Activity
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| Primary immunodeficiency or monogenic inflammatory bowel disease v2.403 | ATG4A | Arina Puzriakova Classified gene: ATG4A as Red List (low evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Primary immunodeficiency or monogenic inflammatory bowel disease v2.403 | ATG4A | Arina Puzriakova Added comment: Comment on list classification: New gene added by Boaz Palterer. Single patient described in PMID:33310865 with recurrent herpes simplex virus 2-induced lymphocytic Mollaret's meningitis, and a ATG4A variant (c.268C>A) supported by functional data. Rating Red, awaiting further evidence. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Primary immunodeficiency or monogenic inflammatory bowel disease v2.403 | ATG4A | Arina Puzriakova Gene: atg4a has been classified as Red List (Low Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Primary immunodeficiency or monogenic inflammatory bowel disease v2.401 | ATG4A |
Boaz Palterer gene: ATG4A was added gene: ATG4A was added to Primary immunodeficiency. Sources: Literature Mode of inheritance for gene: ATG4A was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for gene: ATG4A were set to 33310865 Phenotypes for gene: ATG4A were set to Mollaret’s meningitis; recurrent HSV2 meningitis Penetrance for gene: ATG4A were set to unknown Review for gene: ATG4A was set to RED Added comment: Hait et al. described a single patient with a rare heterozygous variant in ATG4 presenting with recurrent HSV2 meningitis (Mollaret's meningitis). They showed that the mutations caused impaired HSV2-induced autophagy leading to increased viral replication and apoptosis of patient fibroblasts. The defect was rescued by the introduction of WT ATG4 into patient fibroblasts. Sources: Literature |
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