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, NCI, NIH, National Institutes of Health, Bldg. 10, Rm. 4N115, MSC 1374, Bethesda, MD 20892, USA.
Tian
Lan
L
Notarangelo
Luigi D
LD
Nelson
David L
DL
D000361:Agammaglobulinemia / Q000150:complications / Q000175:diagnosis* / Q000235:genetics; D002169:Campylobacter Infections / Q000276:immunology / Q000382:microbiology; D016123:Campylobacter jejuni / Q000302:isolation & purification; D004268:DNA-Binding Proteins / Q000235:genetics*; D004393:Dwarfism, Pituitary / Q000150:complications / Q000175:diagnosis* / Q000235:genetics; D005260:Female; D040181:Genetic Diseases, X-Linked / Q000150:complications / Q000175:diagnosis* / Q000235:genetics; D006801:Humans; D007153:Immunologic Deficiency Syndromes / Q000150:complications / Q000175:diagnosis* / Q000235:genetics; D008297:Male; D010375:Pedigree; D013577:Syndrome; D014157:Transcription Factors / Q000235:genetics*
D004268:DNA-Binding Proteins; C111931:ELF4 protein, human; D014157:Transcription Factors