Buscar recursos académicos

BackgroundRegulator of telomere elongation helicase 1 (RTEL1) is a gene that encodes a DNA helicase crucial for DNA repair and telomere maintenance. It belongs to a family of genes associated with telomere biology disord...

IntroductionKabuki syndrome (KS) is a rare, complex, multisystem, neurodevelopmental congenital disorder with characteristic phenotypic anomalies and pathogenic genetic variants of the KMT2D or KDM6A genes. KS is highly ...

BackgroundNFKB1 encodes for the p105/p50 nuclear factor-kappa-B (NF-kB1) transcription factors. Heterozygous mutations in NFKB1 may lead to NF-kB1 insufficiency, which may result in a multiorgan disease. Here, we aimed t...

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]),...

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

Artemis-deficient severe combined immunodeficiency (SCID) is a rare autosomal recessive disorder caused by pathogenic variants in DCLRE1C, which encodes ARTEMIS, a DNA repair endonuclease essential for V(D)J recombinatio...

Common variable immunodeficiency (CVID) is the most prevalent symptomatic primary immunodeficiency and remains underdiagnosed in Brazil due to limited knowledge of its genetic landscape. Since 2024, the Centro Nacional d...

BackgroundTelomere biology disorders (TBD) are rare multisystem disorders characterized by a wide array of clinical presentations, including bone marrow failure, pulmonary fibrosis, and malignancy predisposition due to p...