X-linked immune dysregulation, neonatal insulin dependent diabetes, and intractable diarrhoea.
Four related male infants presented with neonatal diabetes mellitus, immune dysregulation with extremely high concentrations of immunoglobulin E, and intractable diarrhoea. They were all from one family, and all of them died. As far as is known this X-linked recessive disorder has not been described before. It is suggested that this is a new immunodeficiency in which type 2 T helper responses predominate.
Peake
J E
JE
Royal Children's Hospital, Queensland, Australia.
McCrossin
R B
RB
Byrne
G
G
Shepherd
R
R
D003922:Diabetes Mellitus, Type 1 / Q000235:genetics* / Q000276:immunology / Q000473:pathology; D003968:Diarrhea, Infantile / Q000235:genetics* / Q000276:immunology / Q000473:pathology; D017809:Fatal Outcome; D008040:Genetic Linkage; D006801:Humans; D006942:Hypergammaglobulinemia / Q000235:genetics* / Q000276:immunology / Q000473:pathology; D007073:Immunoglobulin E / Q000097:blood*; D007231:Infant, Newborn; D008297:Male; D010375:Pedigree; D014960:X Chromosome / Q000235:genetics*
D007073:Immunoglobulin E