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| BabyScreen+ newborn screening v0.2043 | OTULIN | Zornitza Stark Marked gene: OTULIN as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| BabyScreen+ newborn screening v0.2043 | OTULIN | Zornitza Stark Gene: otulin has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| BabyScreen+ newborn screening v0.2043 | OTULIN | Zornitza Stark Classified gene: OTULIN as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| BabyScreen+ newborn screening v0.2043 | OTULIN | Zornitza Stark Gene: otulin has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| BabyScreen+ newborn screening v0.2042 | OTULIN |
Zornitza Stark gene: OTULIN was added gene: OTULIN was added to Baby Screen+ newborn screening. Sources: Expert list treatable, immunological tags were added to gene: OTULIN. Mode of inheritance for gene: OTULIN was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: OTULIN were set to Autoinflammation, panniculitis, and dermatosis syndrome, MIM# 617099 Review for gene: OTULIN was set to GREEN Added comment: Autoinflammation, panniculitis, and dermatosis syndrome (AIPDS) is an autosomal recessive autoinflammatory disease characterized by neonatal onset of recurrent fever, erythematous rash with painful nodules, painful joints, and lipodystrophy. Additional features may include diarrhea, increased serum C-reactive protein (CRP), leukocytosis, and neutrophilia in the absence of any infection. Onset is generally in infancy. Treatment: inflixiimab, anakinra, etanercept, corticosteroids. Non-genetic confirmatory testing: no. Sources: Expert list |
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