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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 describe two Turkish patients with tyrosine kinase 2 (TYK2) deficiency who experienced recurrent infections ranging from viral to bacterial and intracellular pathogens.Case 1An 8-year-old male patient was first admitt...

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...

RationaleHypogammaglobulinemia increases the risk of life-threatening bacterial infections that require antibiotic treatment in pediatric patients. Only a handful of studies have looked at the prevalence of allergies in ...

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...

Background22q11.2 deletion syndrome (DS) is the second most common cause of congenital heart disease (CHD) and a multisystem disorder that contributes to substantial overall disease burden. Additionally, 22q11.2DS is the...

BackgroundPrimary atopic disorders (PADs) are monogenic inborn errors of immunity marked by severe allergic disease. Heterozygous gain-of-function (GOF) variants in STAT6 have recently been recognized as a PAD associated...

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...

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...

BackgroundAsthma is traditionally conceptualized as a T helper 2 (Th2)-mediated inflammatory airway disease. However, increasing evidence suggests that primary immune dysregulation may underlie or phenotypically mimic as...

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...

The IKAROS family of zinc finger transcription factors (IKZF1–4) plays a central role in lymphocyte development and immune regulation. Pathogenic IKZF1 variants produce a wide phenotypic spectrum related to whether the...

Background22q11.2 deletion syndrome (DS) is the most common chromosomal microdeletion syndrome and a leading cause of developmental delay, congenital heart disease, and varying degrees of T cell immunodeficiency. While m...

BackgroundDominant-negative (DN) STAT3 defects (STAT3-DN) result in >75% loss of STAT3 function and lead to autosomal-dominant hyper-IgE syndrome (HIES) characterized by severe eczema, recurrent bacterial and fungal infe...

X-linked inhibitor of apoptosis (XIAP) is essential for innate and adaptive immune responses, including programmed cell death inhibition, NFkB and MAPK activation, NLRP3 inflammasome activity regulation, and TNFR signali...