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Items: 2

1.

ISLETS OF LANGERHANS, ABSENCE OF

MedGen UID:
334998
Concept ID:
C1844663
Finding
2.

Insulin-dependent diabetes mellitus secretory diarrhea syndrome

IPEX (Immune dysregulation, Polyendocrinopathy, Enteropathy, X-linked) syndrome is characterized by systemic autoimmunity, typically beginning in the first year of life. Presentation is most commonly the clinical triad of watery diarrhea, eczematous dermatitis, and endocrinopathy (most commonly insulin-dependent diabetes mellitus). Most children have other autoimmune phenomena including Coombs-positive anemia, autoimmune thrombocytopenia, autoimmune neutropenia, and tubular nephropathy. Without aggressive immunosuppression or bone marrow transplantation, the majority of affected males die within the first one to two years of life from metabolic derangements or sepsis; a few with a milder phenotype have survived into the second or third decade of life. [from GeneReviews]

MedGen UID:
83339
Concept ID:
C0342288
Disease or Syndrome

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