Omenn syndrome

Omenn syndrome in 5 months old child.

Omenn syndrome (Familial reticuloendotheliosis with eosinophilia, Severe combined immunodeficiency with hypereosinophilia, OMIM: 603554) is an autosomal recessive genetic disorder caused by the mutations of the genes RAG1 (recombination-activating gene 1, 11p13), RAG2 (recombination-activating gene 2, 11p13) or Artemis (DNA cross-link repair protein 1C; DCLRE1C, 10p). The syndrome is characterised by the skin and intestinal mucosa (endothelium) infiltration by the activated oligoclonal T-lymphocytes. Besides the eosinophilia (which is caused by the T-lymphocytes producing the IL-4 and IL-5 interleukins) in patients also occurs skin disorders of different ranges (erythroderma), hepatosplenomegaly and severe diarrhea.

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Related articles

• Primary immunodeficiency
• Severe combined immunodeficiency
• Erythroderma

Source

• ŠÍPEK, Antonín. Geneticky podmíněné poruchy imunitního systému [online]. The last revision 9. 6. 2006, [cit. 16. 12. 2009]. <http://www.genetika-biologie.cz/primarni-imunodeficience>.

Bibliography

• BARTŮŇKOVÁ, Jiřina. Imunodeficience. 1. edition. Praha : Grada, 2002. 228 pp. ISBN 80-247-0244-4.