From PGT-M discovery to mechanism: functional validation of novel compound heterozygous RAG1 mutations in severe combined immunodeficiency.
Severe combined immunodeficiency (SCID) is a life-threatening primary immunodeficiency disorder. This study aimed to identify novel recombination activating gene 1 (RAG1) variants in a Chinese pedigree and characterize their impact on protein structure and function, providing a genetic basis for pre…
IRAK2 deficiency causes immune dysregulation through defective Myddosome assembly and enhanced interferon responses.
Interleukin-1 receptor-associated kinase 2 (IRAK2) is essential for the Myddosome complex formation downstream of Toll-like receptors. We identify twelve patients with a homozygous loss-of-function copy number variant in IRAK2, designated IRAK2-∆ex2. Most patients present with recurrent infec…
A novel mutation in the STK4 gene (Serine/threonine kinase 4) in a Chinese Blang child.
This study explored the clinical phenotypic characteristics, auxiliary examination findings, and gene mutation features of a patient with an STK4 gene mutation to increase the ability of clinicians to identify STK4 deficiency early and provide more targeted guidance for optimizing subsequent diagnos…
CNS candidiasis typically occurs in patients with candidemia, especially immunocompromised hosts or patients with neurosurgical CNS devices. The gold standard for diagnosis is identification of Candida growth in CSF culture. For initial treatment, liposomal amphotericin B with or without flucytosine…
Quality of life and care burden in mothers of primary immunodeficient children receiving SCIG and IVIG: A descriptive correlational study.
This study aimed to determine the Pediatric Quality of Life with PID according to their method of Ig administration, the care burden of their mothers, and the relationship between these two factors. This descriptive and correlational study was conducted with children aged 2-18 years diagnosed w…
Concurrent Burkholderia cepacia detected by plasma mcfDNA sequencing in a child with MRSA liver abscess and chronic granulomatous disease: a case report.
Chronic granulomatous disease (CGD) is a primary immunodeficiency marked by defective phagocyte function, predisposing patients to recurrent infections, granuloma formation, and hyperinflammation. Initial diagnosis can be delayed due to nonspecific clinical features, incomplete pathogen detection, a…
Molecular and Functional Consequences of the Cdc42 C81Y Mutation in Immune-associated Malignancy.
Cell division control protein 42 homolog (Cdc42) is a small Rho GTPase that cycles between active GTP-bound and inactive GDP-bound states to regulate cytoskeletal dynamics and immune signalling. Pathogenic variants of Cdc42 have been linked to rare immunological disorders, including a recently descr…
Rates and Outcomes of Head and Neck Cancer Among Patients With Primary Immunodeficiency Disorders.
Patients with primary immunodeficiency disorders (PID) have increased hematological cancer risk but the risk of head and neck cancer (HNC) is not well-established. Here, we sought to compare the risk of HNC among patients with PID to that of the general population. Furthermore, we report overall out…