Gene/Protein
Disease
Symptom
Drug
Enzyme
Compound
Pivot Concepts:
Gene/Protein
Disease
Symptom
Drug
Enzyme
Compound
Target Concepts:
Gene/Protein
Disease
Symptom
Drug
Enzyme
Compound
Query: UNIPROT:P15088 (
mast cell
)
14,925
document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)
Systemic mastocytosis is a clonal disorder of the
mast cell
and its progenitor cell. It is a rare disorder with unknown incidence in Greece, with an estimate of 2 cases per year in Great Britain. We present a case of an asymptomatic, 72-year-old man who was found to have
ileocolitis
on endoscopy. Histology revealed mast cells in lamina propria >15 HPF and biochemistry showed high levels of serum total tryptase. Molecular testing was positive for the mutation Asp816Val in exon 17 of
c-kit gene
. The patient met one major and two minor criteria for the diagnosis of systemic indolent mastocytosis (according to WHO classification). He has been treated prophylactically with H
1
- and H
2
-histamine receptor antagonists and remains asymptomatic.
...
PMID:Indolent systemic mastocytosis in a patient with ileocolitis. 2497 49
