The JAK/STAT signaling pathway plays a key role in cytokine signaling and is involved in
development, immunity, and tumorigenesis for nearly any cell. At first glance, the JAK/STAT …

STAT3 gain-of-function (GOF) syndrome is a multi-organ primary immune regulatory
disorder characterized by early onset autoimmunity. Patients present early in life, most …

Background In 2014, germline signal transducer and activator of transcription (STAT) 3 gain-
of-function (GOF) mutations were first described to cause a novel multisystem disease of …

Autoimmune lymphoproliferative syndrome (ALPS) is a primary immune regulatory disorder
characterized by benign or malignant lymphoproliferation and autoimmunity. Classically …

Signal transducer and activator of transcription 3 (STAT3) is a key transcription factor
involved in regulation of immune cell activation and differentiation. Recent discoveries …

Inborn errors of immunity (IEI) are genetic disorders characterized by a wide spectrum of
clinical manifestations, ranging from increased susceptibility to infections to significant …

The signal transducer and activator of transcription (STAT) 3 is the most ubiquitous member
of the STAT family and fulfills fundamental functions in immune and non-immune cells …

CD25, Signal transducer and activator of transcription 5B (STAT5B) and Forkhead box P3
(FOXP3) are critical mediators of Interleukin-2 (IL-2) signaling pathway in regulatory T cells …

STAT3 mutations, predominantly in the DNA-binding domain (DBD) and Src-homology 2
domain (SH2D), cause rare cases of immunodeficiency, malignancy, and autoimmunity. The …

Background Combined immune deficiencies (CIDs) with associated or syndromic features
are a highly heterogeneous subgroup of inherited immune disorders. These patients …