CD28 and CTLA-4 are members of a family of immunoglobulin-related receptors that are
responsible for various aspects of T-cell immune regulation. The family includes CD28 …

Primary immunodeficiencies (PID) are disorders that for the most part result from mutations
in genes involved in immune host defense and immunoregulation. These conditions are …

Background Cytotoxic T-lymphocyte antigen 4 (CTLA-4) is a negative immune regulator.
Heterozygous CTLA4 germline mutations can cause a complex immune dysregulation …

The immune response consists of a finely-tuned program, the activation of which must be
coupled with inhibitory mechanisms whenever initiated. This ensures tight control of …

Using whole-exome sequencing to examine the genetic causes of immune deficiency in 235
common variable immunodeficiency (CVID) patients seen in the United States (Mount Sinai …

Background Signal transducer and activator of transcription 3 (STAT3) gain-of-function
(GOF) germline mutations have been recently described. A comprehensive overview of this …

Common variable immunodeficiency (CVID) is a heterogeneous disorder characterized by
hypogammaglobulinemia and increased susceptibility to recurrent bacterial infections. It is …

Summary Cytotoxic‐T‐lymphocyte‐antigen‐4 (CTLA‐4) is a negative immune regulator
constitutively expressed on regulatory T (Treg) cells and upregulated on activated T cells …

BACKGROUND Undifferentiated systemic autoinflammatory diseases (USAIDs) present
diagnostic and therapeutic challenges. Chronic interferon (IFN) signaling and cytokine …

The HLH-2004 criteria are used to diagnose hemophagocytic lymphohistiocytosis (HLH), yet
concern exists for their misapplication, resulting in suboptimal treatment of some patients …