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| BabyScreen+ newborn screening v0.2053 | TNFAIP3 | Zornitza Stark Marked gene: TNFAIP3 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| BabyScreen+ newborn screening v0.2053 | TNFAIP3 | Zornitza Stark Gene: tnfaip3 has been classified as Red List (Low Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| BabyScreen+ newborn screening v0.2053 | TNFAIP3 | Zornitza Stark Classified gene: TNFAIP3 as Red List (low evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| BabyScreen+ newborn screening v0.2053 | TNFAIP3 | Zornitza Stark Gene: tnfaip3 has been classified as Red List (Low Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| BabyScreen+ newborn screening v0.2052 | TNFAIP3 |
Zornitza Stark Tag treatable tag was added to gene: TNFAIP3. Tag immunological tag was added to gene: TNFAIP3. |
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| BabyScreen+ newborn screening v0.2052 | TNFAIP3 |
Lilian Downie gene: TNFAIP3 was added gene: TNFAIP3 was added to Baby Screen+ newborn screening. Sources: Expert list Mode of inheritance for gene: TNFAIP3 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: TNFAIP3 were set to PMID: 31587140, PMID: 33101300 Phenotypes for gene: TNFAIP3 were set to Autoinflammatory syndrome, familial, Behcet-like 1 MIM#616744 Review for gene: TNFAIP3 was set to RED Added comment: Average age of onset 5yrs - too variable re age of onset. painful and recurrent mucosal ulceration affecting the oral mucosa, gastrointestinal tract, and genital areas. The onset of symptoms is usually in the first decade, although later onset has been reported. Additional more variable features include skin rash, uveitis, and polyarthritis, consistent with a systemic hyperinflammatory state. Many patients have evidence of autoimmune disease. Rare patients may also have concurrent features of immunodeficiency, including recurrent infections with low numbers of certain white blood cells or impaired function of immune cells. Treatment: Colchicine, glucocorticoid, mesalazine, cyclosporine, methotrexate, azathioprine, anakinra, rituximab, tocilizumab, infliximab Sources: Expert list |
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