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| BabyScreen+ newborn screening v1.114 | CIITA | Tommy Li Added phenotypes Bare Lymphocyte Syndrome, type II, complementation group A MIM# 209920 for gene: CIITA | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| BabyScreen+ newborn screening v0.1452 | CIITA | Zornitza Stark Marked gene: CIITA as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| BabyScreen+ newborn screening v0.1452 | CIITA | Zornitza Stark Gene: ciita has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| BabyScreen+ newborn screening v0.1452 | CIITA | Zornitza Stark Classified gene: CIITA as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| BabyScreen+ newborn screening v0.1452 | CIITA | Zornitza Stark Gene: ciita has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| BabyScreen+ newborn screening v0.1451 | CIITA |
Zornitza Stark Tag treatable tag was added to gene: CIITA. Tag immunological tag was added to gene: CIITA. |
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| BabyScreen+ newborn screening v0.1451 | CIITA |
Zornitza Stark gene: CIITA was added gene: CIITA was added to gNBS. Sources: Expert Review Mode of inheritance for gene: CIITA was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: CIITA were set to Bare Lymphocyte Syndrome, type II, complementation group A MIM# 209920 Review for gene: CIITA was set to GREEN Added comment: 13 individuals of 11 unrelated families; two mouse models. Homozygous and compound heterozygous variants were identified in these individuals (missense, nonsense and splicing) resulting in premature stop codon and truncated protein, or inactive protein. Affected individuals typically present in infancy with severe (recurrent) respiratory and gastrointestinal tract infections and defective MHC II expression in PBMCs Treatment: BMT. Sources: Expert Review |
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