has material basis in germline mutation in SYK immunodeficiency disease immunodeficiency 82 with systemic inflammation https://github.com/monarch-initiative/mondo/issues/5261 https://www.malacards.org/card/immunodeficiency_82_with_systemic_inflammation A complex autosomal dominant immunologic disorder characterized by recurrent infections with various organisms, as well as noninfectious inflammation manifest as lymphocytic organ infiltration with gastritis, colitis, and lung, liver, CNS, or skin disease. One of the more common features is inflammation of the stomach and bowel. Most patients develop symptoms in infancy or early childhood; the severity is variable. There may be accompanying fever, elevated white blood cell count, decreased B cells, hypogammaglobulinemia, increased C-reactive protein (CRP), and a generalized hyperinflammatory state. Immunologic workup shows variable B- and T-cell abnormalities such as skewed subgroups. Patients have a propensity for the development of lymphoma, usually in adulthood. At the molecular level, the disorder results from a gain-of-function mutation that leads to constitutive and enhanced activation of the intracellular inflammatory signaling pathway. Orphanet:695807 immunodeficiency 82 with systemic inflammation immunodeficiency with systemic inflammation IMD82 MEDGEN:1781752 DOID:0061053 MONDO:0030308 UMLS:C5543581 OMIM:619381