X-linked hypogammaglobulinemia and isolated growth hormone deficiency: an update.

Abstract

X-linked hypogammaglobulinemia and isolated growth hormone deficiency (XLH-GHD, OMIM # 307200) is a primary immunodeficiency disorder characterized by pan-hypogammaglobulinemia and isolated growth hormone deficiency. The disease, which is only known to occur in a single family, shares many features with X-linked agammaglobulinemia (XLA, OMIM # 300300). The current review summarizes the clinical, laboratory, and genetic features of the disease as they have unfolded over the past quarter-century since its description.

• Authors: Donn M Stewart, Lan Tian, Luigi D Notarangelo, David L Nelson
• Journal: Immunologic research (Immunol Res) Vol. 40 Issue 3 Pg. 262-70 ( 2008) ISSN: 0257-277X [Print] United States
• PMID: 18180883 (Publication Type: Journal Article, Review)

Chemical References

• DNA-Binding Proteins
• ELF4 protein, human
• Transcription Factors
• Human Growth Hormone

Topics

• Agammaglobulinemia (genetics, immunology, physiopathology)
• Chromosomes, Human, X
• DNA-Binding Proteins (genetics, metabolism)
• Female
• Genetic Diseases, X-Linked (genetics, immunology, physiopathology)
• Human Growth Hormone (deficiency, immunology)
• Humans
• Male
• Mutation
• Pedigree
• Transcription Factors (genetics, metabolism)