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

Abstract

PURPOSE OF REVIEW:

To provide an update on the syndrome X-linked hypogammaglobulinemia with isolated growth hormone deficiency, focusing on the pedigree described originally.

RECENT FINDINGS:

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 Unpublished research has identified a mutation in the transcription factor myeloid elf-1-like factor that may be the cause of the disease.

SUMMARY:

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.

• Authors: Donn M Stewart, Lan Tian, Luigi D Notarangelo, David L Nelson
• Journal: Current opinion in allergy and clinical immunology (Curr Opin Allergy Clin Immunol) Vol. 5 Issue 6 Pg. 510-2 (Dec 2005) ISSN: 1528-4050 [Print] United States
• PMID: 16264330 (Publication Type: Case Reports, Journal Article, Review)

Chemical References

• DNA-Binding Proteins
• Transcription Factors
• Growth Hormone

Topics

• Agammaglobulinemia (genetics)
• Chromosomes, Human, X
• DNA-Binding Proteins (genetics)
• Female
• Growth Hormone (deficiency)
• Humans
• Male
• Mutation
• Pedigree
• Transcription Factors (genetics)