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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...

IntroductionThe precise mechanisms linking TCR-dependent nutrient import and metabolic reprogramming to CD4+ T helper (Th) fate and function remain elusive. Here, we show that the CARD11–BCL10–MALT1 (CBM) complex fac...

IntroductionCD48 is a coactivating receptor within the signaling lymphocytic activation molecule (SLAM) family that is important for the regulation of lymphocyte cytotoxicity and T cell activation. Volkmer et al. previou...

Deficiency in ELF4, X-linked (DEX) is a monogenic autoinflammatory disorder caused by loss-of-function (LOF) mutations in the ETS transcription factor ELF4. This rare disorder primarily affects young, male patients due t...

S-adenosylhomocysteine (SAH) hydrolase deficiency is a rare autosomal recessive disorder caused by pathogenic variants of the gene AHCY. Loss of SAH hydrolase causes SAH accumulation and impairs the methionine/S-adenosyl...

CD19negCD20dim T cells are mostly CD8+ and predominantly express memory markers. Based on the literature, they may be a subset of inflammatory T cells rather than a transient activated state. I postulated that CD19negCD2...

Galactosemia involves different forms of inborn errors of metabolism affecting galactose processing. Different from type 1 and type 2, respectively, related to GALT and GALK1 defects, type 3 galactosemia is due to bialle...

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...

Genome-wide association studies have identified members of the CARD11/MALT1/BCL10 (CBM) complex as susceptibility loci for common allergic disorders, while carriers with rare loss-of-function (LOF) variants in MALT1 or C...

IntroductionTrogocytosis is an intracellular transfer of membrane and membrane-associated proteins in a cell–cell contact manner. Trogocytosis plays an important role in immune regulation. We hypothesized that trogocyt...

BackgroundIL-2Rβ (CD122) is essential for IL-2 and IL-15 signaling and for natural killer (NK) and T cell homeostasis. We and others have recently described biallelic loss-of-function IL2RB variants, primarily affecting...

BackgroundX-linked hyper-IgM syndrome (XHIM) due to CD40L deficiency typically presents in early childhood with recurrent sinopulmonary or opportunistic infections, and its initial manifestations can be misleading. We re...

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...

IntroductionHaploinsufficiency of A20 (HA20) is a monogenic autoinflammatory disorder caused by heterozygous loss-of-function variants in TNFAIP3, resulting in dysregulated NF-κB activation. Clinical presentations are h...