X-linked Hyper IgM Syndrome: A Novel Sequence Variant Associated With An Atypical Mild Phenotype

被引:3
作者
Buchbinder, David [1 ]
Park, Sang [1 ]
Nugent, Diane [1 ]
机构
[1] CHOC Childrens Hosp, Div Hematol, Orange, CA 92868 USA
关键词
primary immune deficiency; chronic neutropenia; CD40; ligand; CD40; LIGAND; NEUTROPENIA; MUTATIONS; EXPRESSION; GENE;
D O I
10.1097/MPH.0b013e318241fa1b
中图分类号
R73 [肿瘤学];
学科分类号
100214 ;
摘要
X-linked hyper IgM syndrome is associated with abnormalities in the gene encoding CD40 ligand (CD40LG). A typical phenotype evolves during infancy in affected males. This phenotype includes neutropenia, dysgammaglobulinemia, bacterial sinopulmonary infections, and opportunistic infections. In the absence of the typical phenotypic features, clinicians must maintain a high level of suspicion for X-linked hyper IgM syndrome. We describe a unique hemizygous CD40LG mutation which was discovered in a 12-year-old boy with chronic severe neutropenia, a normal IgG level, and absence of sinopulmonary or opportunistic infections. The clinical implications of this mutation and associated atypical phenotype are discussed.
引用
收藏
页码:E212 / E214
页数:3
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