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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...

IntroductionChronic spontaneous urticaria (CSU) is a clinical diagnosis managed according to American Academy of Allergy, Asthma & Immunology (AAAAI) and the American College of Allergy, Asthma & Immunology (ACAAI) guide...

Thymic stromal cells drive T cell development by supplying key cues for progenitor proliferation and differentiation. Although thymic epithelial cells are well characterized, recent studies highlight crucial functions of...

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...

BackgroundNewborn screening for severe combined immunodeficiency (SCID) using T cell receptor excision circles (TRECs) enables early detection of disorders affecting T cell development. While low TRECs typically indicate...

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...

CARMIL2 is a protein required for T cell activation, specifically for CD28 and CARMA-1/PKC coupling and NF-kB signaling. CARMIL2 deficiency has pleiotropic presentations, which can include recurrent viral and mucocutaneo...