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


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 Unpublished research has identified a mutation in the transcription factor myeloid elf-1-like factor that may be the cause of the disease.


CONCLUSIONS
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.
Stewart
Donn M
DM
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.
Tian
Lan
L
Notarangelo
Luigi D
LD
Nelson
David L
DL
D000361:Agammaglobulinemia / Q000235:genetics*; D041321:Chromosomes, Human, X; D004268:DNA-Binding Proteins / Q000235:genetics; D005260:Female; D013006:Growth Hormone / Q000172:deficiency*; D006801:Humans; D008297:Male; D009154:Mutation; D010375:Pedigree; D014157:Transcription Factors / Q000235:genetics
D004268:DNA-Binding Proteins; D014157:Transcription Factors; D013006:Growth Hormone