Primary immunodeficiencyGene: MAP1LC3B2
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 MAP1LC3B2 variant (c.325C>A) supported by functional data. Rating Red, awaiting further evidence.
Created: 1 Apr 2021, 10:08 a.m. | Last Modified: 1 Apr 2021, 10:08 a.m.
Panel Version: 2.404
Hait et al. described a single patient with a rare heterozygous variant in MAP1LC3B2 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 MAP1LC3B2 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: map1lc3b2 has been classified as Red List (Low Evidence).
gene: MAP1LC3B2 was added gene: MAP1LC3B2 was added to Primary immunodeficiency. Sources: Literature Mode of inheritance for gene: MAP1LC3B2 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for gene: MAP1LC3B2 were set to 33310865 Phenotypes for gene: MAP1LC3B2 were set to Mollaret’s meningitis; recurrent HSV2 meningitis Penetrance for gene: MAP1LC3B2 were set to unknown Review for gene: MAP1LC3B2 was set to RED