Update on X-linked hypogammaglobulinemia with isolated growth hormone deficiency.

Donn M Stewart, Lan Tian, Luigi D Notarangelo, David L Nelson

Metabolism Branch, Center for Cancer Research, National Cancer Institute, National Institutes of Health, Bethesda, Maryland 20892, USA, and Department of Pediatrics, University of Brescia, Italy.

Current opinion in allergy and clinical immunology 2005 Dec

filter terms:

To provide an update on the syndrome X-linked hypogammaglobulinemia with isolated growth hormone deficiency, focusing on the pedigree described originally. An additional case of X-linked hypogammaglobulinemia with isolated growth hormone deficiency and an unaffected male have been born to a female carrier in the family, allowing improved disease locus mapping. Unpublished research has identified a mutation in the transcription factor myeloid elf-1-like factor that may be the cause of the disease. X-linked hypogammaglobulinemia with isolated growth hormone deficiency is not caused by Bruton's tyrosine kinase mutations in the family described originally, but may be due to a mutation in myeloid elf-1-like factor.

Citation

Donn M Stewart, Lan Tian, Luigi D Notarangelo, David L Nelson. Update on X-linked hypogammaglobulinemia with isolated growth hormone deficiency. Current opinion in allergy and clinical immunology. 2005 Dec;5(6):510-2