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Shock
The state in which profound and widespread reduction of effective tissue perfusion leads first to reversible, and then if prolonged, to irreversible cellular injury. [from HPO]
Meningitis
Inflammation of the meninges. [from HPO]
Deafness
An inherited or acquired condition characterized by the inability to hear in one or both ears. [from NCI]
Vasculitis due to ADA2 deficiency
Adenosine deaminase 2 deficiency (DADA2) is a complex systemic autoinflammatory disorder in which vasculopathy/vasculitis, dysregulated immune function, and/or hematologic abnormalities may predominate. Inflammatory features include intermittent fevers, rash (often livedo racemosa/reticularis), and musculoskeletal involvement (myalgia/arthralgia, arthritis, myositis). Vasculitis, which usually begins before age ten years, may manifest as early-onset ischemic (lacunar) and/or hemorrhagic strokes, or as cutaneous or systemic polyarteritis nodosa. Hypertension and hepatosplenomegaly are often found. More severe involvement may lead to progressive central neurologic deficits (dysarthria, ataxia, cranial nerve palsies, cognitive impairment) or to ischemic injury to the kidney, intestine, and/or digits. Dysregulation of immune function can lead to immunodeficiency or autoimmunity of varying severity; lymphadenopathy may be present and some affected individuals have had lymphoproliferative disease. Hematologic disorders may begin early in life or in late adulthood, and can include lymphopenia, neutropenia, pure red cell aplasia, thrombocytopenia, or pancytopenia. Of note, both interfamilial and intrafamilial phenotypic variability (e.g., in age of onset, frequency and severity of manifestations) can be observed; also, individuals with biallelic ADA2 pathogenic variants may remain asymptomatic until adulthood or may never develop clinical manifestations of DADA2. [from GeneReviews]
Hearing impairment
A decreased magnitude of the sensory perception of sound. [from HPO]
Infectious meningitis
Inflammation of the meninges of the brain and/or spinal cord caused by an infectious agent (viral, bacterial, or fungal). Symptoms include headache, fever, vomiting, neck stiffness, photophobia, confusion, and seizures. [from NCI]
Increased intracranial pressure
An increase of the pressure inside the cranium (skull) and thereby in the brain tissue and cerebrospinal fluid. [from HPO]
Sepsis
Systemic inflammatory response to infection. [from HPO]
Polyarteritis nodosa
A rare, clinically heterogeneous, systemic disease characterized by necrotizing inflammatory lesions affecting medium-sized blood vessels. It most commonly affects skin, joints, peripheral nerves and the gastrointestinal tract. [from ORDO]
Edema
An abnormal accumulation of fluid beneath the skin, or in one or more cavities of the body. [from HPO]
Cerebral edema
Abnormal accumulation of fluid in the brain. [from HPO]
Streptococcal infection
Any of the several infectious disorders caused by members of streptococcus, a genus of gram positive bacteria belonging to the family Streptococcaceae. Streptococcal infections are classified into Groups A, B, C, D and G. [from NCI]
Active cochlear Meniere disease
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