当前位置： SCI文献检索 > SCANDINAVIAN JOURNAL OF IMMUNOLOGY期刊下所有文献 > Combined IL-12 receptor and IgA deficiency in an adult man intestinally infested by an unknown, non-cultivable mycobacterium.

Combined IL-12 receptor and IgA deficiency in an adult man intestinally infested by an unknown, non-cultivable mycobacterium.

Abstract：

:Interleukin-12 receptor deficiency is a well-described cause of human susceptibility to infection with low-virulent mycobacteria and Salmonella species. We identified a male patient presenting in his late forties with severe gastroenteropathy because of outbred infestation by a previously unknown mycobacterium. In addition to selective IgA deficiency, the patient was found to carry a not previously described R283X homozygous mutation in his IL12RΒ1 gene. Two of his sisters, a brother, and his four children were healthy, heterozygous carriers of the mutation. In this patient, the combination of two deficiencies could promote illness. Even though the IgA deficiency in itself does not predispose to mycobacterial disease, the lack of secreted IgA may have disturbed the intestinal homoeostasis and increased the susceptibility to the low-virulent mycobacterium that the patient was not able to clear because of his IL12R deficiency. Antimycobacterial chemotherapy and interferon-γ treatment for 2 years significantly improved his condition. This is the first description of IL12RΒ1 deficiency combined with another immunodeficiency, and we suggest that combinatory defects may circumvent the otherwise low penetrance of IL12RB1 deficiency.

journal_name

Scand J Immunol

journal_title

Scandinavian journal of immunology

authors

Schejbel L,Rasmussen EM,Kemp HB,Lundstedt AC,Nielsen KR,Obel N,Marquart H,Andersen AB

doi

10.1111/j.1365-3083.2011.02603.x

subject

Has Abstract

pub_date

2011-12-01 00:00:00

pages

548-53

issue

6

eissn

0300-9475

issn

1365-3083

journal_volume

74

pub_type

杂志文章

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