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

作者：Buchbinder David^*; Park Sang; Nugent Diane

来源：Journal of Pediatric Hematology/Oncology, 2012, 34(5): E212-E214.

DOI：10.1097/MPH.0b013e318241fa1b

• primary immune deficiency
• chronic neutropenia
• CD40 ligand

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.

• 出版日期2012-7