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Abstract Background Despite antiretroviral therapy (ART), people with HIV (PWH) face immunological ageing and accelerated comorbidities including coronary artery disease (CAD). Gut mucosal damage, chronic inflammation, a...

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...

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...

RationaleCommon variable immunodeficiency (CVID) is a chronic, multisystem immune disorder associated with substantial symptom burden beyond infections, particularly among individuals with noninfectious inflammatory comp...

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...

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...

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 ...

Micronutrients serve as critical metabolic sensors and epigenetic regulators that orchestrate cytokine production through multiple overlapping signalling cascades, transcriptional networks, and cellular metabolic states....

Clinical research and real-world observational studies are essential for advancing the diagnosis and treatment of rare diseases, such as inborn errors of immunity/primary immune disorders (IEI/PID). To support efficient ...

Interferonopathies are rare autoinflammatory disorders driven by a constitutive upregulation of the type I interferon (IFN-I) pathway, leading to chronic activation of this cytokine. Despite advances, direct IFN-I measur...

IntroductionThe ERCC2 gene, located on chromosome 19, is essential for transcription and DNA repair via its protein product, XPD. Mutations in ERCC2 cause disorders such as trichothiodystrophy-1, xeroderma pigmentosum, C...

BackgroundProgressive multifocal leukoencephalopathy (PML) is a rare opportunistic brain infection caused by the JC virus, and idiopathic PML is increasingly recognized. Deeper profiling of such patients often reveals oc...

Unexplained coagulopathy with persistent anemia presents a significant diagnostic challenge and requires a broad differential. Isolated coagulation factor deficiencies are uncommon and described only sporadically in the ...

IntroductionAdenosine deaminase–deficient severe combined immunodeficiency (ADA-SCID) is an autosomal recessive disorder comprising ∼15% of SCID cases. Newborn screening (NBS) relies on T cell receptor excision circl...

BackgroundRAS-associated autoimmune leukoproliferative disorder (RALD) is a rare immune-dysregulation syndrome caused by pathogenic mutations in RAS–MAPK pathway genes, most commonly KRAS. It is characterized by autoim...

Acute respiratory distress syndrome (ARDS) and cancer share common pathogenetic mechanisms that involve immune dysregulation and inflammatory responses. Inflammasomes, part of the initial innate immune response to infect...

Background and AimsThe primary focus of neonatal screening is the early detection of asymptomatic infants with a range of serious diseases for which effective treatment is available and for which early diagnosis and inte...

We report a previously healthy 4-year-old female presenting with a diffuse, recurrent, pruritic, erythematous rash involving the entire body with eight episodes over 2 years, each lasting 7–10 days. The rash reliably a...

BackgroundGranulomatous-lymphocytic interstitial lung disease (GLILD) is a major cause of morbidity and mortality in common variable immunodeficiency (CVID), yet its pathophysiology remains incompletely understood, and n...

Obinutuzumab is a humanized type II anti-CD20 monoclonal antibody with enhanced antibody-dependent cellular cytotoxicity. It is widely used in B-cell malignancies and is increasingly being explored in autoimmune diseases...

BackgroundCommon variable immunodeficiency (CVID) is diagnosed at ages ≥4 years with hypogammaglobulinemia across more than two immunoglobulin classes, leading to impaired vaccine responses, frequent infectious, autoim...

ObjectiveThis systematic review and meta-analysis aims to evaluate the effects of Tai Chi Chuan on the expression of pro-inflammatory genes IL-6, IL-1β, and TNF-α—downstream of the NF-κB pathway—in adults with chr...

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...