Primary immunodeficiencyGene: REL
Single individual from consanguineous family reported with homozygous canonical splice site variant, no functional data.
Created: 12 Apr 2020, 4:40 a.m. | Last Modified: 12 Apr 2020, 4:40 a.m.
Panel Version: 2.51
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Combined immunodeficiency; T cells: normal, decreased memory CD4, poor proliferation; B cells: low, mostly naive, few switched memory B cells, impaired proliferation; Recurrent infections with bacteria, mycobacteria, salmonella and opportunistic organisms; Defective innate immunity
Added publication referenced by IUIS december 2019 update
Created: 28 Feb 2020, 8:49 p.m. | Last Modified: 28 Feb 2020, 8:49 p.m.
Panel Version: 2.36
Publications for gene REL were updated from 32048120; 32086639 to 32086639; 31103457; 32048120
gene: REL was added gene: REL was added to Primary immunodeficiency. Sources: IUIS Classification December 2019 Mode of inheritance for gene: REL was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: REL were set to 32048120; 32086639 Phenotypes for gene: REL were set to Recurrent infections with bacteria, mycobacteria, salmonella and opportunistic infections; c-Rel deficiency; Immunodeficiencies affecting cellular and humoral immunity