Several new discoveries have revived interest in the pathogenic potential and possible
clinical roles of IL-18. IL-18 is an IL-1 family cytokine with potent ability to induce IFNγ …

Vitamin B12 (cobalamin, Cbl, B12) is an indispensable water-soluble micronutrient that
serves as a coenzyme for cytosolic methionine synthase (MS) and mitochondrial …

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 …

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

The International Collaboration in Asthma, Allergy and Immunology initiated an international
coalition among the American Academy of Allergy, Asthma & Immunology; the European …

Evans' syndrome (ES) is defined as the concomitant or sequential association of warm auto-
immune haemolytic anaemia (AIHA) with immune thrombocytopenia (ITP), and less …

Patients with autoimmune multilineage cytopenias are often refractory to standard therapies
requiring chronic immunosuppression with medications with limited efficacy and high …

Autoimmune lymphoproliferative syndrome (ALPS) presents in childhood with nonmalignant
lymphadenopathy and splenomegaly associated with a characteristic expansion of mature …

The kinases RIPK1 and RIPK3 and the pseudo-kinase MLKL have been identified as key
regulators of the necroptotic cell death pathway, although a role for MLKL within the whole …

In addition to susceptibility to infections, conventional primary immunodeficiency disorders
(PIDs) and inborn errors of immunity (IEI) can cause immune dysregulation, manifesting as …