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:C0013362 (
dysarthria
)
3,768
document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)
The
MHC
II deficiency is a rare autosomal recessive primary immunodeficiency syndrome with increased susceptibility to respiratory and gastrointestinal infections, failure to thrive and early mortality. This syndrome is caused by mutations in transcription regulators of the
MHC
II gene and results in development of blind lymphocytes due to the lack of indicatory
MHC
II molecules. Despite homogeneity of clinical manifestations of patients with
MHC
II deficiency, the genetic defects underlying this disease are heterogeneous. Herein, we report an Iranian patient with
MHC
II deficiency harbouring a novel mutation in RFXANK and novel misleading clinical features. He had ataxic gait and
dysarthria
from 30 months of age. Epidemiology, clinical and immunological features, therapeutic options and prognosis of patients with
MHC
II are reviewed in this paper.
...
PMID:MHC class II deficiency: Report of a novel mutation and special review. 2867 32
