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IntroductionReceptor-interacting serine/threonine-protein kinase 1 (RIPK1), a cytosolic protein, plays an essential role in signaling pathways responsible for inflammation and programmed cell death. In humans, two main c...

Echinocandins are highly bound to serum proteins, altering their antifungal properties. The addition of 50% human serum to the MIC assay improves the identification of echinocandin-resistant Candida spp. harboring fks ho...

Infections caused by Carbapenem-resistant Acinetobacter baumannii (CRAB) isolates, such as hospital-acquired pneumonia (HAP), bacteremia, and skin and soft tissue infections, among others, are particularly challenging to...

Cobalamin (vitamin B12) is a vitamin with a defined role in human metabolism. Since its discovery in the 20th century, our understanding of its deficiency that results in multifaceted disorders with a significant impact ...

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...

Genetic hemochromatosis (GH) and alpha-1 antitrypsin (AAT) deficiency (AATD)  are two autosomal recessive disorders associated with an increased risk for liver injury. Among different AATD and GH genotypes, the M-Malton...

We previously showed that the combination of the non-nucleoside reverse transcriptase inhibitor (NNRTI) MIV-150 with zinc acetate (ZA) formulated in a carrageenan (CG; MZC) gel provided macaques significant protection ag...

Spinocerebellar ataxia type 8, a debilitating neurological disease with no effective treatment, is caused by a CAG•CTG expansion mutation. In SCA8 mice, metformin decreases repeat-associated non-AUG proteins and neuroi...

Mixed infection refers to the presence of multiple Mycobacterium tuberculosis strains within one host, while heteroresistance denotes the coexistence of drug-susceptible and drug-resistant strains or genotypes. Mixed inf...

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...

Background Noninvasive methods of quantitating exercise tolerance in dogs with neuromuscular disease are needed both for clinical and research use. The 6‐minute walk test (6MWT) has been validated as a reliable test of...

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...

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...

Abstract We conducted a Phenome-Wide Association Study (PheWAS) to investigate whether alleles previously shown to be associated with problem behaviors in Labrador Retrievers from the U.S. Transportation Security Adminis...

BackgroundGlucose-6-phosphate dehydrogenase (G6PD) provides the main cellular source of NADPH through the pentose phosphate pathway, supporting antioxidant defenses and metabolic programs required for hematopoietic devel...

Cartilage-hair hypoplasia is a rare autosomal recessive skeletal dysplasia. It is particularly prevalent in the Finnish and Amish populations but increasing reports have been documented worldwide. It is caused by pathoge...

ObjectiveTo investigate the antimicrobial resistance characteristics of Salmonella spp. isolated from retail whole chickens in Beijing， analyze the prevalence and genomic characteristics of cefotaxime （CTX）-resista...

Abstract Hepatic Epstein-Barr virus-positive inflammatory follicular dendritic cell sarcoma (EBV+IFDCS) is an extremely rare low-grade malignant tumor. Due to its rarity and lack of specific symptoms, laboratory markers,...

CARMIL2 is a protein required for T cell activation, specifically for CD28 and CARMA-1/PKC coupling and NF-kB signaling. CARMIL2 deficiency has pleiotropic presentations, which can include recurrent viral and mucocutaneo...

RNU4ATAC-opathies are genetic conditions that include growth restriction, skeletal dysplasia, and cognitive impairment. Historically, these have been divided phenotypically into microcephalic osteodysplastic primordial d...

BackgroundAutoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy (APECED) is a rare monogenic autoimmune disorder caused by mutations in the AIRE gene and is characterized by immune dysregulation with multi-organ...

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...

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...

The lysosomal storage disorder Fabry disease (FD) is caused by pathogenic mutations in the α-galactosidase A gene, localized in X chromosome. Deficient enzymatic activity of the product of this gene, the lysosomal hydro...