MHC class 2 deficiency and X-linked agammaglobulinaemia in a consanguineous extended family

被引：2

作者：

Broides, A. ^{[1
,6
]}

Shubinsky, G. ^{[2
,5
]}

Parvari, R. ^{[3
,4
,5
]}

Grimbacher, B. ^{[7
]}

Somech, R. ^{[8
,9
]}

Garty, B. Z. ^{[9
,10
]}

Levy, J. ^{[6
]}

机构：

[1] Soroka Univ, Med Ctr, Pediat Immunol Clin, IL-84101 Beer Sheva, Israel

[2] Flow Cytometry Unit, Beer Sheva, Israel

[3] Dept Virol & Dev Genet, Beer Sheva, Israel

[4] Natl Inst Biotechnol Negev, Beer Sheva, Israel

[5] Shraga Segal Dept Microbiol & Immunol, Beer Sheva, Israel

[6] Ben Gurion Univ Negev, Fac Hlth Sci, Beer Sheva, Israel

[7] Royal Free Hosp, Univ Coll London, Dept Immunol & Mol Pathol, London NW3 2QG, England

[8] Safra Childrens Hosp, Chaim Sheba Med Ctr, Tel Hashomer, Israel

[9] Tel Aviv Univ, Sackler Sch Med, IL-69978 Tel Aviv, Israel

[10] Childrens Med Ctr Israel, Dept Pediat B Schneider, Petah Tiqwa, Israel

来源：

INTERNATIONAL JOURNAL OF IMMUNOGENETICS | 2009年 / 36卷 / 04期

关键词：

BRUTONS TYROSINE KINASE; MUTATIONS; GENE; EXPRESSION; BTK;

D O I：

10.1111/j.1744-313X.2009.00847.x

中图分类号：

Q3 [遗传学];

学科分类号：

071007 ; 090102 ;

摘要：

P>Manifestations of immunodeficiency within the same family are presumed to be the same disease. We report a consanguineous extended family where four patients have immunodeficiency, three have X-linked agammaglobulinaemia and one has major histocompatibility complex class 2 deficiency. Within one family, two rare genetic diseases with similar clinical manifestations can occur.

引用

页码：223 / 226

页数：4

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