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: UMLS:C0042109 (
urticaria
)
6,569
document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)
Wiskott-Aldrich syndrome
(
WAS
) is an X-linked recessive primary immunodeficiency disorder caused by mutations in the gene encoding the
WAS protein
(
WASP
). Classic
WAS
is characterized by thrombocytopenia with small-sized platelets, recurrent infections, eczema and increased susceptibility to autoimmune diseases and haematologic malignancies. Here, we reported on seven unrelated Thai individuals with classic
WAS
. In addition to clinical and immunologic characterization, mutation analysis by PCR-sequencing the entire coding region of
WASP
was performed. Recurrent and novel mutations were successfully identified. A nonsense mutation, the c.55C>T (p.Q19X), has not been previously described, expanding the mutational spectrum of
WASP
. The patient with this newly described mutation developed cow's milk allergy manifesting as angioedema and
urticaria
and had cytomegalovirus infection that was successfully treated with long-term ganciclovir. This study reported long-term follow-up of seven patients with molecular confirmation of
WAS
and infrequent features in the patient with classic
WAS
carrying the novel nonsense mutation.
...
PMID:Clinical and molecular characterization of Thai patients with Wiskott-Aldrich syndrome. 2303 89
