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

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

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

The cutting and joining of DNA is a key step in immune cell development, but inherited errors in this process can cause individuals to be born without func

First-degree relatives of patients with celiac disease have an estimated ∼10% lifetime risk of developing the condition, and periodic screening is therefor

The presence of type I IFN-neutralizing antibodies (NAbs) is a life-threatening risk factor for multiple infectious diseases. This study reports the preval

Chin et al. develop a temporal windowing methodology that groups recurrent sinusitis encounters into discrete episodes in electronic health records. Applie

Timmermans et al. report culture-negative septic arthritis caused by Ureaplasma parvum in a patient with LRBA deficiency, mimicking autoimmune disease. Usi

Baker et al. report an inborn error of immunity resulting from a genomic translocation. A 13-year-old male is identified with complex symptoms including th

STAT1 defects present with diverse clinical phenotypes. Thiagarajan et al. describe an unusual genotype/phenotype: disseminated mycobacterial infection wit

STAT1 gain-of-function mutations cause chronic mucocutaneous candidiasis and broad immune dysregulation, yet African data are limited. In a Moroccan cohort

Chikungunya virus (CHIKV) infection is typically not life threatening but may, in rare cases, affect the central nervous system (CNS). In three coh...

STAT1 gain-of-function mutations cause chronic mucocutaneous candidiasis and broad immune dysregulation, yet African data are limited. In a Moroccan cohort

Nishinosono et al. show that nationwide TREC/KREC newborn screening in Japan demonstrates that large-scale programs can achieve favorable outcomes while re

In this News & Views, we discuss two studies reporting autosomal recessive OSMRβ deficiency as a new inborn error of immunity marked by severe atopy, h

Baba et al. demonstrate the utility of multidisciplinary genetic evaluation for identifying inborn errors of immunity in adult rheumatology practice. They

A subset of patients evaluated for immune dysregulation presents with increased proportions of TCR γδ cells despite normal total lymphocyte counts. Corresp

The authors identify three novel mutations in AIRE and detect T cell defects in patients with APS-1. Furthermore, they review the literature and identify a

Wouters et al. review the clinical and genetic landscape of DADA2, a multisystem inborn error of immunity. It examines expanding phenotypes, emerging patho

Proceedings of the National Academy of Sciences (PNAS), a peer reviewed journal of the National Academy of Sciences (NAS) - an authoritative source of high-impact, original research that broadly spans...

Yanes et al. presents evidence-based guidelines from the Australasian Society of Clinical Immunology and Allergy to support clinicians in selecting patient