SCID, Omenn syndrome
2 ml EDTA blood
Verification of mutations in the RAG1 and RAG2 genes by PCR and subsequent sequencing
Mutation analysis for differential diagnosis
- in patients with numerical and/or functional impairment of the B- and T-lymphocyte system
- in infants and young children with recurrent, most severe infections
- in cases of familial clustering of SCID
According to the WHO classification of 2003, SCID (severe combined immunodeficiency) has been categorised as severe combined immune deficiency, which manifests itself early in infancy, and which is particularly characterised by the early appearance of opportunistic infections (CMV, Pneumocystis jirovecii pneumonia), severe diarrhoea, and failure to thrive, and which may be fatal within the first year of life, if left untreated. Both the B- and the T-lymphocyte systems in combination are affected by numerical and/or functional impairments. In general, bone marrow/stem cell transplantation represents the only successful treatment. If SCID is suspected, patients must not receive live vaccines and no non-irradiated blood products (see: www.Orphanet.net). SCID is caused by mutations in several genes. In some of the SCID patients, mutations in the "Recombination Activating Genes 1 and 2" (RAG1 or RAG2 gene) can be detected. These mutations play a role in the activation of the V(D)J recombination.
The RAG1 gene is located on the short arm of chromosome 11. Inheritance is autosomal recessive. So far, more than 79 different mutations in the RAG1 gene have been identified (The Human Gene Database, as of 02.2009). The RAG2 gene is located on the short arm of chromosome 11. Inheritance is autosomal recessive. So far, more than 20 different mutations in the RAG2 gene have been identified (The Human Gene Database, as of 02.2009). More than 95% of the mutations in the RAG1 and RAG2 genes can be reliably detected with the molecular genetic analysis.
The Omenn syndrome is an allelic form of SCID, and is also caused by mutations in the RAG1 or RAG2 genes. Clinically significant symptoms include: severe recurrent infections, and typical symptoms such as generalised erythroderma, alopecia, lymphadenopathy, and hepatosplenomegaly.
Last update: 18.06.2018
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