Rare Diseases Symptoms Automatic Extraction

KIT masters mast cells in kids, too.

[cutaneous mastocytosis]

Adult mastocytosis is usually persistent and caused by c-KIT codon 816-activating mutations. Pediatric mastocytosis is often transient, and the molecular mechanism driving mast cell proliferation in pediatric cases remains unclear. In this issue, Bodemer et al. report novel c-KIT mutations in a large percentage of pediatric cases, identifying both similarities and fundamental differences in the mechanisms causing adult and pediatric mastocytosis.

Diseases presenting "large percentage" symptom

  • aniridia
  • aromatase deficiency
  • cutaneous mastocytosis
  • inclusion body myositis
  • oculocutaneous albinism

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