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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...

SASH3 deficiency is an X-linked combined immunodeficiency characterized by recurrent sinopulmonary, cutaneous, and mucosal infections, refractory autoimmune cytopenia, and immune dysregulation. We report here the first t...

IntroductionPathogenic variants in the COPA gene are associated with autosomal-dominant autoimmune interstitial lung, joint, and kidney disease, a condition known as COPA syndrome. It is associated with a type I interfer...

BackgroundX-linked hyper-IgM syndrome (XHIM) due to CD40L deficiency typically presents in early childhood with recurrent sinopulmonary or opportunistic infections, and its initial manifestations can be misleading. We re...

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 ...

RNU4ATAC-opathies are genetic conditions that include growth restriction, skeletal dysplasia, and cognitive impairment. Historically, these have been divided phenotypically into microcephalic osteodysplastic primordial d...

BackgroundRecurrent bacterial pneumonia accompanied by atypical systemic findings may indicate an uncharacterized inborn error of immunity (IEI). We report a 10-year-old male with recurrent pneumonias, mildly low but fun...