The International Union of Immunological Societies (IUIS) expert committee (EC) on Inborn
Errors of Immunity (IEI) reports here the 2022 updated phenotypic classification, which …

We report the updated classification of inborn errors of immunity, compiled by the International
Union of Immunological Societies Expert Committee. This report documents the key …

Monogenic causes of autoimmunity provide key insights into the complex regulation of the
immune system. We report a new monogenic cause of autoimmunity resulting from de novo …

The most recent updated classification of inborn errors of immunity/primary immunodeficiencies,
compiled by the International Union of Immunological Societies Expert Committee, was …

The signal transducer and activator of transcription (STAT) family of transcription factors
orchestrate hematopoietic cell differentiation. Recently, mutations in STAT1, STAT5B, and …

SARS-CoV-2 infection displays immense inter-individual clinical variability, ranging from silent
infection to lethal disease. The role of human genetics in determining clinical response to …

Constitutive heterozygous GATA2 mutation is associated with deafness, lymphedema,
mononuclear cytopenias, infection, myelodysplasia (MDS), and acute myeloid leukemia. In this …

Background Inborn errors of immunity (IEI) are rare diseases, which makes diagnosis a
challenge. A better description of the initial presenting manifestations should improve awareness …

Introduction During the last 4 decades, registration of patients with primary immunodeficiencies
(PID) has played an essential role in different aspects of these diseases worldwide …

Objective: To determine the proportion of children with herpes simplex encephalitis (HSE)
displaying TLR3 deficiency, the extent of TLR3 allelic heterogeneity, and the specific clinical …