Systemic autoinflammatory diseases (SAIDs) are disorders of innate immunity, which are
characterized by unprovoked recurrent flares of systemic inflammation often characterized …

Context Autoimmune polyendocrine syndrome type 1 (APS1) is a monogenic disorder that
features autoimmune Addison disease as a major component. Although APS1 accounts for …

Abstract Recombination-activating gene 1 (RAG1) is a vital player in V (D) J recombination,
a fundamental process in primary B cell and T cell receptor diversification of the adaptive …

Autoantibodies (autoAbs) that neutralize type 1 interferons (T1IFNs) are a major risk factor
associated with developing critical COVID‐19 disease and are most commonly found in …

Purpose We described clinical, immunological, and molecular characterization within a
cohort of 22 RAG patients focused on the possible correlation between clinical and genetic …

Genetic identification of immunodeficiency syndromes has become more efficient with the
availability of whole-exome sequencing, expediting the identification of relevant genes and …

Abstract The Recombination Activating Genes (RAG) 1/2 are important for the development
and function of T and B cells. Loss of RAG1/2 function results in severe combined …

Primary immunodeficiencies (PID) can present with recurrent infections, autoimmunity,
inflammation, or malignancy and each of these conditions can be associated with elevated …

7. Klemans RJ, Otte D, Knol M, Knol EF, Meijer Y, Gmelig-Meyling FH, et al. The diagnostic
value of specific IgE to Ara h 2 to predict peanut allergy in children is comparable to a …

The increasing use of molecular diagnostics has led to rapid expansion of the genotypic and
phenotypic landscape of inborn errors of immunity (IEIs). Like cancer, IEIs are proving to be …