X-linked Hyper IgM Syndrome: A Novel Sequence Variant Associated With An Atypical Mild Phenotype
Journal of Pediatric Hematology/Oncology, 06/29/2012
Buchbinder D et al. – The authors 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.