Primary immunodeficiencyGene: ATG4A
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.
Created: 1 Apr 2021, 10:07 a.m. | Last Modified: 1 Apr 2021, 10:07 a.m.
Panel Version: 2.403
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.
Created: 24 Feb 2021, 10:33 a.m.
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Mollaret’s meningitis; recurrent HSV2 meningitis
Gene: atg4a has been classified as Red List (Low Evidence).
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