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The nuclear factor kappa light-chain enhancer of activated B cells (NFKB1) pathway is a central regulator of inflammatory gene expression. NFKB1 haploinsufficiency can present with common variable immunodeficiency (CVID)...

Celiac disease (CD) and Hashimoto’s thyroiditis (HT) frequently coexist, suggesting that shared mechanisms of autoimmunity extend beyond the intestine. In CD, the pathogenic role of gluten is firmly established; in HT,...

Abstract Background This letter engages with the seminal review by Argyrakopoulou et al. Obesity and the Gut-Brain Axis in Type 1 Diabetes Mellitus: Terra Incognita? Curr Obes Rep, https://doi.org/10.1007/s13679-025-0065...

IntroductionPathogenic variants in the COPA gene are associated with autosomal-dominant autoimmune interstitial lung, joint, and kidney disease, a condition known as COPA syndrome. It is associated with a type I interfer...

BackgroundThe cytotoxic T lymphocyte-associated protein 4 (CTLA-4) is a well-known immune checkpoint inhibitor. Heterozygous germline mutations in CTLA4 in humans lead to immune deficiency, autoimmunity, auto-inflammatio...

LPS-responsive beige-like anchor protein (LRBA) deficiency is a primary immunodeficiency belonging to the spectrum of common variable immunodeficiency disorders, frequently associated with immune dysregulation, autoimmun...

BackgroundItchy E3 ubiquitin ligase deficiency (ITCH deficiency) is a rare monogenic immune dysregulation syndrome characterized by early-onset multisystem autoimmunity and significant morbidity and mortality. Only one p...

BackgroundThymoma is frequently associated with myasthenia gravis (MG), but the coexisting of stiff person syndrome (SPS) is exceedingly rare. This overlap syndrome poses diagnostic and therapeutic challenges, and its im...

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...

BackgroundTranscription factor forkhead box protein N1 (FOXN1) is the master transcription factor required for differentiation and maintenance of thymic epithelial cells (TECs) and is not only required for embryonic thym...

Abstract A 61‐year‐old man visited our hospital with a sudden onset of polydipsia and polyuria occurring 5 days prior, accompanied by a 5‐kg weight loss. A month prior, his glycated hemoglobin level was 6.2%. Pre...

Multiple sclerosis (MS) is a highly disabling neurodegenerative autoimmune condition in which an unbalanced immune response plays a critical role. Although the mechanisms remain poorly defined, helminth infections are kn...

NCKAP1L encodes hematopoietic protein-1 (HEM1), a component of the WASp family verproline-homologous protein (WAVE) actin regulatory complex, activated downstream of multiple immune receptors. HEM1 deficiency disrupts WA...

IntroductionComplement C2 deficiency is a classical pathway defect associated with recurrent infections and autoimmunity. This case demonstrates the need for increased awareness amongst rheumatologists for the indication...

Immune dysregulation is a common yet underrecognized feature of Down syndrome that contributes to infections, autoimmunity, and autoinflammation. Using clinical vignettes, this work highlights the underlying mechanisms a...

Forkhead box P3 (FOXP3) is the master transcription factor of regulatory T cells (Tregs) and is essential for maintaining immune tolerance. FOXP3 is stably expressed in Tregs, driving their suppressive function, and it i...

BackgroundCongenital athymia (CA) is a rare T cell immune deficiency, fatal without curative treatment with allogeneic processed thymus tissue–agdc (RETHYMIC) implantation (here termed CTTI). The rate and extent of T c...

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 ...

Germline gain-of-function (GOF) variants in the transcription factor STAT3 are associated with early-onset, multisystem autoimmunity, lymphoproliferation, and immune dysregulation. Although STAT3 hyperactivation is a def...

IntroductionThe immune system is recognized as participating in the pathophysiology of psychiatric disease and there is renewed interest in identifying biomarkers of this immune activation. MethodsWe measured serum and c...

BackgroundAutoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy (APECED) is an inborn error of immunity caused by loss-of-function of the AIRE gene. Lack of AIRE impairs thymic negative selection of T cells, cau...

Inborn errors of immunity are a group of genetic disorders caused by mutations that affect the development and/or function of several compartments of the immune system, predisposing patients to infections, autoimmunity, ...

Immune dysregulation, polyendocrinopathy, enteropathy, X-linked (IPEX) syndrome is a monogenic disorder caused by loss-of-function mutations in the FOXP3 gene, which is critical for the development of functional regulato...

Autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy (APECED/APS-1) is a monogenic disorder of failed central tolerance caused by deleterious variants in the autoimmune regulator (AIRE) gene. Interferon-γ-driv...