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NEONATAL DIABETES MELLITUS, ENTEROPATHY, THROMBOCYTOPENIA AND ENDOCRINOPATHY (IPEX)

NEONATAL DIABETES MELLITUS, ENTEROPATHY, THROMBOCYTOPENIA AND ENDOCRINOPATHY (IPEX)
IMMUNODYSREGULATION, POLYENDOCRINOPATHY, AND ENTEROPATHY, X-LINKED
304790
OMIM = Online Mendelian Inheritance of Men
37042
Forkhead box protein P3
Xp11.23
E31.0
rare
X-linked recessive
mutation in the FOXP3 gene
Laboratory findings    Immunglobulin IgE inc (serum)
    Thrombocytes, Platelets dec (blood)
Symptoms    anemia
    diarrhea
    early death
    enteropathy, protein-loosing
    eosinophilia
    hyperglycemia
    ileus
    infections (respiratory tract/system)
    infections (severe or recurrent)
    neutropenia (decreased neutrophils)
    onset, infancy
    onset, neonatal
    skin rash, eczematous or seborrhoic
    thrombopenia, thrombocytopenia