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.

2 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.

3 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.

4 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. J. Allergy Clin. Immunol. 125, 1354 (2010). 15. Kelesidis, T. & Yang, O.

5 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.

6 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). 21. Warnatz, K. et al. B-cell activating factor receptor deficiency is associated with an adult-onset antibody deficiency syndrome in humans.

7 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.

8 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. J. Immunol. 184, 7305 7313 (2010). 27. Eastwood, D. et al. Prevalence of SAP gene defects in male patients diagnosed with common variable immunodeficiency.

9 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.

10 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. 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.