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