A patient with a predominantly neurological phenotype was found to have a mosaic STAT5B gain-of-function variant and was successfully treated with HCT.

Type I IFN autoantibodies (auto-Abs) impair antiviral immunity and are associated with severe COVID-19. This study reveals a 6.7% prevalence of auto-Abs in critically ill Brazilian patients, predominantly affecting older individuals, and links their presence to worse clinical outcomes.

Omenn syndrome is a severe autosomal recessive combined immunodeficiency whose only curative treatment is allogeneic stem cell transplantation. We describe a rare case of infiltrative cardiomyopathy secondary to Omenn syndrome successfully treated by a combination of anti-IL5 antibodies and alemtuzumab, allowing successful HSCT.

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.

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.