Evolution of Inborn Errors of Immunity in China: Discoveries and Treatment Paradigms

Challenges in Diagnosis and Management of Adult Inborn Errors of Immunity: The Serbian Experience

The experience of the Clinic of Allergy and Immunology at the University Clinical Center of Serbia illustrates not only the broad spectrum of IEI phenotypes managed at a national referral center but also emphasizes the pivotal role of specialized centers in identifying and characterizing ultra-rare cases.

Genetic and Clinical Spectrum of Inborn Errors of Immunity in the Pakistani Population: A Systematic Review

Inborn errors of immunity (IEIs), historically termed primary immunodeficiencies (PID), are a broad group of rare inherited diseases caused by genetic variants that impair the development or functioning of the immune system. Although IEIs are genetically determined, molecular diagnoses remain unavailable for a su...

Immune dysregulatory disorders: perspective from solving a diagnostic odyssey.

PURPOSE OF REVIEW Inborn errors of immunity (IEIs), once considered rare disorders characterized primarily by recurrent infections, are now recognized as a rapidly expanding group of diseases encompassing autoimmunity, autoinflammation, allergy, malignancy, and immune dysregulation. Advances in next-generation sequenci...

Primary Immunodeficiency Disorders and Inborn Errors of Immunity in Saudi Arabia: Current Evidence on Epidemiology, Clinical Impact, and Healthcare System Challenges

The current literature highlights important recurring themes, including the significance of consanguinity, the high reported incidence of severe combined immunodeficiency (SCID) in selected studies, timely diagnosis, registry data, and the value of strengthening screening and referral pathways.

Clinical, immunological, and molecular characteristics of severe combined immune deficiency in China

Shared Pathways of Immune Dysregulation: Linking Autoimmunity and Inborn Errors of Immunity

Inborn errors of immunity (IEIs) frequently present with rheumatologic and autoimmune manifestations that closely mimic common polygenic conditions, including systemic lupus erythematosus, juvenile idiopathic arthritis, and vasculitis, posing significant challenges to early recognition and diagnosis. Current data indic...