1. 1. MK C Gilmour, D Walshe, and C M Cale, Immunological and genetic analysis of 65 patients with a clinical suspicion of X linked hyper-Ig M. 2. Lougaris V, Badolato R, Ferrari S, et al. Hyper immunoglobulin M due to CD40 deficiency: clinical molecular, and immunological features. Immunological Reviews 2005;203(1):48-66. 3. Cooper MD, Faulk WP, Fudenberg HH, et al. Meeting report of the second international workshop on primary immunodeficiency disease in man held in St. Clin Immunol Immunopathol 1974;2(3):416-45. 4. Winkelstein JA, Marino MC, Ochs H, et al. The X-linked hyper-IgM syndrome: clinical and immunologic features of 79 patients. Medicine (Baltimore) 2003;82:373-84. 5. kwan SP, Kunkel L, Bruns G, et al. Mapping of the X-linked agammaglobulinemia locus by use of restriction fragment length polymorphism. J Clin Invest 1986;77:649–52. 6. Lee WI, Torgerson TR, Schumacher MJ, et al. Molecular analysis of a large cohort ofpatients with the hyper immunoglobulin M (IgM) syndrome. Blood 2005;105:1881-90. 7. Ferrari S, Giliani S, Insalaco A, et al. Mutations in CD40 gene causes an autosomal recessive form of immunodeficiency with hyper IgM. Proc Natl Acad Sci USA 2001;98:12614-9. 8. Levy J, Espanol-Boren T, Thomas C, et al. Clinical spectrum of X-linked hyper IgM syndrome. J Pediatrics 1997;131:47-54. 9. Minegishi Y, Lavoie A, Cunningham-Rundles C, et al. Mutations in activation-induced cytidine deaminase in patients with hyper IgM syndrome. Clin Immunol 2000;97:203-10. 10. Jain A, Ma CA, Liu S, et al. Specific missense mutations in NEMO result in hyper-IgM syndrome with hypohydrotic ectodermal dysplasia. Nat Immunol 2001;2:223-8. 11. Revy P, Muto T, Levy Y, et al, Durandy A. Activationinduced cytidine deaminase (AID) deficiency causes the autosomal recessive form of hyper-IgM syndrome (HIGM2). Cell 2000;102:565-75. 12. Imai K, Catalan N, Plebani A, et al. Hyper-IgM syndrome type 4 with a B lymphocyte-intrinsic selective deficiency in Ig class switch recombination. J Clin Invest 2003;112:136-42. 13. Kutukculer N, Moratto D, Aydinok Y, et al. Disseminated cryptosporidium infection in an infant with hyper-IgM syndrome caused by CD40 deficiency. J Pediatr 2003; 142:194 14. Mazzolari E, Lanzi G, Forino C, et al. First report of successful stem cell transplantation in a child with CD40 deficiency. Bone Marrow Transplant 2007; 40:279. 15. Lanzi G, Ferrari S, Vihinen M, et al. Different molecular behavior of CD40 mutants causing hyper-IgM syndrome. Blood 2010; 116:5867. 16. Imai K, Slupphaug G, Lee WI, et al. Human uracil-DNA glycosylase deficiency associated with profoundly impaired immunoglobulin class-switch recombination. Nat Immunol 2003; 4:1023. 17. Notarangelo LD, Hayward AR. X-linked immunodeficiency with hyper-IgM (XHIM). Clin Exp Immunol 2000;120:399-405. 18. Aghamohammadi A, Parvaneh N, Rezaei N, et al. Clinical and laboratory findings in hyper-IgM syndrome with novel CD40L and AICDA mutations. J Clin Immunol 2009; 29:769. 19. Seyama K, Nonoyama S, Gangsaas I, et al. Mutations of the CD40 ligand gene and its effect on CD40 ligand expression in patients with X-linked hyper IgM syndrome. Blood 1998;92:2421-34. 20. The International Chronic Granulomatous Disease Cooperative Study Group. A controlled trial of interferon gamma to prevent infection in chronic granulomatous disease. N Engl J Med 1991;324:509–16. 21. Gallerani I, Innocenti DD, Coronella G, et al. Cutaneous sarcoid-like granulomas in a patient with X-linked hyper-IgM syndrome. Pediatr Dermatol 2004;21:39-43. 22. Hayward AR, Levy J, Facchett, et al. Cholangiopathy and tumors of the pancreas, liver, and biliary tree in boys with X-linked immunodeficiency with hyper-IgM. J Immunol 1997;158:977–83. 23. Schuster A, Apfelstedt-Sylla E, Pusch CM, et al. Autoimmune retinopathy with RPE hypersensitivity and ‘negative ERG’ in X-linked hyper-IgM syndrome. Ocul Immunol Inflamm 2005;13:235-43 24. Goldman AS, Ritzman SE, Houston EW, et al. Dysgammaglobulinemia antibody deficiency syndrome: increased gamma-M globulins and decreased gamma-G and gamma-A globulins. J Pediatr 1967;70:16–27. 25. O’Gorman MRG, Zaas D, Paniagua M, et al. Development of a rapid whole blood flow cytometry procedure for the diagnosis of X-linked hyperIgM syndrome patients and carriers. Clin Immunol immunopathol 1997;85:172-81. 26. Allen RC, Armitage RJ, Conley ME, et al. CD40 ligand gene defects responsible for X-linked hyper-IgM syndrome. Science 1993;259:990-3. 27. Padayachee M, Feighery C, Finn A, et al. Mapping of the X-linked form of hyper-IgM syndrome (HIGM1) to Xq26 by close linkage to HPRT. Genomics 1992;14(2):551-3. 28. Durandy A, Revy P, Imai K, et al. Hyperimmunoglobulin M syndromes caused by intrinsic B-lymphocyte defects. Immunol Rev 2005;203:67-79. 29. Hadžic N, Pagliuca A, Rela M, et al. Correction of the hyper-IgM syndrome after liver and bone marrow transplantation. N Engl J Med 2000;321:320-4. 30. Thomas C, de Saint Basile G, Le Deist F, et al. Brief report: correction of X-linked hyper-IgM syndrome by allogeneic bone marrow transplantation. N Engl J Med 1995;333:426-9. 31. Khawaja K, Gennery AR, Flood TJ, et al. Bone marrow transplantation for CD40 ligand deficiency: a single centre experience. Arch Dis Child 2001;84:50811. 32. Tsuji Y, Imai K, Kajiwara M, et al. Hematopoietic stem cell transplantation for 30 patients with primary immunodeficiency diseases: 20 years experience of a single team. Bone Marrow Transplant 2006;37:469- 77. 33. Tomizawa D, Imai K, Ito S, et al. Allogeneic hematopoietic stem cell transplantation for seven children with X-linked hyper-IgM syndrome: a single center experience. Am J Hematol 2004; 76:33-39.