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IntroductionOSMR encodes oncostatin M receptor beta (OSMRβ), a cell surface receptor of the gp130 family that binds OSM and IL-31, and is highly expressed on fibroblasts. The gp130 family comprises signaling proteins, m...

We previously reported that inherited human retinoic acid-related orphan receptor gamma T (RORγT) deficiency underlies mycobacterial disease and chronic mucocutaneous candidiasis (CMC) in seven patients from three ances...

While studying familial celiac disease, we identified four individuals with a rare heterozygous loss-of-function variant in the highly conserved, early-evolved ABCF1 gene. In addition, the 246 individuals heterozygous fo...

Background and AimMost infections are innocuous in most individuals, and most infectious diseases are confined to specific organs. Inborn errors of tissue-intrinsic, non-leukocytic immunity underlie some organ-specific i...

T follicular helper (Tfh) cells have been reported to have multiple trajectories, including terminally differentiated Tfh, memory-like circulatory Tfh (cTfh), and, most recently, induced T follicular regulatory (iTfr) ce...

BackgroundIntravenous immunoglobulin (IVIg) products are widely used to treat immune deficiency and autoimmune disorders; however, infusion-related reactions remain a significant clinical concern. Differences in tolerabi...

Inborn errors of immunity (IEI), once considered rare, are more common than previously thought, affecting up to 1:1000 individuals, with 555 IEI identified involving variants in 546 genes. This expanded genetic and clini...

Longitudinal profiling of 136 newborns shows thymic output peaks at 3–4 mo, correlating with plasma RANKL, lymphotoxin-α, and the TCRD variant rs2204985. In thymic tissue, RANKL tracks medullary—but not cortical—e...

Deficiency of adenosine deaminase 2 (DADA2) was identified in 2014 as a novel inborn error of immunity caused by biallelic pathogenic variants in ADA2. DADA2 patients express two predominant clinical phenotypes: (1) auto...

Inborn errors of immunity (IEI) can manifest with neurological disorders, indicating genetic overlap between immune and nervous system diseases. However, neurological disorder genes are rarely screened systematically for...

IntroductionPediatric hemophagocytic lymphohistiocytosis (pHLH) is a life-threatening condition characterized by aberrant immunopathology and systemic manifestations. The HLH-2004 protocol prioritizes urgent immunosuppre...

BackgroundNewborn screening (NBS) with kappa-deleting recombination excision circles (KRECs) is primarily used to detect B cell lymphopenia and agammaglobulinemia as markers of inborn errors of immunity (IEIs). However, ...

IntroductionInborn errors of immunity are genetic disorders that result in the absence or dysfunction of critical components of the immune system. Spondyloenchondrodysplasia (SPENCD) is one of these diseases, causing imm...

The recognition of disorders of immune dysregulation, particularly those presenting with lymphoproliferation and systemic autoimmunity (International Union of Immunological Societies [IUIS] Group 4.6), has markedly incre...

Although Brazil has experienced substantial immigration from the Middle East and Italy, regions with a higher prevalence of pyrin-associated autoinflammatory diseases, pyrinopathies, remain under-investigated in the coun...

BackgroundSolid organ transplantation is an effective treatment for end-stage organ diseases, including renal, hepatic, cardiac, and pulmonary failure (1). Long-term graft survival depends on sustained immunosuppression;...

BackgroundForkhead box N1 (FOXN1) is the master transcriptional regulator of thymic epithelial cells (TECs), quintessential for T cell development. Well-defined biallelic FOXN1 loss-of-function variants lead to congenita...

IntroductionProgressive lung disease remains the leading cause of morbidity and mortality in patients with STAT3 hyper-IgE syndrome (HIES), despite optimal supportive care. Forced expiratory volume in 1 second (FEV1) is ...

IntroductionRNU4ATAC-opathies are characterized by biallelic pathogenic variants and include three recognized phenotypes: autosomal recessive Roifman syndrome, microcephalic osteodysplastic primordial dwarfism (MOPD), an...

Genetic alteration of the genes of cytoskeletal regulatory proteins (e.g., actin-related protein complex-1 [ARPC1]) results in severe immune and hematological defects. ARPC1B deficiency (ARPC1BD) is an immune-actinopathy...

BackgroundGranulomatous-lymphocytic interstitial lung disease (GLILD) is a noninfectious interstitial lung disorder characterized by granulomatous inflammation and lymphoid proliferation. It is most frequently identified...

Atypical CD21low B lymphocytes are a naturally occurring transient subset that has been increasingly recognized in chronic diseases, such as infections and immune dysregulation, where they may persist for long. Their fat...

IntroductionInborn errors of interferon response factors (IRFs) are a subset of monogenic inborn errors of immunity, occurring as a result of damaging variants in the IRF genes. Of these diseases, IRF4 deficiencies are a...

BackgroundChromosome 22q11.2 deletion syndrome is the most common microdeletion chromosomal anomaly. Frequent infections have been described as a major feature of immunodeficiency noted in 22qDS. Immune dysregulation is ...