EULAR Textbook on Rheumatic Diseases

1 EULAR Textbook on Rheumatic Diseases References chapter 39 (Key references in bold print) 1. International Union of Immunological Societies Expert Committee on Primary Immunodeficiencies et al. Primary immunodeficiencies: 2009 update. J. Allergy Clin. Immunol. 124, 1161 1178 (2009). 2. Fischer, A., Hacein-Bey-Abina, S. & Cavazzana-Calvo, M. Gene therapy for primary adaptive immune deficiencies. J. Allergy Clin. Immunol. 127, 1356 1359 (2011). 3. Ozsahin, H. et al. Adenosine deaminase deficiency in adults. Blood 89, 2849 2855 (1997). 4. Gaspar, et al. How I treat ADA deficiency. Blood 114, 3524 3532 (2009). 5. Villa, A., Notarangelo, & Roifman, Omenn syndrome: inflammation in leaky severe combined immunodeficiency. J. Allergy Clin. Immunol. 122, 1082 1086 (2008). 6. Gadola, , Moins-Teisserenc, , Trowsdale, J., Gross, & Cerundolo, V. TAP deficiency syndrome. Clin. Exp. Immunol. 121, 173 178 (2000). 7. Engelhardt, et al. Large deletions and point mutations involving the dedicator of cytokinesis 8 (DOCK8) in the autosomal-recessive form of hyper-IgE syndrome.

2 J. Allergy Clin. Immunol. 124, 1289 (2009). 8. Zhang, Q. et al. Combined immunodeficiency associated with DOCK8 mutations. N. Engl. J. Med. 361, 2046 2055 (2009). 9. Conley, Genetics of hypogammaglobulinemia: what do we really know? Curr. Opin. Immunol. 21, 466 471 (2009). 10. BRUTON, Agammaglobulinemia. Pediatrics 9, 722 728 (1952). 11. Winkelstein, et al. X-linked agammaglobulinemia: report on a United States registry of 201 patients. Medicine (Baltimore) 85, 193 202 (2006). 12. Lederman, & Winkelstein, X-linked agammaglobulinemia: an analysis of 96 patients. Medicine (Baltimore) 64, 145 156 (1985). 13. Quinti, I. et al. Effectiveness of immunoglobulin replacement therapy on clinical outcome in patients with primary antibody deficiencies: results from a multicenter prospective cohort study. J. Clin. Immunol. 31, 315 322 (2011). 14. Lucas, M. et al. Infection outcomes in patients with common variable immunodeficiency disorders: relationship to immunoglobulin therapy over 22 years.

3 J. Allergy Clin. Immunol. 125, 1354 (2010). 15. Kelesidis, T. & Yang, O. Good's syndrome remains a mystery after 55 years: A systematic review of the scientific evidence. Clin. Immunol. 135, 347 363 (2010). 16. Yong, , Thaventhiran, & Grimbacher, B. A Rose is a Rose is a Rose, but CVID is Not CVID Common Variable Immune Deficiency (CVID), What do we Know in 2011? Adv. Immunol. 111, 47 107 (2011). 17. Salzer, U. et al. Screening of functional and positional candidate genes in families with common variable immunodeficiency. BMC Immunol. 9, 3 (2008). 18. Salzer, U. et al. Mutations in TNFRSF13B encoding TACI are associated with common variable immunodeficiency in humans. Nat. Genet. 37, 820 828 (2005). 19. van Zelm, et al. An antibody-deficiency syndrome due to mutations in the CD19 gene. N. Engl. J. Med. 354, 1901 1912 (2006). 20. van Zelm, et al. CD81 gene defect in humans disrupts CD19 complex formation and leads to antibody deficiency. J. Clin. Invest. 120, 1265 1274 (2010).

4 21. Warnatz, K. et al. B-cell activating factor receptor deficiency is associated with an adult-onset antibody deficiency syndrome in humans. Proc. Natl. Acad. Sci. 106, 13945 13950 (2009). 22. Kuijpers, et al. CD20 deficiency in humans results in impaired T cell-independent antibody responses. J. Clin. Invest. 120, 214 222 (2010). EULAR Textbook on Rheumatic Diseases 23. Grimbacher, B. et al. Homozygous loss of ICOS is associated with adult-onset common variable immunodeficiency. Nat Immunol 4, 261 268 (2003). 24. Eibel, H., Salzer, U. & Warnatz, K. Common variable immunodeficiency at the end of a prospering decade: towards novel gene defects and beyond. Curr Opin Allergy Clin Immunol 10, 526 533 (2010). 25. Warnatz, K. et al. Severe deficiency of switched memory B cells (CD27(+)IgM(-)IgD(-)) in subgroups of patients with common variable immunodeficiency: a new approach to classify a heterogeneous disease. Blood 99, 1544 1551 (2002). 26. Foerster, C. et al. B cell receptor-mediated calcium signaling is impaired in B lymphocytes of type Ia patients with common variable immunodeficiency.

5 J. Immunol. 184, 7305 7313 (2010). 27. Eastwood, D. et al. Prevalence of SAP gene defects in male patients diagnosed with common variable immunodeficiency. Clin. Exp. Immunol. 137, 584 588 (2004). 28. Rensing-Ehl, A. et al. Clinical and immunological overlap between autoimmune lymphoproliferative syndrome and common variable immunodeficiency. Clin. Immunol. 137, 357 365 (2010). 29. Rohr, J. et al. Atypical familial hemophagocytic lymphohistiocytosis due to mutations in UNC13D and STXBP2 overlaps with primary immunodeficiency Diseases . Haematologica 95, 2080 2087 (2010). 30. Agarwal, S. & Cunningham-Rundles, C. Autoimmunity in common variable immunodeficiency. Curr Allergy Asthma Rep 9, 347 352 (2009). 31. Quinti, I. et al. Long-term follow-up and outcome of a large cohort of patients with common variable immunodeficiency. J. Clin. Immunol. 27, 308 316 (2007). 32. Bates, et al. Granulomatous-lymphocytic lung disease shortens survival in common variable immunodeficiency.

6 Journal of Allergy and Clinical Immunology 114, 415 421 (2004). 33. Notarangelo, , Lanzi, G., Toniati, P. & Giliani, S. Immunodeficiencies due to defects of class-switch recombination. Immunol. Res. 38, 68 77 (2007). 34. Grewal, & Flavell, CD40 and CD154 in cell-mediated immunity. Annu. Rev. Immunol. 16, 111 135 (1998). 35. Vecchiarelli, A., Retini, C., Pietrella, D., Monari, C. & Kozel, T lymphocyte and monocyte interaction by CD40/CD40 ligand facilitates a lymphoproliferative response and killing of Cryptococcus neoformans in vitro. Eur. J. Immunol. 30, 1385 1393 (2000). 36. Gennery, et al. Treatment of CD40 ligand deficiency by hematopoietic stem cell transplantation: a survey of the European experience, 1993-2002. Blood 103, 1152 1157 (2004). 37. Revy, P. et al. Activation-induced cytidine deaminase (AID) deficiency causes the autosomal recessive form of the Hyper-IgM syndrome (HIGM2). Cell 102, 565 575 (2000). 38. Imai, K. et al. Human uracil-DNA glycosylase deficiency associated with profoundly impaired immunoglobulin class-switch recombination.

7 Nat Immunol 4, 1023 1028 (2003). 39. P ron, S. et al. Human PMS2 deficiency is associated with impaired immunoglobulin class switch recombination. J. Exp. Med. 205, 2465 2472 (2008). 40. Kracker, S., Gard s, P. & Durandy, A. Inherited defects of immunoglobulin class switch recombination. Adv. Exp. Med. Biol. 685, 166 174 (2010). 41. Albert, et al. X-linked thrombocytopenia (XLT) due to WAS mutations: clinical characteristics, long-term outcome, and treatment options. Blood 115, 3231 3238 (2010). 42. Notarangelo, , Miao, & Ochs, Wiskott-Aldrich syndrome. Curr. Opin. Hematol. 15, 30 36 (2008). 43. Ochs, & Thrasher, The Wiskott-Aldrich syndrome. Journal of Allergy and EULAR Textbook on Rheumatic Diseases Clinical Immunology 117, 725 38; quiz 739 (2006). 44. Moratto, D. 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.

8 Blood 118, 1675 1684 (2011). 45. Sullivan, , Mullen, , Blaese, & Winkelstein, A multiinstitutional survey of the Wiskott-Aldrich syndrome. J. Pediatr. 125, 876 885 (1994). 46. Rezaei, N., Notarangelo, L. & Aghamohammadi, A. Primary Immunodeficiency Diseases . 358 (Springer Verlag: 2008). 47. Lavin, Ataxia-telangiectasia: from a rare disorder to a paradigm for cell signalling and cancer. Nat. Rev. Mol. Cell Biol. 9, 759 769 (2008). 48. Chun, & Gatti, Ataxia-telangiectasia, an evolving phenotype. DNA Repair (Amst.) 3, 1187 1196 (2004). 49. Demuth, I. & Digweed, M. The clinical manifestation of a defective response to DNA double-strand breaks as exemplified by Nijmegen breakage syndrome. Oncogene 26, 7792 7798 (2007). 50. Nakano-Yokomizo, T. et al. The immunoreceptor adapter protein DAP12 suppresses B lymphocyte-driven adaptive immune responses. J. Exp. Med. 208, 1661 1671 (2011). 51. Nijmegen breakage syndrome. The International Nijmegen Breakage Syndrome Study Group.

9 Arch. Dis. Child. 82, 400 406 (2000). 52. Varon, R. et al. Clinical ascertainment of Nijmegen breakage syndrome (NBS) and prevalence of the major mutation, 657del5, in three Slav populations. Eur. J. Hum. Genet. 8, 900 902 (2000). 53. Devriendt, K., Fryns, , Mortier, G., van Thienen, & Keymolen, K. The annual incidence of DiGeorge/velocardiofacial syndrome. J. Med. Genet. 35, 789 790 (1998). 54. Ryan, et al. Spectrum of clinical features associated with interstitial chromosome 22q11 deletions: a European collaborative study. J. Med. Genet. 34, 798 804 (1997). 55. McDonald-McGinn, & Sullivan, Chromosome deletion syndrome (DiGeorge syndrome/velocardiofacial syndrome). Medicine (Baltimore) 90, 1 18 (2011). 56. Land, et al. Long-term results of bone marrow transplantation in complete DiGeorge syndrome. Journal of Allergy and Clinical Immunology 120, 908 915 (2007). 57. Markert, et al. Review of 54 patients with complete DiGeorge anomaly enrolled in protocols for thymus transplantation: outcome of 44 consecutive transplants.

10 Blood 109, 4539 4547 (2007). 58. Grimbacher, B., Holland, & Puck, Hyper-IgE syndromes. Immunol. Rev. 203, 244 250 (2005). 59. Ma, et al. Deficiency of Th17 cells in hyper IgE syndrome due to mutations in STAT3. J. Exp. Med. 205, 1551 1557 (2008). 60. Woellner, C. et al. Mutations in STAT3 and diagnostic guidelines for hyper-IgE syndrome. J. Allergy Clin. Immunol. 125, 424 (2010). 61. MD, & MD, New host defense mechanisms against Candida species clarify the basis of clinical phenotypes. Journal of Allergy and Clinical Immunology 127, 1433 1437 (2011). 62. Liu, L. et al. Gain-of-function human STAT1 mutations impair IL-17 immunity and underlie chronic mucocutaneous candidiasis. J. Exp. Med. 208, 1635 1648 (2011). 63. Puel, A. et al. Chronic mucocutaneous candidiasis in humans with inborn errors of interleukin-17 immunity. Science 332, 65 68 (2011). 64. Glocker, et al. A homozygous CARD9 mutation in a family with susceptibility to EULAR Textbook on Rheumatic Diseases fungal infections.