Issues

Spondyloenchondrodysplasia (SPENCD) is associated with a loss of tartrate resistant acid phosphatase (TRAP) activity and enhanced type I interferon signaling. We describe the clinical phenotype and molecular architecture of SPENCD, review the biology of TRAP, and consider how TRAP deficiency leads to disturbed innate immunity.

The paper discusses rare inborn errors of immunity affecting MHC class I antigen processing, leading to infections and skin lesions, often misdiagnosed as autoimmune disease. It emphasizes the need for infection-focused care, highlights disease variability, and presents long-term data to guide personalized treatment.

Hyperimmunoglobulin E (hyper IgE) syndrome (HIES) is a rare form of inborn errors of immunity. We report an unusual presentation of intracranial aneurysm in an adolescent girl with AD-HIES. The child was managed successfully by coil occlusion of the intracranial aneurysm.

This questionnaire-based study provides insights into the current healthcare infrastructure used to diagnose and manage inborn errors of immunity across countries and regions involved in the Asia-Pacific Society for Immunodeficiencies.

Topical ruxolitinib induced rapid and sustained improvement of refractory skin inflammation in a child with STAT1 GOF disease, highlighting its potential in managing localized inflammation in immune dysregulation.

We present a case of a patient with a deleterious variant in IFNGR1 who contracted Mycobacterium tuberculosis. However, the patient presented with clinical manifestations suggestive of BCG infection. It is crucial to correctly identify the type of M. tuberculosis to ensure effective treatment.

Previous reports suggested that inherited TCRα deficiency is not as severe as expected. We report children with complete TCRα deficiency, a lack of αβ T cells, and a severe condition. Previously characterized TCRα deficiency was partial, as opposed to complete.