Genetic Immunodeficiency Diseases

Advances in Dermatology

Volumn 23, Issue , 2007, Pages 197-229

  Abrams, Melissa ^a   Paller, Amy ^a  

^a NORTHWESTERN UNIVERSITY   (United States)

Author keywords

[No Author keywords available]

Indexed keywords

IMMUNOGLOBULIN;

GENETICS; HUMAN; IMMUNE DEFICIENCY; IMMUNOLOGY; LYMPHOCYTE; METABOLISM; MUTATION; REVIEW; SKIN DISEASE;

HUMANS; IMMUNOGLOBULINS; IMMUNOLOGIC DEFICIENCY SYNDROMES; LYMPHOCYTES; MUTATION; SKIN DISEASES;

EID: 36049027745     PISSN: 08820880     EISSN: None     Source Type: Book Series    
DOI: 10.1016/j.yadr.2007.08.001     Document Type: Review

References (100)

1. Bonilla F.A., Bernstein I.L., Khan D.A., et al. Practice parameter for the diagnosis and management of primary immunodeficiency. Ann Allergy Asthma Immunol 94 (2005) S1-S63
2. Skoda-Smith S., and Barrett D.J. When earaches and sore throats are more than a pain in the neck. Contemp Pediatr 17 (2000) 156-167
3. Kirkpatrick C.H. Chronic mucocutaneous candidiasis. Pediatr Infect Dis J 20 (2001) 197-206
4. Liston A., Lesage S., Wilson J., et al. Aire regulates negative selection of organ-specific T cells. Nat Immunol 4 (2003) 350-354
5. Lilic D., Gravenor I., Robson N., et al. Deregulated production of protective cytokines in response to Candida albicans infection in patients with chronic mucocutaneous candidiasis. Infect Immun 71 (2003) 5690-5699
6. Ahonen P., Myllarniemi S., Sipila I., et al. Clinical variation of autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy (APECED) in a series of 68 patients. N Engl J Med 322 (1990) 1829-1836
7. Vogel A., Strassburg C.P., Obermayer-Straub P., et al. The genetic background of autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy and its autoimmune disease components. J Mol Med 80 (2002) 201-211
8. Halonen M., Eskelin P., Myhre A.G., et al. AIRE mutations and human leukocyte antigen genotypes as determinants of the autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy phenotype. J Clin Endocrinol Metab 87 (2002) 2568-2574
9. Collins S.M., Dominguez M., Ilmarinen T., et al. Dermatological manifestations of autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy syndrome. Br J Dermatol 154 (2006) 1088-1093
10. Brennan T.E., and Pearson R.W. Abnormal elastic tissue in cartilage-hair hypoplasia. Arch Dermatol 124 (1988) 1411-1414
11. Hermanns P., Bertuch A.A., Bertin T.K., et al. Consequences of mutations in the non-coding RMRP RNA in cartilage-hair hypoplasia. Hum Mol Genet 14 (2005) 3723-3740
12. Makitie O., Kaitila I., and Savilahti E. Deficiency of humoral immunity in cartilage-hair hypoplasia. J Pediatr 137 (2000) 487-492
13. Makitie O., Pukkala E., Teppo L., et al. Increased incidence of cancer in patients with cartilage-hair hypoplasia. J Pediatr 134 (1999) 315-318
14. Conley M.E., Broides A., Hernandez-Trujillo V., et al. Genetic analysis of patients with defects in early B-cell development. Immunol Rev 203 (2005) 216-234
15. Arbiser J.L. Genetic immunodeficiencies: cutaneous manifestations and recent progress. J Am Acad Dermatol 33 (1995) 82-89
16. Lederman H.M., and Winkelstein J.A. X-linked agammaglobulinemia: an analysis of 96 patients. Medicine (Baltimore) 64 (1985) 145-156
17. Ochs H.D., and Smith C.I. X-linked agammaglobulinemia. A clinical and molecular analysis. Medicine (Baltimore) 75 (1996) 287-299
18. Cunningham-Rundles C., and Bodian C. Common variable immunodeficiency: clinical and immunological features of 248 patients. Clin Immunol 92 (1999) 34-48
19. Castigli E., and Geha R.S. Molecular basis of common variable immunodeficiency. J Allergy Clin Immunol 117 (2006) 740-746 [quiz 747]
20. Primary immunodeficiency diseases. Report of a WHO scientific group. Clin Exp Immunol 109 Suppl 1 (1997) 1-28
21. Cunningham-Rundles C., Siegal F.P., Cunningham-Rundles S., et al. Incidence of cancer in 98 patients with common varied immunodeficiency. J Clin Immunol 7 (1987) 294-299
22. Castigli E., Wilson S.A., Garibyan L., et al. TACI is mutant in common variable immunodeficiency and IgA deficiency. Nat Genet 37 (2005) 829-834
23. Cunningham-Rundles C. Clinical and immunologic analyses of 103 patients with common variable immunodeficiency. J Clin Immunol 9 (1989) 22-33
24. Sennhauser F.H., Hosking C.S., Jones C.L., et al. Anti-IgA antibodies in IgA-deficient children. J Clin Immunol 8 (1988) 356-361
25. Winkelstein J.A., Marino M.C., Ochs H., et al. The X-linked hyper-IgM syndrome: clinical and immunologic features of 79 patients. Medicine (Baltimore) 82 (2003) 373-384
26. Minegishi Y., Lavoie A., Cunningham-Rundles C., et al. Mutations in activation-induced cytidine deaminase in patients with hyper IgM syndrome. Clin Immunol 97 (2000) 203-210
27. Revy P., Muto T., Levy Y., et al. Activation-induced cytidine deaminase (AID) deficiency causes the autosomal recessive form of the Hyper-IgM syndrome (HIGM2). Cell 102 (2000) 565-575
28. Chang M.W., Romero R., Scholl P.R., et al. Mucocutaneous manifestations of the hyper-IgM immunodeficiency syndrome. J Am Acad Dermatol 38 (1998) 191-196
29. Skare J.C., Sullivan J.L., and Milunsky A. Mapping the mutation causing the X-linked lymphoproliferative syndrome in relation to restriction fragment length polymorphisms on Xq. Hum Genet 82 (1989) 349-353
30. Perry III G.S., Spector B.D., Schuman L.M., et al. The Wiskott-Aldrich syndrome in the United States and Canada (1892-1979). J Pediatr 97 (1980) 72-78
31. Orange J.S., Stone K.D., Turvey S.E., et al. The Wiskott-Aldrich syndrome. Cell Mol Life Sci 61 (2004) 2361-2385
32. Notarangelo L.D., Notarangelo L.D., and Ochs H.D. WASP and the phenotypic range associated with deficiency. Curr Opin Allergy Clin Immunol 5 (2005) 485-490
33. Park J.Y., Kob M., Prodeus A.P., et al. Early deficit of lymphocytes in Wiskott-Aldrich syndrome: possible role of WASP in human lymphocyte maturation. Clin Exp Immunol 136 (2004) 104-110
34. Schurman S.H., and Candotti F. Autoimmunity in Wiskott-Aldrich syndrome. Curr Opin Rheumatol 15 (2003) 446-453
35. Ochs H.D., and Thrasher A.J. The Wiskott-Aldrich syndrome. J Allergy Clin Immunol 117 (2006) 725-738 [quiz 739]
36. Sullivan K.E., Mullen C.A., Blaese R.M., et al. A multiinstitutional survey of the Wiskott-Aldrich syndrome. J Pediatr 125 (1994) 876-885
37. Conley M.E., Saragoussi D., Notarangelo L., et al. An international study examining therapeutic options used in treatment of Wiskott-Aldrich syndrome. Clin Immunol 109 (2003) 272-277
38. Ozsahin H., Le Deist F., Benkerrou M., et al. Bone marrow transplantation in 26 patients with Wiskott-Aldrich syndrome from a single center. J Pediatr 129 (1996) 238-244
39. Rudd C.E. Disabled receptor signaling and new primary immunodeficiency disorders. N Engl J Med 354 (2006) 1874-1877
40. Buckley R.H. The multiple causes of human SCID. J Clin Invest 114 (2004) 1409-1411
41. Kung C., Pingel J.T., Heikinheimo M., et al. Mutations in the tyrosine phosphatase CD45 gene in a child with severe combined immunodeficiency disease. Nat Med 6 (2000) 343-345
42. O'Driscoll M., Cerosaletti K.M., Girard P.M., et al. DNA ligase IV mutations identified in patients exhibiting developmental delay and immunodeficiency. Mol Cell 8 (2001) 1175-1185
43. de la Calle-Martin O., Hernandez M., Ordi J., et al. Familial CD8 deficiency due to a mutation in the CD8 alpha gene. J Clin Invest 108 (2001) 117-123
44. Puck J.M., and Malech H.L. Gene therapy for immune disorders: good news tempered by bad news. J Allergy Clin Immunol 117 (2006) 865-869
45. Buckley R.H., Schiff S.E., Schiff R.I., et al. Hematopoietic stem-cell transplantation for the treatment of severe combined immunodeficiency. N Engl J Med 340 (1999) 508-516
46. Orange J.S., Jain A., Ballas Z.K., et al. The presentation and natural history of immunodeficiency caused by nuclear factor kappaB essential modulator mutation. J Allergy Clin Immunol 113 (2004) 725-733
47. Courtois G., Smahi A., Reichenbach J., et al. A hypermorphic IkappaBalpha mutation is associated with autosomal dominant anhidrotic ectodermal dysplasia and T cell immunodeficiency. J Clin Invest 112 (2003) 1108-1115
48. Baeuerle P.A., and Baltimore D. Activation of DNA-binding activity in an apparently cytoplasmic precursor of the NF-kappa B transcription factor. Cell 53 (1988) 211-217
49. Orange J.S., and Geha R.S. Finding NEMO: genetic disorders of NF-[kappa]B activation. J Clin Invest 112 (2003) 983-985
50. Uzel G. The range of defects associated with nuclear factor kappaB essential modulator. Curr Opin Allergy Clin Immunol 5 (2005) 513-518
51. Doffinger R., Smahi A., Bessia C., et al. X-linked anhidrotic ectodermal dysplasia with immunodeficiency is caused by impaired NF-kappaB signaling. Nat Genet 27 (2001) 277-285
52. Orange J.S., Levy O., Brodeur S.R., et al. Human nuclear factor kappa B essential modulator mutation can result in immunodeficiency without ectodermal dysplasia. J Allergy Clin Immunol 114 (2004) 650-656
53. Orange J.S., Levy O., and Geha R.S. Human disease resulting from gene mutations that interfere with appropriate nuclear factor-kappaB activation. Immunol Rev 203 (2005) 21-37
54. Puel A., Picard C., Ku C.L., et al. Inherited disorders of NF-kappaB-mediated immunity in man. Curr Opin Immunol 16 (2004) 34-41
55. Shiloh Y. ATM and related protein kinases: safeguarding genome integrity. Nat Rev Cancer 3 (2003) 155-168
56. Khanna K.K. Cancer risk and the ATM gene: a continuing debate. J Natl Cancer Inst 92 (2000) 795-802
57. Hannan M.A., Hellani A., Al-Khodairy F.M., et al. Deficiency in the repair of UV-induced DNA damage in human skin fibroblasts compromised for the ATM gene. Carcinogenesis 23 (2002) 1617-1624
58. Paller A.S., Massey R.B., Curtis M.A., et al. Cutaneous granulomatous lesions in patients with ataxia-telangiectasia. J Pediatr 119 (1991) 917-922
59. Nowak-Wegrzyn A., Crawford T.O., Winkelstein J.A., et al. Immunodeficiency and infections in ataxia-telangiectasia. J Pediatr 144 (2004) 505-511
60. Loeb D.M., Lederman H.M., and Winkelstein J.A. Lymphoid malignancy as a presenting sign of ataxia-telangiectasia. J Pediatr Hematol Oncol 22 (2000) 464-467
61. Morrell D., Cromartie E., and Swift M. Mortality and cancer incidence in 263 patients with ataxia-telangiectasia. J Natl Cancer Inst 77 (1986) 89-92
62. Schubert R., Reichenbach J., and Zielen S. Growth factor deficiency in patients with ataxia telangiectasia. Clin Exp Immunol 140 (2005) 517-519
63. Shoelson S.E. Banking on ATM as a new target in metabolic syndrome. Cell Metab 4 (2006) 337-338
64. Simpson J.L., and Rajkovic A. Ovarian differentiation and gonadal failure. Am J Med Genet 89 (1999) 186-200
65. Grimbacher B., Holland S.M., and Puck J.M. Hyper-IgE syndromes. Immunol Rev 203 (2005) 244-250
66. Grimbacher B., Schaffer A.A., Holland S.M., et al. Genetic linkage of hyper-IgE syndrome to chromosome 4. Am J Hum Genet 65 (1999) 735-744
67. Garraud O., Mollis S.N., Holland S.M., et al. Regulation of immunoglobulin production in hyper-IgE (Job's) syndrome. J Allergy Clin Immunol 103 (1999) 333-340
68. Borges W.G., Augustine N.H., and Hill H.R. Defective interleukin-12/interferon-gamma pathway in patients with hyperimmunoglobulinemia E syndrome. J Pediatr 136 (2000) 176-180
69. Chamlin S.L., McCalmont T.H., Cunningham B.B., et al. Cutaneous manifestations of hyper-IgE syndrome in infants and children. J Pediatr 141 (2002) 572-575
70. Shemer A., Weiss G., Confino Y., et al. The hyper-IgE syndrome. Two cases and review of the literature. Int J Dermatol 40 (2001) 622-628
71. Renner E.D., Puck J.M., Holland S.M., et al. Autosomal recessive hyperimmunoglobulin E syndrome: a distinct disease entity. J Pediatr 144 (2004) 93-99
72. Etzioni A., Shehadeh N., Brecher A., et al. Cyclosporin A in hyperimmunoglobulin E syndrome. Ann Allergy Asthma Immunol 78 (1997) 413-414
73. Wolach B., Eliakim A., Pomeranz A., et al. Cyclosporin treatment of hyperimmunoglobulin E syndrome. Lancet 347 (1996) 67
74. Kimata H. High-dose intravenous gamma-globulin treatment for hyperimmunoglobulinemia E syndrome. J Allergy Clin Immunol 95 (1995) 771-774
75. King C.L., Gallin J.I., Malech H.L., et al. Regulation of immunoglobulin production in hyperimmunoglobulin E recurrent-infection syndrome by interferon gamma. Proc Natl Acad Sci USA 86 (1989) 10085-10089
76. Gennery A.R., Flood T.J., Abinun M., et al. Bone marrow transplantation does not correct the hyper IgE syndrome. Bone Marrow Transplant 25 (2000) 1303-1305
77. Rosenzweig S.D., and Holland S.M. Phagocyte immunodeficiencies and their infections. J Allergy Clin Immunol 113 (2004) 620-626
78. Repo H., and Harlan J.M. Mechanisms and consequences of phagocyte adhesion to endothelium. Ann Med 31 (1999) 156-165
79. Luhn K., Wild M.K., Eckhardt M., et al. The gene defective in leukocyte adhesion deficiency II encodes a putative GDP-fucose transporter. Nat Genet 28 (2001) 69-72
80. Etzioni A., and Alon R. Leukocyte adhesion deficiency III: a group of integrin activation defects in hematopoietic lineage cells. Curr Opin Allergy Clin Immunol 4 (2004) 485-490
81. Ambruso D.R., Knall C., Abell A.N., et al. Human neutrophil immunodeficiency syndrome is associated with an inhibitory Rac2 mutation. Proc Natl Acad Sci USA 97 (2000) 4654-4659
82. Anderson D.C., Schmalsteig F.C., Finegold M.J., et al. The severe and moderate phenotypes of heritable Mac-1, LFA-1 deficiency: their quantitative definition and relation to leukocyte dysfunction and clinical features. J Infect Dis 152 (1985) 668-689
83. Alon R., and Etzioni A. LAD-III, a novel group of leukocyte integrin activation deficiencies. Trends Immunol 24 (2003) 561-566
84. Narchi H. Ulcero-necrotic cutaneous lesions in an infant. Eur J Pediatr 159 (2000) 385-387
85. Fang F.C. Antimicrobial reactive oxygen and nitrogen species: concepts and controversies. Nat Rev Microbiol 2 (2004) 820-832
86. Reeves E.P., Lu H., Jacobs H.L., et al. Killing activity of neutrophils is mediated through activation of proteases by K+ flux. Nature 416 (2002) 291-297
87. White C.J., and Gallin J.I. Phagocyte defects. Clin Immunol Immunopathol 40 (1986) 50-61
88. Winkelstein J.A., Marino M.C., Johnston Jr. R.B., et al. Chronic granulomatous disease. Report on a national registry of 368 patients. Medicine (Baltimore) 79 (2000) 155-169
89. Jirapongsananuruk O., Malech H.L., Kuhns D.B., et al. Diagnostic paradigm for evaluation of male patients with chronic granulomatous disease, based on the dihydrorhodamine 123 assay. J Allergy Clin Immunol 111 (2003) 374-379
90. Gallin J.I., Alling D.W., Malech H.L., et al. Itraconazole to prevent fungal infections in chronic granulomatous disease. N Engl J Med 348 (2003) 2416-2422
91. A controlled trial of interferon gamma to prevent infection in chronic granulomatous disease. The international chronic granulomatous disease cooperative study group. N Engl J Med 324 (1991) 509-516
92. Nagle D.L., Karim M.A., Woolf E.A., et al. Identification and mutation analysis of the complete gene for Chediak-Higashi syndrome. Nat Genet 14 (1996) 307-311
93. Stinchcombe J., Bossi G., and Griffiths G.M. Linking albinism and immunity: the secrets of secretory lysosomes. Science 305 (2004) 55-59
94. Al-Khenaizan S. Hyperpigmentation in Chediak-Higashi syndrome. J Am Acad Dermatol 49 (2003) S244-S246
95. Langford G.M., and Molyneaux B.J. Myosin V in the brain: mutations lead to neurological defects. Brain Res Brain Res Rev 28 (1998) 1-8
96. Menasche G., Pastural E., Feldmann J., et al. Mutations in RAB27A cause Griscelli syndrome associated with haemophagocytic syndrome. Nat Genet 25 (2000) 173-176
97. Menasche G., Ho C.H., Sanal O., et al. Griscelli syndrome restricted to hypopigmentation results from a melanophilin defect (GS3) or a MYO5A F-exon deletion (GS1). J Clin Invest 112 (2003) 450-456
98. Mancini A.J., Chan L.S., and Paller A.S. Partial albinism with immunodeficiency: Griscelli syndrome: report of a case and review of the literature. J Am Acad Dermatol 38 (1998) 295-300
99. Durandy A., Breton-Gorius J., Guy-Grand D., et al. Prenatal diagnosis of syndromes associating albinism and immune deficiencies (Chediak-Higashi syndrome and variant). Prenat Diagn 13 (1993) 13-20
100. Kumar M., Sackey K., Schmalstieg F., et al. Griscelli syndrome: rare neonatal syndrome of recurrent hemophagocytosis. J Pediatr Hematol Oncol 23 (2001) 464-468