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 Unpublished research has identified a mutation in the transcription factor myeloid elf-1-like factor that may be the cause of the disease.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

Stewart DM,Tian L,Notarangelo LD,Nelson DL

doi

10.1097/01.all.0000191235.35879.29

keywords:

subject

Has Abstract

pub_date

2005-12-01 00:00:00

pages

510-2

issue

6

eissn

1528-4050

issn

1473-6322

pii

00130832-200512000-00006

journal_volume

5

pub_type

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