An immunodeficiency disease with RAG mutations and granulomas

被引：177

作者：

Schuetz, Catharina ^{[1
]}

Huck, Kirsten ^{[5
]}

Gudowius, Sonja ^{[5
]}

Megahed, Mosaad ^{[7
]}

Feyen, Oliver ^{[5
]}

Hubner, Bernd ^{[5
]}

Schneider, Dominik T. ^{[5
]}

Manfras, Burkhard ^{[2
]}

Pannicke, Ulrich ^{[3
]}

Willemze, Rein ^{[8
]}

Knuechel, Ruth ^{[6
]}

Goebel, Ulrich ^{[5
]}

Schulz, Ansgar ^{[1
]}

Borkhardt, Arndt ^{[5
]}

Friedrich, Wilhelm ^{[1
]}

Schwarz, Klaus ^{[4
]}

Niehues, Tim ^{[5
]}

机构：

[1] Univ Hosp Ulm, Dept Pediat & Adolescent Med, Ulm, Germany

[2] Univ Hosp Ulm, Dept Internal Med, Ulm, Germany

[3] Univ Hosp Ulm, Inst Transfus Med, Ulm, Germany

[4] Inst Clin Transfus Med & Immunogenet, Ulm, Germany

[5] Univ Dusseldorf, Univ Klinikum Dusseldorf, Childrens Hosp, Dept Pediat Oncol Hematol & Clin Immunol, Dusseldorf, Germany

[6] Univ Hosp Aachen, Dept Pathol, Aachen, Germany

[7] Univ Hosp Aachen, Dept Dermatol, Aachen, Germany

[8] Leiden Univ, Med Ctr, Dept Dermatol, Leiden, Netherlands

来源：

NEW ENGLAND JOURNAL OF MEDICINE | 2008年 / 358卷 / 19期

关键词：

D O I：

10.1056/NEJMoa073966

中图分类号：

R5 [内科学];

学科分类号：

1002 ; 100201 ;

摘要：

We describe three unrelated girls who had an immunodeficiency disease with granulomas in the skin, mucous membranes, and internal organs. All three girls had severe complications after viral infections, including B-cell lymphoma associated with Epstein-Barr virus (EBV). Other findings were hypogammaglobulinemia, a diminished number of T and B cells, and sparse thymic tissue on ultrasonography. Molecular analysis revealed that the patients were compound heterozygotes for mutations in recombination activating gene 1 or 2 (RAG1 or RAG2). In each case, both parents were heterozygous carriers of a RAG mutation. The mutations were associated with reduced function of RAG in vitro (3 to 30% of normal activity). The parents and one sibling in the three families were healthy.

引用

页码：2030 / 2038

页数：9

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