A boy with X-linked hyper-IgM syndrome and natural killer cell deficiency
نویسندگان
چکیده
منابع مشابه
A novel mutation in the CD40 ligand gene in a Chinese boy with X-linked hyper-IgM syndrome.
X-linked hyper-IgM Syndrome (XHIGM) is caused by a mutation of CD40 ligand (CD40L), which is normally expressed on activated CD4+ T cells and is responsible for immunoglobulin class switching. A 7-year-old boy with recurrent sino-pulmonary infections since the age of 3 months had normal CD3+, CD4+, CD8+T lymphocytes, and CD19+B lymphocytes and NK cells, but significantly elevated IgM and extrem...
متن کاملDeficient natural killer cell activity in x-linked lymphoproliferative syndrome.
The activity of natural killer cells was found to be deficient in 10 of 12 males with X-linked lymphoproliferative syndrome, a life-threatening proliferation of lymphocytes after infection by Epstein-Barr virus. The activity levels of natural killer cells from affected males were increased after treatment with interferon in vitro, but normal levels of killing were not obtained. Deficient activi...
متن کاملDefects of T-cell effector function and post-thymic maturation in X-linked hyper-IgM syndrome.
X-linked hyper-IgM syndrome (XHIM) results from mutations in the gene encoding for CD40 ligand (CD154). Patients with the syndrome suffer from infections with opportunistic pathogens such as Cryptosporidium and Pneumocystis carinii. In this study, we demonstrate that activated T cells from patients with XHIM produce markedly reduced levels of IFN-gamma, fail to induce antigen-presenting cells t...
متن کاملX-linked hyper-IgM syndrome with eosinophilia in a male child: A case report
The hyper-IgM syndromes (HIGMs) are a group of primary immune deficiency diseases characterized by a normal or elevated serum level of IgM and low or absent serum levels of IgG, IgA and IgE. Here, we report a case of X-linked HIGM with a new CD40L gene mutation presenting with eosinophilia. The patient experienced recurrent pneumonia and acute respiratory distress syndrome (ARDS) from 4 months ...
متن کاملA delayed diagnosis of X-linked hyper IgM syndrome complicated with toxoplasmic encephalitis in a child
INTRODUCTION The X-linked hyper-immunoglobulin M syndrome (XHIGM) is an uncommon primary combined immunodeficiency disease caused by CD40L gene mutations. A delayed or missed diagnosis of XHIGM is common and concerning, owing to atypical immunoglobulin profile and phenotype of some patients, low recognition, and limited knowledge of clinicians on XHIGM in some underdeveloped areas. Opportunisti...
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ژورنال
عنوان ژورنال: Clinical & Experimental Immunology
سال: 1997
ISSN: 0009-9104
DOI: 10.1111/j.1365-2249.1997.284-ce1174.x