Two patients with complete defects in interferon gamma receptor-dependent signaling.
until further notice
SourceJournal of Clinical Immunology, 27, 5, (2007), pp. 490-6
Article / Letter to editor
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Paediatrics - OUD tm 2017
Journal of Clinical Immunology
SubjectN4i 1: Pathogenesis and modulation of inflammation; N4i 3: Poverty-related infectious diseases; N4i 4: Auto-immunity, transplantation and immunotherapy; NCMLS 1: Immunity, infection and tissue repair; UMCN 1.4: Immunotherapy, gene therapy and transplantation; UMCN 4.1: Microbial pathogenesis and host defense
Unusual susceptibility to mycobacterial infections can be caused by deleterious mutations in genes that encode the interferon-gamma receptor 1 chain. Such mutations hamper the activation of macrophages by a type 1 immune response and result in enhanced survival of intracellular pathogens. We here report two patients with unusual mycobacterial infections, both diagnosed with homozygous deleterious interferon-gamma receptor 1 gene mutations. Patient 1 became ill after Bacillus Calmette-Guerin vaccination at the age of 9 months and died at the age of 18 months. She carried a homozygous C71Y mutation in the extracellular part of the mature interferon-gamma receptor 1 protein, resulting in the lack of detectable protein expression and absence of interferon-gamma dependent signaling. Patient 2 became ill at the age of 3 years, is still alive at 19 years of age, and has suffered from five successive infection episodes with atypical mycobacteria. A homozygous splice-site mutation in intron 3 was identified, resulting in the deletion of exon 3 at the mRNA level and consequently a truncated interferon-gamma receptor 1 protein with absence of the transmembrane domain. Protein expression and interferon-gamma dependent signaling were not detectable.
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