Intronic SH2D1A mutation with impaired SAP expression and agammaglobulinemia

被引：5

作者：

Recher, Mike ^{[1
,2
,3
,4
]}

Fried, Ari J. ^{[1
,2
]}

Massaad, Michel J. ^{[1
,2
]}

Kim, Hye Young ^{[1
,2
]}

Rizzini, Michela ^{[5
,6
]}

Frugoni, Francesco ^{[1
,2
]}

Walter, Jolan E. ^{[1
,2
,8
]}

Mathew, Divij ^{[1
,2
]}

Eibel, Hermann ^{[7
]}

Hess, Christoph ^{[3
,4
]}

Giliani, Silvia ^{[5
,6
]}

Umetsu, Dale T. ^{[1
,2
]}

Notarangelo, Luigi D. ^{[1
,2
,9
]}

Geha, Raif S. ^{[1
,2
]}

机构：

[1] Harvard Univ, Childrens Hosp, Sch Med, Div Immunol, Boston, MA 02115 USA

[2] Harvard Univ, Sch Med, Dept Pediat, Boston, MA 02115 USA

[3] Univ Basel Hosp, Med Outpatient Div, Clin Primary Immunodeficiencies, CH-4031 Basel, Switzerland

[4] Univ Basel Hosp, Dept Biomed, Immunobiol Lab, CH-4031 Basel, Switzerland

[5] Univ Brescia, Spedali Civili, Lab Genet Disorders Childhood, A Nocivelli Inst Mol Med, Brescia, Italy

[6] Univ Brescia, Pediat Clin, Brescia, Italy

[7] Univ Med Ctr, Ctr Chron Immunodeficiency, Freiburg, Germany

[8] Massachusetts Gen Hosp Children, Boston, MA USA

[9] Childrens Hosp, Manton Ctr Orphan Dis Res, Boston, MA 02115 USA

来源：

CLINICAL IMMUNOLOGY | 2013年 / 146卷 / 02期

基金：

瑞士国家科学基金会;

关键词：

SAP; X-linked lymphoproliferative disease; agammaglobulinemia; EBV; B cells; LINKED LYMPHOPROLIFERATIVE DISEASE; BARR-VIRUS INFECTION; HUMORAL IMMUNITY; T-CELLS; GENE; XLP; DEFICIENT; MICE;

D O I：

10.1016/j.clim.2012.11.007

中图分类号：

R392 [医学免疫学]; Q939.91 [免疫学];

学科分类号：

100102 ;

摘要：

X-linked lymphoproliferative (XLP) disease is a primary immunodeficiency syndrome associated with the inability to control Epstein-Barr virus (EBV), lymphoma, and hypogammaglobulinemia. XLP is caused by mutations in the SH2D1A gene, which encodes the SLAM-associated protein (SAP), or in the BIRC4 gene, which encodes the X-linked inhibitor of apoptosis protein (XIAP). Here we report a patient with recurrent respiratory tract infections and early onset agammaglobulinemia who carried a unique disease-causing intronic loss-of-function mutation in SH2D1A. The intronic mutation affected SH2D1A gene transcription but not mRNA splicing, and led to markedly reduced level of SAP protein. Despite undetectable serum immunoglobulins, the patient's B cells replicated and differentiated into antibody producing cells normally in vitro. (c) 2013 Elsevier Inc. All rights reserved.

引用

页码：84 / 89

页数：6

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