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Longitudinal profiling of 136 newborns shows thymic output peaks at 3–4 mo, correlating with plasma RANKL, lymphotoxin-α, and the TCRD variant rs2204985. In thymic tissue, RANKL tracks medullary—but not cortical—e...

All intravenous immunoglobulin (IVIG) products carry a boxed warning for the risks of renal dysfunction and thromboembolic events (TEEs). Patient-related thrombotic risk factors include hyperviscosity, a condition in whi...

Deficiency of adenosine deaminase 2 (DADA2) was identified in 2014 as a novel inborn error of immunity caused by biallelic pathogenic variants in ADA2. DADA2 patients express two predominant clinical phenotypes: (1) auto...

Highly pathogenic avian influenza A (H5N1) remains a major zoonotic threat, yet human infections continue to display striking heterogeneity in clinical severity. We report a fatal case of H5N1 pneumonia in an adult patie...

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...

BackgroundCommon variable immunodeficiency (CVID) is a primary immunodeficiency marked by impaired antibody production and infection susceptibility, with about half developing noninfectious complications. B cell activati...

BackgroundAlthough drug rash with eosinophilia and systemic symptoms (DRESS) and anticonvulsant hypersensitivity syndrome are well-known complications of anti-seizure medications (ASMs), lesser-known immunologic complica...

ObjectivesMevalonate kinase deficiency (MKD) is a metabolic disorder caused by a block in the mevalonate pathway, leading to impaired synthesis of cholesterol and isoprenoids. Clinically, MKD presents with recurrent infl...

Unexplained coagulopathy with persistent anemia presents a significant diagnostic challenge and requires a broad differential. Isolated coagulation factor deficiencies are uncommon and described only sporadically in the ...

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...

C1q deficiency is an inheritable immune disorder attributed to biallelic pathogenic mutations in C1q genes (C1QA, C1QB, or C1QC). Patients with C1q deficiency demonstrate increased susceptibility to severe infections and...