Combined Immunodeficiency
Gene: RAG2
Omenn syndrome
3 unrelated individuals; two mouse models
Individuals typically presented with severe combined immunodeficiency associated with erythrodermia, eosinophilia, hepatosplenomegaly, lymphadenopathy, and elevated serum IgE levels.
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Severe combined immunodeficiency, B cell-negative
8 individuals from 7 unrelated families; two mouse models
Individuals typically presented with failure to thrive, recurrent infections, diarrhoea and severe T cell and B cell immunodeficiency
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Combined cellular and humoral immune defects with granulomas
1 individual; Compound heterozygous for missense variants (G451A and T77N), which were identified heterozygous in the parents; variants had not been previously reported.
The individual presented with hypogammaglobulinaemia, decreased numbers of T and B cells, splenomegaly and granulomatous disease involving the internal organs (spleen).
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Homozygous and Compound heterozygous (Missense, nonsense and del) variants have were reported in all disease phenotypes, leading to premature termination and loss of function; same variants were seen across multiple disease phenotypes
Green- Omenn syndrome
Green- Severe combined immunodeficiency, B cell-negative
Red- Combined cellular and humoral immune defects with granulomasCreated: 24 Aug 2021, 2:55 a.m. | Last Modified: 24 Aug 2021, 2:55 a.m.
Panel Version: 0.365
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Omenn syndrome MIM# 603554; Severe combined immunodeficiency, B cell-negative MIM# 601457; Combined cellular and humoral immune defects with granulomas MIM# 233650
Publications
Gene: rag2 has been classified as Green List (High Evidence).
Phenotypes for gene: RAG2 were changed from to Omenn syndrome MIM# 603554; Severe combined immunodeficiency, B cell-negative MIM# 601457; Combined cellular and humoral immune defects with granulomas MIM# 233650
Publications for gene: RAG2 were set to
Mode of inheritance for gene: RAG2 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
gene: RAG2 was added gene: RAG2 was added to Combined immunodeficiency_MelbourneGenomics_AustralianGenomics_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services,Melbourne Genomics Health Alliance Immunology Flagship Mode of inheritance for gene: RAG2 was set to Unknown