Immune dysregulation syndrome caused by / 中国当代儿科杂志
Chinese Journal of Contemporary Pediatrics
;
(12): 397-401, 2021.
Article
in Chinese
| WPRIM
| ID: wpr-879866
ABSTRACT
A boy, aged 4 years and 6 months, had disease onset of fever, cough, pale complexion, and weakness, with hepatosplenomegaly, lymphadenectasis, and pancytopenia. He had been having repeated respiratory and digestive tract infections. Gene detection showed a pathogenic heterozygous mutation, c.C2147 > T(p.T716M), in the
Full text:
Available
Index:
WPRIM (Western Pacific)
Main subject:
Syndrome
/
STAT3 Transcription Factor
/
Fever
/
Heterozygote
/
Immune System Diseases
/
Mutation
Limits:
Child, preschool
/
Humans
/
Male
Language:
Chinese
Journal:
Chinese Journal of Contemporary Pediatrics
Year:
2021
Type:
Article
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