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BackgroundLoss-of-function variants in magnesium transporter 1 (MAGT1) cause X-linked Immunodeficiency with Magnesium defect, Epstein-Barr virus infection, and Neoplasia (XMEN) disease through impaired glycosylation. The...

IntroductionSporotrichosis is an uncommon but emerging opportunistic infection in immunocompromised patients. Primary pulmonary sporotrichosis can disseminate and result in significant morbidity and mortality, despite tr...

X-linked severe combined immunodeficiency (SCID-X1) presents as T-B+NK- SCID, due to mutations in the common γ chain (IL2RG/CD132), a shared component of several cytokine receptors. Without definitive therapy, SCID-X1 i...

Dedicator of cytokinesis 8 (DOCK8) deficiency is a rare autosomal recessive combined immunodeficiency marked by severe atopy, recurrent viral and bacterial infections, high immunoglobulin E, eosinophilia, and lymphopenia...

ASCENIV is a 10% intravenous immune globulin (IVIG) indicated for the treatment of primary humoral immunodeficiency (PI) in adults and adolescents (12 to 17 years of age). ASCENIV contains a blend of normal source plasma...

BackgroundInborn errors of immunity (IEIs) are classically identified in infants and young children with severe or recurrent infections. However, hypomorphic variants with a partial loss-of-function can remain unrecogniz...

BackgroundBehçet’s disease is a multisystem inflammatory disorder whose diagnosis can be challenging due to overlapping features with other inflammatory conditions and primary immunodeficiencies (1). In patients with ...

IntroductionBACH2-related immunodeficiency and autoimmunity (BRIDA) increases the risk of developing B cell lymphoma. We present a case of a patient with a known history of common variable immunodeficiency (CVID) and BAC...