Novel STAT3 gain-of-function variant with hypogammaglobulinemia and
recurrent infection phenotype
Abstract
Signal transducer and activator of transcription 3 (STAT3)
gain-of-function (GOF) syndrome is an early-onset monogenic inborn error
of immunity characterized by multi-organ autoimmune disorders, growth
failure and lymphoproliferation. We describe that STAT3 GOF syndrome may
be presented with hypogammaglobulinemia and recurrent severe upper and
lower respiratory tract infections. The patient we present here did not
have multi-organ autoimmunity and lacked early-onset autoimmune
manifestations. Chest CT examinations showed mild bronchiectasis with
areas of non-fibrosing alveolar-interstitial disease and maldevelopment
of bilateral first ribs. By using Sanger sequencing, we revealed a novel
c.508G>C, p.D170H STAT3 variant affecting the coiled coil
domain (CCD) of STAT3. Functional studies confirmed that p.D170H was a
GOF variant as showed by increased pSTAT3 and STAT3 transcriptional
activity. Our observation suggests that STAT3 GOF syndrome can manifest
in early childhood with hypogammaglobulinemia and recurrent severe
respiratory tract infections and may lack autoimmune manifestations. We
suggest that patients with hypogammaglobulinemia and severe, recurrent
infections should be screened for STAT3 variants even if autoimmune
manifestations are missing.