X-linked hypogammaglobulinemia and isolated growth hormone deficiency: an update.
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.
Stewart
Donn M
DM
Immunophysiology Section, Metabolism Branch, CCR, NCI, National Institute of Health, Bldg. 10, Bethesda, MD 20892, USA.
Tian
Lan
L
Notarangelo
Luigi D
LD
Nelson
David L
DL
D000361:Agammaglobulinemia / Q000235:genetics / Q000276:immunology / Q000503:physiopathology; D041321:Chromosomes, Human, X; D004268:DNA-Binding Proteins / Q000235:genetics* / Q000378:metabolism; D005260:Female; D040181:Genetic Diseases, X-Linked / Q000235:genetics / Q000276:immunology / Q000503:physiopathology; D019382:Human Growth Hormone / Q000172:deficiency* / Q000276:immunology; D006801:Humans; D008297:Male; D009154:Mutation; D010375:Pedigree; D014157:Transcription Factors / Q000235:genetics* / Q000378:metabolism
D004268:DNA-Binding Proteins; C111931:ELF4 protein, human; D014157:Transcription Factors; D019382:Human Growth Hormone