Primary immunodeficiencyGene: POU2AF1
Comment on list classification: New gene added by Boaz Palterer. Single patient described in PMID: 33571536 with agammaglobulinemia and a homozygous POU2AF1 variant (c.233delC, p.Thr78Lysfs∗63) supported by functional data. Rating Red, awaiting further evidence.
Created: 1 Apr 2021, 10:51 a.m. | Last Modified: 1 Apr 2021, 10:51 a.m.
Panel Version: 2.406
Kury et al. described a single patient from consanguineous parents carrying a homozygous frameshift mutation in POU2AF1, encoding for Bob1, presenting with agammaglobulinemia with normal B cells. Functional data showed that Bob1 deficiency ex vivo and in a mouse KO model reduced B-cell responsiveness, impaired plasmablast formation and immunoglobulin secretion.
Created: 24 Feb 2021, 10:03 a.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Agammaglobulinemia; Immunodeficiency; Bob1 deficiency
Gene: pou2af1 has been classified as Red List (Low Evidence).
gene: POU2AF1 was added gene: POU2AF1 was added to Primary immunodeficiency. Sources: Literature Mode of inheritance for gene: POU2AF1 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: POU2AF1 were set to 33571536 Phenotypes for gene: POU2AF1 were set to Agammaglobulinemia; Immunodeficiency; Bob1 deficiency Penetrance for gene: POU2AF1 were set to unknown Review for gene: POU2AF1 was set to RED