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| BabyScreen+ newborn screening v1.114 | AICDA | Tommy Li Added phenotypes Immunodeficiency with hyper-IgM, type 2, MIM# 605258 for gene: AICDA | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| BabyScreen+ newborn screening v0.1840 | AICDA | Zornitza Stark Marked gene: AICDA as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| BabyScreen+ newborn screening v0.1840 | AICDA | Zornitza Stark Gene: aicda has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| BabyScreen+ newborn screening v0.1840 | AICDA | Zornitza Stark Classified gene: AICDA as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| BabyScreen+ newborn screening v0.1840 | AICDA | Zornitza Stark Gene: aicda has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| BabyScreen+ newborn screening v0.1839 | AICDA |
Zornitza Stark gene: AICDA was added gene: AICDA was added to gNBS. Sources: Expert Review treatable, immunological tags were added to gene: AICDA. Mode of inheritance for gene: AICDA was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: AICDA were set to Immunodeficiency with hyper-IgM, type 2, MIM# 605258 Review for gene: AICDA was set to GREEN Added comment: Hyper-IgM syndrome type 2 (HIGM2) is a rare immunodeficiency characterized by normal or elevated serum IgM levels with absence of IgG, IgA, and IgE, resulting in a profound susceptibility to bacterial infections. Well established gene-disease association. Severe, congenital disorder. Treatment: immunoglobulin replacement therapy. Confirmatory testing: antibody levels. Sources: Expert Review |
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