Autosomal recessive agammaglobulinemia due to defect in μ heavy chain caused by a novel mutation in the IGHM gene
Author:
Publisher
Springer Science and Business Media LLC
Subject
Genetics (clinical),Genetics,Immunology
Link
https://www.nature.com/articles/gene201714.pdf
Reference9 articles.
1. Conley ME, Dobbs AK, Farmer DM, Kilic S, Paris K, Grigoriadou S et al. Primary B cell immunodeficiencies: comparisons and contrasts. Annu Rev Immunol 2009; 27: 199–227.
2. Yel L, Minegishi Y, Coustan-Smith E, Buckley RH, Trübel H, Pachman LM et al. Mutations in the mu heavy chain gene in patients with agammaglobulinemia. N Engl J Med 1996; 335: 1486–1493.
3. Schiff C, Lemmers B, Deville A, Fougereau M, Meffre E . Autosomal primary immunodeficiencies affecting human BM B-cell differentiation. Immunol Rev 2000; 178: 91–98.
4. López Granados E, Porpiglia AS, Hogan MB, Matamoros N, Krasovec S, Pignata C et al. Clinical and molecular analysis of patients with defects in mu heavy chain gene. J Clin Invest 2002; 110: 1029–1035.
5. Milili M, Antunes H, Blanco-Betancourt C, Nogueiras A, Santos E, Vasconcelos J et al. A new case of autosomal recessive agammaglobulinemia with impaired pre-B cell differentiation due to a large deletion of the IGH locus. Eur J Pediatr 2002; 161: 479–484.
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