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Abstract Rare disease gene discovery is limited by small cohorts and the frequent absence of matched controls. We present the Case-Only Burden Test (COBT), a gene-based burden test for case-only designs accounting for mu...

Abstract Chronic granulomatous disease (CGD) is an inherited immunodeficiency characterized by impaired phagocytic function due to defects in the NADPH oxidase complex. This enzymatic deficiency compromises the productio...

Abstract Background Current understanding of the fluid biomarker profile in early-onset Alzheimer’s disease (EOAD) associated with pathogenic APP variants remains limited. We characterized four EOAD pedigrees carrying ...

Hypertrophic cardiomyopathy (HCM) is a common hereditary cardiovascular disease, but the genetic etiology of nearly 50% of cases remains unclear. This case report describes two siblings in a non-consanguineous family who...

ObjectiveThis study seeks to trace the source of HIV infection in a male adolescent (P1) with a newly recognized heterosexual orientation in Zhejiang Province on August 23, 2019.MethodsAn in-depth epidemiological intervi...

Abstract Although papillary thyroid cancer (PTC) genetic research has advanced from identifying driver genes to investigating susceptibility loci and gene-environment interactions, data in Chinese populations remain limi...

A 5-year-old female presented at age 2 with recurrent respiratory and ear infections, aphthous ulcers, and severe neutropenia (absolute neutrophil count [ANC] = 400 cells/mcl). Immunological testing at age 4 showed neutr...

Abstract Background Hereditary breast and ovarian cancer (HBOC) confers a markedly increased lifetime risk of breast and ovarian cancers. As no effective surveillance method for early detection of ovarian cancer has been...

Abstract Background Neuronal intranuclear inclusion disease (NIID) is a rare and progressive neurodegenerative disorder, distinguished by extreme clinical heterogeneity that frequently results in diagnostic delays. Whil...

BackgroundPrimary ciliary dyskinesia (PCD) management relies on mucociliary clearance to prevent bronchiectasis. While humoral immunodeficiencies have been reported in PCD, their clinical significance remains under-defin...

BackgroundNewborn screening (NBS) with kappa-deleting recombination excision circles (KRECs) is primarily used to detect B cell lymphopenia and agammaglobulinemia as markers of inborn errors of immunity (IEIs). However, ...

Background Preimplantation genetic testing for aneuploidy (PGT-A) is used principally to identify embryos with whole chromosome aneuploidy, which are generally considered non-viable. Reports of healthy live births follow...

Abstract Background Iodine plays a critical role in producing thyroid hormones essential for brain development. An imbalance of iodine, whether deficiency or excess, can disrupt thyroid function. Iodine-induced hypothyro...

Abstract Multifocal Ectopic Purkinje-related Premature Contractions (MEPPC) syndrome is a recently recognized rare channelopathy caused by gain-of-function mutations in the SCN5A gene, leading to a high burden of prematu...

We present the case of a 43-year-old male who presented to pulmonology with 3 years of chronic cough and recurrent sinopulmonary infections. He was diagnosed with bronchiectasis and found to have mild thrombocytopenia an...

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...

BackgroundPyoderma gangrenosum (PG) is a rare ulcerative neutrophilic dermatosis that can be associated with primary immunodeficiencies. Its pathogenesis is incompletely understood, but it has been increasingly reported ...

Autoimmune cytopenias (AIC) are characterized by immune-mediated destruction of platelets (immune thrombocytopenia [ITP]), red blood cells (autoimmune hemolytic anemia [AIHA]), neutrophils (autoimmune neutropenia [AIN]),...

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...

IntroductionRNU4ATAC-opathies are characterized by biallelic pathogenic variants and include three recognized phenotypes: autosomal recessive Roifman syndrome, microcephalic osteodysplastic primordial dwarfism (MOPD), an...

Reticular dysgenesis (RD) is a rare, severe form of severe combined immunodeficiency (SCID) caused by biallelic AK2 mutations, leading to profound defects in lymphoid and myeloid maturation. Unlike other SCID phenotypes,...

BackgroundEarly complement pathway deficiencies predispose to invasive infections with encapsulated bacteria. C2 deficiency is the most common human complement deficiency, yet it may remain clinically silent until a life...

IntroductionHyperinflammatory and hemophagocytic lymphohistiocytosis (HLH)-like presentations are increasingly recognized as clinical “red flags” for inborn errors of immunity (IEI), including severe combined immunod...

Abstract Background Hemolytic uremic syndrome (HUS) is classically defined by the triad of microangiopathic hemolytic anemia, thrombocytopenia, and acute kidney injury (AKI) and is most often associated with renal thromb...