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Clinical and Immunological Characteristics of Kabuki Syndrome Patients with Autoimmune Cytopenias

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Clinical and Immunological Characteristics of Kabuki Syndrome Patients with Autoimmune Cytopenias

Paola Suhet et al · Rockefeller University Press · 2026 · ISSN 3065-8993

BackgroundKabuki syndrome (KS) is a multisystem genetic disorder caused predominantly by pathogenic variants in KMT2D or KDM6A, characterized by developmental delay, congenital anomalies, and immune dysregulation. Autoim...

LCC LCC:Immunologic diseases. AllergyIdioma eng

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Unraveling B Cell Lymphoma Presenting as AKI and Hypercalcemia in a Patient with BACH2 Variant and CVID

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Unraveling B Cell Lymphoma Presenting as AKI and Hypercalcemia in a Patient with BACH2 Variant and CVID

Renee Crawford et al · Rockefeller University Press · 2026 · ISSN 3065-8993

IntroductionBACH2-related immunodeficiency and autoimmunity (BRIDA) increases the risk of developing B cell lymphoma. We present a case of a patient with a known history of common variable immunodeficiency (CVID) and BAC...

LCC LCC:Immunologic diseases. AllergyIdioma eng

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