Int Arch Allergy Immunol  1997 May-Jul;113(1-3):184-6 

c-kit mutation in a population of patients with mastocytosis.

Nagata H, Okada T, Worobec AS, Semere T, Metcalfe DD.

Department of Otolaryngology, Chiba University School of Medicine, Japan.

The c-kit Asp816Val activating mutation is found in all patients with
mastocytosis with an associated hematologic disorder, and at least in a subset
of patients with indolent mastocytosis. The case of an 11-month-old child is
presented who was categorized as having indolent mastocytosis, and where the
Asp816Val mutation was identified in lesional skin, but not in bone marrow or in
peripheral blood mononuclear cell populations. The significance of these
findings is discussed.

PMID: 9130517 [PubMed - indexed for MEDLINE]