Gene/Protein
Disease
Symptom
Drug
Enzyme
Compound
Pivot Concepts:
Gene/Protein
Disease
Symptom
Drug
Enzyme
Compound
Target Concepts:
Gene/Protein
Disease
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Drug
Enzyme
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Query: UMLS:C0019621 (
Langerhans cell histiocytosis
)
3,250
document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)
Langerhans' cell histiocytosis
(
LCH
) is a rare disease of unkown cause and is characterized by clonal proliferation of Langerhans cells. Here, we describe the case of a 22-month-old boy with
LCH
associated with X-linked lymphoproliferative disease (XLP). Sequence analysis of
SH2D1A
for mutations that cause T-cell dysfunction revealed a CT substitution at nucleotide 462. This is the first case that hints at an association between XLP and
LCH
.
...
PMID:Langerhans cell histiocytosis, a new clinical phenotype of x-linked lymphoproliferative disease? 2109 4
