et al. Disseminated Mycobacterium genavense infection after immunosuppressive therapy shows underlying new composite heterozygous mutations of B1 unit of IL12 receptor gene J Allergy Clin Immunol 131 2013 607 610
46. J. Geeden, R. Pfundt, J. Meijer, F.W. Verheijen, A.B.P. van Kallenburg, and A. Warris et al. Severe phenotype of severe combined immunodeficiency caused by adenosine deaminase deficiency in a patient with a homozygous mutation due to uniparental unisomy J Allergy Clin Immunol 132 2013 222 223
47. L. Alsina, E. Gonzalez-Roca, M.T. Giner, M. Piquer, I. Puga, and M. Pascal et al. Massive parallel sequencing reveals maternal somatic IL2RG mosaicism in an X-linked severe combined immunodeficiency family J Allergy Clin Immunol 132 2013 741 743
48. J.K. Abbott, H.D. Ochs, and E.W. Gelfand Coding-region alterations in BTK do not universally cause X-linked agammaglobulinemia J Allergy Clin Immunol 132 2013 1246 1248
49. C. Kamae, N. Nakagawa, H. Saito, K. Honma, N. Mitsuiki, and O. Ohara et al. Common variable immunodeficiency classification by quantifying T cell receptor and immunoglobulin k-deleting recombination excision circles J Allergy Clin Immunol 131 2013 1437 1440
50. A. Kwan, J.A. Church, M.J. Cowan, R. Agarwal, N. Kapoor, and D.B. Kohn et al. Newborn screening for severe combined immunodeficiency in California: results of the first two years J Allergy Clin Immunol 132 2013 140 150
51. G. la Marca, C. Canessa, E. Giocaliere, F. Romano, M. Duse, and S. Malvagia et al. Tandem mass spectrometry, but not T cell receptor excision circle analysis, identifies newborns with late onset adenosine deaminase deficiency J Allergy Clin Immunol 131 2013 1604 1610
52. A. Lev, A.J. Simon, A. Broides, J. Levi, B.Z. Garty, and E. Rosenthal et al. Thymic function in MHC Class II-deficient patients J Allergy Clin Immunol 131 2013 831 839
53. C.Y. Kao, J. Chase, M.G. Lloret, E.R. Stiehm, T. Moore, and M.J.M. Aguilera et al. Newborn screening for severe combined immunodeficiency does not identify bare lymphocyte syndrome J Allergy Clin Immunol 131 2013 1693 1695
54. T. Cole, M.S. Pearce, A.J. Cant, C.M. Cale, D. Goldblatt, and A.R. Gennery Clinical outcome in children with chronic granulomatous disease managed conservatively or with hematopoietic stem cell transplantation J Allergy Clin Immunol 132 2013 1150 1155
55. M.Y. Koker, Y. Camcioglu, K. van Leeuwen, S.S. Kilic, I. Barlan, and M. Yilmaz et al. Clinical, functional and genetic characterization of chronic granulomatous disease in 89 Turkish patients J Allergy Clin Immunol 132 2013 1156 1163
56. L.D. Notarangelo The long road to optimal management for chronic granulomatous disease J Allergy Clin Immuol 132 2013 1164 1165
57. B. Horn, and M.J. Cowan Unresolved issues in hematopoietic stem cell transplantation for severe combined immunodeficiency: need for safer conditioning and reduced late effects J Allergy Clin Immunol 131 2013 1306 1311
58. E. Haddad, S. Leroy, and R.H. Buckley B-cell reconstitution for SCID: should a conditioning regimen be used in SCID treatment? J Allergy Clin Immunol 131 2013 994 1000
59. J. Jackson, P. Titman, S. Butler, K. Bond, A. Rao, and P. Veys et al. Cognitive and psychosocial function post hematopoietic stem cell transplantation in hemophagocytic lymphohystiocytosis J Allergy Clin Immunol 132 2013 889 895
60. M.G. Lawrence, J.S. Barber, R.A. Sokolic, E.K. Garabedian, A. Desai, and M. O'Brien et al. Elevated IgE and atopy in patients treated for early onset ADA-SCID J Allergy Clin Immunol 132 2013 1444 1446
61. H. Al-Mousa, A. Hawwari, and Z. Alsum In DOCK8 deficiency donor cell engraftment post-genoidentical hematopoietic stem cell transplantation is possible without conditioning J Allergy Clin Immunol 131 2013 1244 1245
62. K.R. Engelhardt, N. Shah, I. Faizura-Yeop, D.F. Kocacik Uygun, N. Frede, and A.M. Muise et al. Clinical outcome in IL-10 and IL10 receptor deficient patients with and without hematopoietic stem cell transplantation J Allergy Clin Immunol 131 2013 825 830
63. V.H.D. Kim, L. Murguia, T. Schechter, E. Gruneaum, and C.M. Roifman Emergency treatment for z chain-associated protein of 70 kDa (ZAP70) deficiency J Allergy Clin Immunol 131 2013 1233 1235
64. M. Slatter, Z. Nademi, S. Patel, D. Barge, M. Valappil, and K. Brigham et al. Haploidentical hematopoietic stem cell transplantation can lead to viral clearance in severe combined immunodeficiency J Allergy Clin Immunol 131 2013 1705 1709
65. H. Toyoda, E. Azuma, Y. Kawasaki, T. Iwasa, H. Ohashi, and S. Otsuki et al. Cord blood transplantation combined with rituximab for Wiskott-Aldrich syndrome with autoimmune thrombotic thrombocytopenic purpura J Allergy Clin Immunol 132 2013 226 227
66. E.W. Gelfand, H.D. Ochs, and W.T. Shearer Controversies in IgG replacement therapy in patients with antibody deficiency disease J Allergy Clin Immunol 131 2013 1001 1005
67. S. Agarwal, and C. Cunningham-Rundles Treatment of hypogammaglobulinemia in adults: a scoring system to guide decisions of immunoglobulin replacement J Allergy Clin Immunol 131 2013 1699 1701
68. T. Ducruet, M.C. Levasseur, A. Des Roches, A. Kafal, R. Dicaire, and E. Haddad Pharmaco-economic advantages of subcutaneous versus intravenous immunoglobulin treatment in a Canadian pediatric center J Allergy Clin Immunol 131 2013 585 587
69. J. van der Heidjen, J. Geissler, E. van Mirre, M. van Deuren, J.W.M. van der Meer, and A. Salama et al. A novel spliced variant of FcγRIIa: a risk factor for anaphylaxis in patients with hypogammaglobulinemia J Allergy Clin Immunol 131 2013 1408 1416
70. G. Wildbaum, E. Shahar, R. Katz, N. Karin, A. Etzioni, and S. Pollack Continuous G-CSF therapy for isolated chronic mucocutaneous candidiasis: complete clinical remission with restoration of IL-17 secretion J Allergy Clin Immunol 132 2013 761 763
71. J. van Loosdregt, R. Spreafico, M. Rossetti, B.J. Prakken, M. Lotz, and S. Albani Hydroxychloroquine preferentially induces apoptosis of CD45RO+ effector T cells by inhibiting autophagy: a possible mechanism for therapeutic modulation of T cells J Allergy Clin Immunol 131 2013 1443 1447
72. A.K. Kienzler, M. Rizzi, M. Reith, S.L. Nutt, and H. Eibel Inhibition of human B cell development into plasmablasts by histone deacetylase inhibitor valproic acid J Allergy Clin Immunol 131 2013 1695 1699