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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 ...

We present the case of a 17-year-old male with a long-standing history of recurrent and persistent cutaneous abscesses beginning at 6 years of age. Lesions were widespread, affecting the scalp, trunk, buttocks, and extre...

Immune dysregulation can lead to autoimmunity and autoinflammation. The goal of treatment is to balance targeted therapies while avoiding infections or other side effects, which becomes complicated with multiple diagnose...

Autosomal-dominant hyper-IgE syndrome (AD-HIES) is characterized by chronic mucocutaneous candidiasis, recurrent sinopulmonary pneumonias, noninflammatory atopic dermatitis, extremely high levels of serum IgE, and non-im...

RELA-related disease is a rare, autosomal-dominant condition presenting with immune dysregulation and immunodeficiency. RELA encodes the p65 subunit, a component of the canonical NFκB pathway. The underlying pathogenesi...

BackgroundGATA2 deficiency results from heterozygous pathogenic variants in the GATA2 gene, which encodes a zinc-finger transcription factor essential for hematopoietic stem and progenitor cell development. It is a highl...

IntroductionOSMR encodes oncostatin M receptor beta (OSMRβ), a cell surface receptor of the gp130 family that binds OSM and IL-31, and is highly expressed on fibroblasts. The gp130 family comprises signaling proteins, m...

IntroductionMacrophage activation syndrome (MAS) is a rare, potentially fatal hyperinflammatory complication of autoimmune disease, characterized by fever, cytopenias, hyperferritinemia, and multiorgan involvement (1). I...

BackgroundCOPA syndrome is a rare autosomal-dominant immune dysregulation disorder caused by pathogenic variants in the COPA gene, typically presenting with autoimmunity, arthritis, and interstitial lung disease. However...