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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 ...

BackgroundPatients with acute myeloid leukemia (AML) and prolonged neutropenia are at high risk for invasive fungal infections such as fusariosis, which represents the second most common pathogenic mold infection in this...

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...

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...

Background and Literature ReviewHypereosinophilic syndrome (HES) is a rare, heterogeneous group of disorders defined by persistent hypereosinophilia (>1,500 cells/µL) with eosinophil-mediated end-organ damage. Its estim...

Clinical PresentationPatients with germline TET2 loss of function exhibit a syndrome of immunodeficiency, autoimmune lymphoproliferation, developmental delay, and predisposition to lymphoma. An 8-week-old infant was admi...