Combined Immunodeficiency

Gene: RAG2

Green List (high evidence)

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 granulomas

Created: 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

• 9630231
• 11313270
• 31885011
• 8810255
• 15025726
• 18463379