Genetic Conditions > X-linked hyper IgM syndrome >

References

These sources were used to develop the Genetics Home Reference condition summary on X-linked hyper IgM syndrome.

Bhushan A, Covey LR. CD40:CD40L interactions in X-linked and non-X-linked hyper-IgM syndromes. Immunol Res. 2001;24(3):311-24. Review. PubMed citation
Durandy A. Hyper-IgM syndromes: a model for studying the regulation of class switch recombination and somatic hypermutation generation. Biochem Soc Trans. 2002 Aug;30(4):815-8. Review. PubMed citation
Gene Review: X-Linked Hyper IgM Syndrome
Gilmour KC, Walshe D, Heath S, Monaghan G, Loughlin S, Lester T, Norbury G, Cale CM. Immunological and genetic analysis of 65 patients with a clinical suspicion of X linked hyper-IgM. Mol Pathol. 2003 Oct;56(5):256-62. PubMed citation
Jain A, Atkinson TP, Lipsky PE, Slater JE, Nelson DL, Strober W. Defects of T-cell effector function and post-thymic maturation in X-linked hyper-IgM syndrome. J Clin Invest. 1999 Apr;103(8):1151-8. PubMed citation
Levy J, Espanol-Boren T, Thomas C, Fischer A, Tovo P, Bordigoni P, Resnick I, Fasth A, Baer M, Gomez L, Sanders EA, Tabone MD, Plantaz D, Etzioni A, Monafo V, Abinun M, Hammarstrom L, Abrahamsen T, Jones A, Finn A, Klemola T, DeVries E, Sanal O, Peitsch MC, Notarangelo LD. Clinical spectrum of X-linked hyper-IgM syndrome. J Pediatr. 1997 Jul;131(1 Pt 1):47-54. PubMed citation
Thusberg J, Vihinen M. The structural basis of hyper IgM deficiency - CD40L mutations. Protein Eng Des Sel. 2007 Mar;20(3):133-41. Epub 2007 Feb 16. PubMed citation
Winkelstein JA, Marino MC, Ochs H, Fuleihan R, Scholl PR, Geha R, Stiehm ER, Conley ME. The X-linked hyper-IgM syndrome: clinical and immunologic features of 79 patients. Medicine (Baltimore). 2003 Nov;82(6):373-84. PubMed citation


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