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BackgroundPrimary atopic disorders (PADs) are monogenic inborn errors of immunity marked by severe allergic disease. Heterozygous gain-of-function (GOF) variants in STAT6 have recently been recognized as a PAD associated...

IntroductionHyperuricemia, pulmonary hypertension, renal failure, alkalosis (HUPRA) syndrome is a mitochondrial disease caused by mutations in SARS2 (seryl-tRNA synthetase 2), which plays a role in protein synthesis. Lim...

Diagnosis of specific antibody deficiency (SAD) relies on serotype-specific IgG responses to PPSV23; however, IgG titers do not measure opsonophagocytic function and may misclassify patients due to pre-vaccine titers, va...

IntroductionHyper-IgM syndrome (HIGM) is a rare primary immunodeficiency characterized by impaired immunoglobulin class-switch recombination, most commonly due to mutations in the CD40 ligand (CD40L) gene. Affected patie...

BackgroundMore than one-fourth of the world’s burden of ARPC1B deficiency (ARPC1BD), a rare immune-actinopathy, is reported from Nepal, a resource-constrained Himalayan country with a single trained immunologist. The d...

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...

Interferonopathies are rare autoinflammatory disorders driven by a constitutive upregulation of the type I interferon (IFN-I) pathway, leading to chronic activation of this cytokine. Despite advances, direct IFN-I measur...

IntroductionActivated Phosphoinositide 3-Kinase Delta Syndrome (APDS), a rare inborn error of immunity, is associated with immunodeficiency and immune dysregulation. Clinical management includes symptomatic treatment wit...