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HELIOS is an IKAROS-family zinc-finger transcription factor that plays an important role in regulatory T cell function and conventional T cell homoeostasis. HELIOS shares a conserved N-terminal DNA-binding and C-terminal...

BackgroundPyoderma gangrenosum (PG) is a rare ulcerative neutrophilic dermatosis that can be associated with primary immunodeficiencies. Its pathogenesis is incompletely understood, but it has been increasingly reported ...

IntroductionAdenosine deaminase–deficient severe combined immunodeficiency (ADA-SCID) is an autosomal recessive disorder comprising ∼15% of SCID cases. Newborn screening (NBS) relies on T cell receptor excision circl...

IntroductionNewborn screening (NBS) for severe combined immunodeficiency (SCID) leads to early diagnosis and hematopoietic cell transplant (HCT). Limited studies are available on the quality of life (QoL) of SCID patient...

BackgroundDominant-negative (DN) STAT3 defects (STAT3-DN) result in >75% loss of STAT3 function and lead to autosomal-dominant hyper-IgE syndrome (HIES) characterized by severe eczema, recurrent bacterial and fungal infe...

BackgroundCOPA syndrome is a rare autosomal-dominant immune dysregulation disorder caused by pathogenic variants in the COPA gene, typically presenting with autoimmunity, arthritis, and interstitial lung disease. However...