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  • Title: Update on X-linked hypogammaglobulinemia with isolated growth hormone deficiency.
    Author: Stewart DM, Tian L, Notarangelo LD, Nelson DL.
    Journal: Curr Opin Allergy Clin Immunol; 2005 Dec; 5(6):510-2. PubMed ID: 16264330.
    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 Unpublished research has identified a mutation in the transcription factor myeloid elf-1-like factor that may be the cause of the disease.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.
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