Literature DB >> 8777684

X-linked immune dysregulation, neonatal insulin dependent diabetes, and intractable diarrhoea.

J E Peake1, R B McCrossin, G Byrne, R Shepherd.   

Abstract

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.

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Year:  1996        PMID: 8777684      PMCID: PMC2528343          DOI: 10.1136/fn.74.3.f195

Source DB:  PubMed          Journal:  Arch Dis Child Fetal Neonatal Ed        ISSN: 1359-2998            Impact factor:   5.747


  16 in total

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6.  Late-onset of immunodysregulation, polyendocrinopathy, enteropathy, x-linked syndrome (IPEX) with intractable diarrhea.

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  10 in total

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