Hyper immunoglobulin M syndrome in a 15-year-old boy caused by a Gly219Arg missense mutation
Author:
Publisher
Elsevier BV
Subject
Pulmonary and Respiratory Medicine,Immunology and Allergy,Immunology
Reference10 articles.
1. Defective expression of T-cell CD40 ligand causes X-linked immunodeficiency with hyper-IgM;Korthäuer;Nature,1993
2. Treatment of CD40 ligand deficiency by hematopoietic stem cell transplantation: a survey of the European experience, 1993-2002;Gennery;Blood,2004
3. Pitfalls of “hyper”-IgM syndrome: a new CD40 ligand mutation in the presence of low IgM levels. A case report and a critical review of the literature;Heinold;Infection,2010
4. Molecular analysis of a large cohort of patients with the hyper immunoglobulin M (IgM) syndrome;Lee;Blood,2005
5. Parvovirus B19-induced anemia as the presenting manifestation of X-linked hyper-IgM syndrome;Seyama;J Infect Dis,1998
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1. CD40 Ligand Deficiency in Latin America: Clinical, Immunological, and Genetic Characteristics;Journal of Clinical Immunology;2022-01-04
2. The effect of mutatio-type on proteo-phenotype and clinico-phenotype in selected primary immunodeficiencies;Immunologic Research;2021-10-07
3. Genetic Analysis of Patients with Two Different Types of Hyper IgM Syndrome;Immunological Investigations;2018-08-06
4. Interstitial lung disease in infancy: an unusual presentation of CD40 ligand deficiency;LymphoSign Journal;2017-06-21
5. A novel disease-causing CD40L mutation reduces expression of CD40 ligand, but preserves CD40 binding capacity;Clinical Immunology;2014-08
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