AghamohammadiAParvanehNRezaeiN. Clinical and laboratory findings in hyper-IgM syndrome with novel CD40L and AICDA mutations. J Clin Immunol. 2009;29:769-776.
4.
SimonGSimonGErdösMMaródiL. Invasive Cryptococcus laurentii disease in a nine-year-old boy with X-linked hyper-immunoglobulin M syndrome. Pediatr Infect Dis J. 2005;24:935-937.
5.
YongPFPostFAGilmourKC. Cerebral toxoplasmosis in a middle-aged man as first presentation of primary immunodeficiency due to a hypomorphic mutation in the CD40 ligand gene. J Clin Pathol. 2008;61:1220-1222.
6.
HaywardARLevyJFacchettiF. Cholangiopathy and tumors of the pancreas, liver, and biliary tree in boys with X-linked immunodeficiency with hyper-IgM. J Immunol. 1997;158:977-983.
7.
ErdosMGaramiMRákócziE. Neuroendocrine carcinoma associated with X-linked hyper-immunoglobulin M syndrome: report of four cases and review of the literature. Clin Immunol. 2008;129:455-461.
8.
KasaharaYKanekoHFukaoT. Hyper-IgM syndrome with putative dominant negative mutation in activation-induced cytidine deaminase. J Allergy Clin Immunol. 2003;112:755-760.
9.
ImaiKZhuYRevyP. Analysis of class switch recombination and somatic hypermutation in patients affected with autosomal dominant hyper-IgM syndrome type 2. Clin Immunol. 2005;115:277-285.
10.
RevyPMutoTLevyY. Activation-induced cytidine deaminase (AID) deficiency causes the autosomal recessive form of the hyper-IgM syndrome (HIGM2). Cell. 2000;102:565-575.
11.
QuartierPBustamanteJSanalO. Clinical, immunologic and genetic analysis of 29 patients with autosomal recessive hyper-IgM syndrome due to activation-induced cytidine deaminase deficiency. Clin Immunol. 2004;110:22-29.
12.
MinegishiYLavoieACunningham-RundlesC. Mutations in activation-induced cytidine deaminase in patients with hyper IgM syndrome. Clin Immunol. 2000;97:203-210.
13.
FerrariSGilianiSInsalacoA. Mutations of CD40 gene cause an autosomal recessive form of immunodeficiency with hyper IgM. Proc Natl Acad Sci U S A. 2001;98:12614-12619.
14.
KutukculerNMorattoDAydinokY. Disseminated cryptosporidium infection in an infant with hyper-IgM syndrome caused by CD40 deficiency. J Pediatr. 2003;142:194-196.
15.
MazzolariELanziGForinoC. First report of successful stem cell transplantation in a child with CD40 deficiency. Bone Marrow Transplant. 2007;40:279-281.
16.
LanziGFerrariSVihinenM. Different molecular behavior of CD40 mutants causing hyper-IgM syndrome. Blood. 2010;116:5867-5874.
17.
ImaiKCatalanNPlebaniA. Hyper-IgM syndrome type 4 with a B lymphocyte-intrinsic selective deficiency in Ig class-switch recombination. J Clin Invest. 2003;112:136-142.
18.
StavnezerJGuikemaJESchraderCE. Mechanism and regulation of class switch recombination. Annu Rev Immunol. 2008;26:261-292.
19.
KrackerSGardesPMazerollesFDurandyA. Immunoglobulin class switch recombination deficiencies. Clin Immunol. 2010;135:193-203.
20.
ElguetaRBensonMJde VriesVCWasiukAGuoYNoelleRJ. Molecular mechanism and function of CD40/CD40L engagement in the immune system. Immunol Rev. 2009;229:152-172.
21.
ImaiKSlupphaugGLeeWI. Human uracil-DNA glycosylase deficiency associated with profoundly impaired immunoglobulin class-switch recombination. Nat Immunol. 2003;4:1023-1028.
22.
MaulRWGearhartPJ. AID and somatic hypermutation. Adv Immunol. 2010;105:159-191.
23.
NotarangeloLDDuseMUgazioAG. Immunodeficiency with hyper-IgM (HIM). Immunodefic Rev. 1992;3:101-121.
