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

Immunol Res. 2007;38(1-3):391-9. doi: 10.1007/s12026-007-0052-9.

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 / complications
  • Agammaglobulinemia / diagnosis*
  • Agammaglobulinemia / genetics
  • Campylobacter Infections / immunology
  • Campylobacter Infections / microbiology
  • Campylobacter jejuni / isolation & purification
  • DNA-Binding Proteins / genetics*
  • Dwarfism, Pituitary / complications
  • Dwarfism, Pituitary / diagnosis*
  • Dwarfism, Pituitary / genetics
  • Female
  • Genetic Diseases, X-Linked / complications
  • Genetic Diseases, X-Linked / diagnosis*
  • Genetic Diseases, X-Linked / genetics
  • Humans
  • Immunologic Deficiency Syndromes / complications
  • Immunologic Deficiency Syndromes / diagnosis*
  • Immunologic Deficiency Syndromes / genetics
  • Male
  • Pedigree
  • Syndrome
  • Transcription Factors / genetics*

Substances

  • DNA-Binding Proteins
  • ELF4 protein, human
  • Transcription Factors