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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 ...

IntroductionPediatric hemophagocytic lymphohistiocytosis (pHLH) is a life-threatening condition characterized by aberrant immunopathology and systemic manifestations. The HLH-2004 protocol prioritizes urgent immunosuppre...

The nuclear factor kappa light-chain enhancer of activated B cells (NFKB1) pathway is a central regulator of inflammatory gene expression. NFKB1 haploinsufficiency can present with common variable immunodeficiency (CVID)...

Background and AimsThe immune response to an infectious agent is regulated by a complex network of signaling pathways involving numerous genes encoding inflammatory mediators, proteins of the innate and adaptive immune s...

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...

Background and AimsAcquired immunodeficiency in patients with hematological oncology is a serious and common complication, significantly impacting prognosis and quality of life. High doses of cytostatic drugs and the mal...

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...

Background and AimsSepsis is a common complication in patients with hematological malignancies that occurs during chemotherapy treatment, which in turn leads to acquired immunodeficiency. In recent years, increasing atte...