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

Immunol Res. 2008;40(3):262-70. doi: 10.1007/s12026-007-0028-9.

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.

Publication types

  • Review

MeSH terms

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

Substances

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