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Two patients with complete defects in interferon gamma receptor-dependent signaling.

Abstract：

: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-Guérin 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.

journal_name

J Clin Immunol

journal_title

Journal of clinical immunology

authors

Noordzij JG,Hartwig NG,Verreck FA,De Bruin-Versteeg S,De Boer T,Van Dissel JT,De Groot R,Ottenhoff TH,Van Dongen JJ

doi

10.1007/s10875-007-9097-8

subject

Has Abstract

pub_date

2007-09-01 00:00:00

pages

490-6

issue

5

eissn

0271-9142

issn

1573-2592

journal_volume

27

pub_type

杂志文章

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