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Recurrent Oral Aphtha, Diarrhea, Pneumonia, And Respiratory Distress Since Infancy: STAT1 GOF defect
  • +3
  • ali cem kucukdagli,
  • Elif Soyak Aytekin,
  • Çagman Tan,
  • Deniz Cagdas Ayvaz,
  • Nural Kiper,
  • Ilhan Tezcan
ali cem kucukdagli
Hacettepe University Faculty of Medicine
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Elif Soyak Aytekin
Hacettepe University Faculty of Medicine
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Çagman Tan
Hacettepe University
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Deniz Cagdas Ayvaz
Hacettepe University
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Nural Kiper
Hacettepe University, Medical School
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Ilhan Tezcan
Hacettepe University School of Medicine
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Abstract

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. Objectives: We report a case of 7-year old female patient. She had recurrent pneumonia since infancy and she was hospitalized several times. She had persistant lymphopenia with normal immunoglobulin levels and lymphocyte subsets. Findings: STAT1 mutation was defined by next generation Sequencing PID panel. Despite the antifungal therapy, oxygen requirement continued, methylprednisolone and Janus-associated kinase (JAK) inhibitor (ruxolitinib) was started as therapy. Immunodysregulatory features of disease improved after Janus kinase inhibitor treatment. Conclusion: In patients with STAT1 GOF defect, ruxolitinib treatment may be effective for interstitial lung disease if hematopoietic stem cell transplantation can not be performed.