Combined Immunodeficiency

Gene: REL

Green List (high evidence)

2x unrelated patients reported with extensive functional validation.

Created: 12 Sep 2023, 3:12 a.m. | Last Modified: 12 Sep 2023, 3:12 a.m.

Panel Version: 1.43

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Immunodeficiency 92, MIM# 619652; 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

Publications

• PMID: 34623332

I don't know

Second unrelated individual reported, with a different homozygous splice site variant.

Immunodeficiency-92 (IMD92) is an autosomal recessive primary immunodeficiency characterized by the onset of recurrent infections in infancy or early childhood. Infectious agents are broad, including bacterial, viral, fungal, and parasitic, including Cryptosporidium and Mycobacteria. Patient lymphocytes show defects in both T- and B-cell proliferation, cytokine secretion, and overall function, and there is also evidence of dysfunction of NK, certain antigen-presenting cells, and myeloid subsets.

Created: 15 Dec 2021, 7:29 a.m. | Last Modified: 15 Dec 2021, 7:29 a.m.

Panel Version: 1.1

Single individual from consanguineous family reported with homozygous canonical splice site variant, no functional data.
Sources: Expert list

Created: 3 Apr 2020, 7:10 a.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Immunodeficiency 92, MIM# 619652; 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

Publications

• 31103457
• 34623332