The clinical spectrum of patients with deficiency of Signal Transducer and Activator of Transcription-1.
STAT-1 (Signal Transducer and Activator of Transcription-1) is a key signaling component of interferon gamma responses. We present long-term manifestations in siblings with a mutation in the STAT1 gene, which include invasive salmonellosis, recurrent severe respiratory syncytial virus pneumonitis, and hepatosplenic mycobacterial disease, and we summarize all other reported cases with STAT-1 deficiency.
Averbuch
Diana
D
Department of Pediatrics, Hadassah-Hebrew University Medical Center, Ein-Kerem, Jerusalem, Israel.
Chapgier
Ariane
A
Boisson-Dupuis
Stéphanie
S
Casanova
Jean-Laurent
JL
Engelhard
Dan
D
D000293:Adolescent; D005260:Female; D006801:Humans; D008297:Male; D011014:Pneumonia / Q000276:immunology / Q000473:pathology / Q000821:virology; D018357:Respiratory Syncytial Virus Infections / Q000276:immunology* / Q000473:pathology; D050794:STAT1 Transcription Factor / Q000172:deficiency*; D012480:Salmonella Infections / Q000276:immunology* / Q000473:pathology; D035781:Siblings; D014386:Tuberculosis, Hepatic / Q000276:immunology* / Q000473:pathology; D014400:Tuberculosis, Splenic / Q000276:immunology* / Q000473:pathology
D050794:STAT1 Transcription Factor