Article

Recurrent Oral Aphtha, Diarrhea, Pneumonia, And Respiratory Distress Since Infancy: STAT1 GOF defect

2022-07-11

Abstract excerpt

Abstract Backgrounds: Mutations in DNA-binding domains of STAT1 lead to delayed STAT1 dephosphorylation and afterwards gain-of-function. The clinical phenotype is broad and can include chronic mucocutaneous candidiasis and/or combined immunodeficiency. <h4>Objectives:</h4> We report a case of 7-year old female patient. She had recurrent pneumonia since infancy and she was hospitalized several times. She had persis...

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Literature Corpus work: 25bb6922-7ac9-5ed6-9c13-ee8870af5b43
DOI: 10.22541/au.160406480.03760699/v2

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