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X-linked agammaglobulinemia (XLA) is an inherited inborn error of immunity caused by low or absent Bruton tyrosine kinase activity, resulting in impaired B cell development, poor immunoglobulin production, and severe, re...

BackgroundChronic granulomatous disease (CGD) is characterized by defective neutrophil oxidative burst activity with subsequent susceptibility to catalase-positive organisms, invasive fungal infections, in addition to in...

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...

Li et al. present a comprehensive clinical framework for diagnosing and managing HA20, an immune dysregulation disease caused by loss-of-function TNFAIP3 variants. The authors outline clinical evaluation strategies, fami...

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...

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...

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...

BackgroundMutations in the regulator of telomere elongation helicase 1 (RTEL1) gene cause excessive telomere shortening, leading to bone marrow failure, dyskeratosis congenita, pulmonary and liver fibrosis, and, in some ...

DNA ligase IV (LIG4) is essential for repairing breaks in double-stranded DNA via nonhomologous end-joining in developing lymphocytes and is particularly important for V(D)J recombination. First described in the early 20...

Inborn errors of immunity (IEI) are increasing in number, and prompt recognition and diagnosis remain a challenge for clinicians. Use of machine learning (ML) for clinical pattern recognition is promising but has been li...

IntroductionSporotrichosis is an uncommon but emerging opportunistic infection in immunocompromised patients. Primary pulmonary sporotrichosis can disseminate and result in significant morbidity and mortality, despite tr...

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 ...

BackgroundLoss-of-function variants in magnesium transporter 1 (MAGT1) cause X-linked Immunodeficiency with Magnesium defect, Epstein-Barr virus infection, and Neoplasia (XMEN) disease through impaired glycosylation. The...

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...

IntroductionLow T cell receptor excision circles (TRECs) on newborn screen and severe T cell lymphopenia in a term newborn raise concern for severe combined immunodeficiency (SCID). Genetic polymorphisms in thiopurine me...

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...

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...

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...

Mucosal-associated invariant T (MAIT) cells express a semi-invariant T cell receptor (TCR) that detects microbial metabolites presented by the nonpolymorphic major histocompatibility complex (MHC)–like molecule MR1. Th...

MYB is a transcription factor and master regulator of hematopoiesis with a central role at multiple stages of B and T cell development. We identified ten heterozygous germline MYB variants in seven families and four unre...

IntroductionMacrophage activation syndrome (MAS) is a rare, potentially fatal hyperinflammatory complication of autoimmune disease, characterized by fever, cytopenias, hyperferritinemia, and multiorgan involvement (1). I...