Haemophagocytic lymphohistiocytosis in X-linked severe combined immunodeficiency

被引：25

作者：

Grunebaum, E ^{[1
]}

Zhang, J ^{[1
]}

Dadi, H ^{[1
]}

Roifman, CM ^{[1
]}

机构：

[1] Hosp Sick Children, Res Inst, Infect Immun Injury & Repair Program, Dept Paediat,Div Immunol Allergy, Toronto, ON M5G 1X8, Canada

来源：

BRITISH JOURNAL OF HAEMATOLOGY | 2000年 / 108卷 / 04期

关键词：

haemophagocytic lymphohistiocytosis; natural killer cells; severe combined immune deficiency; IL-2 receptor gamma; gamma common chain;

D O I：

10.1046/j.1365-2141.2000.01923.x

中图分类号：

R5 [内科学];

学科分类号：

1002 ; 100201 ;

摘要：

Haemophagocytic lymphohistiocytosis (HLH) is characterized by destruction of haematopoietic elements, and is associated with a variety of manifestations including immune abnormalities. We describe an infant with HLH who had no evidence of infection or malignancy, He had markedly reduced natural killer (NK) and T-cell numbers and mitogen responses, consistent with severe combined immune deficiency, Western blot and now cytometry analyses revealed an absence of interleukin (IL)-2 receptor gamma (gamma common) chain expression and a transition (C --> T) at nucleotide 684 in the gamma common gene. This novel case highlights the need for a thorough evaluation of immunological phenotype and genotype in patients with HLH.

引用

页码：834 / 837

页数：4

共 14 条

[1] NATURAL CYTO-TOXICITY IMPAIRMENT IN FAMILIAL HEMOPHAGOCYTIC LYMPHOHISTIOCYTOSIS [J].