A case of neutralizing anti–IFN-ω autoantibodies impairing antiviral defense and driving severe adenovirus pneumonia in a child.

The author reviews the efficacy of topical NO-releasing materials, drugs that generate NO-related moieties, and inhalation of NO gas against viral, bacteri

This study provides the first comprehensive description of the clinical phenotype and outcomes of all known patients with the heterozygous IRF4 p.T95R vari

Here, Clemmensen et al. investigated the heredity of IFN-I auto-Abs in adults in a large Danish twin cohort of 1,318 twin pairs. Overall, the data do not s

Iglesias-Herrero et al. longitudinally assess JAK-inhibitor treatment response in two patients with STAT1 gain-of-function and show that it induces rapid b

This study shows that neutralizing autoantibodies against type I IFNs are more frequent in severe, critical, and fatal COVID-19 cases in southern Brazil, h

Primary immune regulatory disorders (PIRDs), autoinflammatory, and hyperinflammatory syndromes can be life-threatening and/or significantly impact quality

Swamy et al. describe an Australian/New Zealand cohort where identification of monogenic inborn errors of immunity through next-generation sequencing resul

Swamy et al. describe an Australian/New Zealand cohort where identification of monogenic inborn errors of immunity through next-generation sequencing resul

We report two cases of ADA-SCID complicated by severe hepatic manifestations, including hepatoblastoma and infantile hepatic hemangiomatosis. These cases h

Galli, Recher et al. describe two patients with hypogammaglobulinemia associated with myotonic dystrophy type 1 (DM1), a rare and underdiagnosed monogenic

Patel et al. describe an elderly woman with severe chronic neutropenia caused by mosaic TLR8 gain-of-function. The report broadens a primarily pediatric, m

Dethier et al. describe a young girl with SAVI on prolonged JAK inhibitors who developed fatal Aspergillus endocarditis. This report illustrates the major

This review covers the human genetic defects affecting the phagocytic respiratory burst, highlighting the dichotomy between defects of the core NADPH oxida

AOSD is challenging to diagnose. Chong et al. examine the clinical utility of skin biopsy, an inexpensive and widely available test, in 16 patients with AO

The prevalence of autoantibodies neutralizing type I IFNs is significantly higher in Japanese patients with hepatitis C (2.7%) than in age-matched healthy

Tomomasa et al. describe that a clustering of patients with IRAK4 deficiency was identified in Okinawa Prefecture, Japan. All affected families carried the

Dr. Daniel L. Kastner, former Scientific Director of NHGRI, was a visionary physician-scientist whose discoveries transformed the understanding of innate i

We are an energetic group of physicians and scientists seeking to answer a simple question: why do only a small subset of humans develop life-threatening...

Fagniez et al. identify new patients with inherited RORγT deficiency characterized by impaired TCRα rearrangement, depletion of MAIT and iNKT cells, reduce

Human T-bet is involved in the regulation of distinct leukocyte subsets, when compared with its mouse counterpart, with its deficiency underlying severe mycobacterial disease

Multi-omics characterization of 2 patients with biallelic HYOU1 variants reveals that HYOU1 deficiency impairs the unfolded protein response, disrupts earl

Using data from the All of Us Research Program, Xin Long et al. found that HLA-DQ2.5, the major genetic risk for celiac disease, is present across diverse