Novel Rag1 mutations leading to Omenn Syndrome

Novel Rag1 mutations leading to Omenn Syndrome

Omenn syndrome is an autosomal recessive form of severe combined immune deficiency (SCID) featuring dermatitis, hepatosplenomegaly, lymphadenopathy, and increased susceptibility to infections, due to leaky impairment of the immunoglobulin and T cell receptor gene recombination apparatus.

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Bibliographische Detailangaben
Veröffentlicht in:Journal of allergy and clinical immunology 2005-02, Vol.115 (2), p.S77-S77
Hauptverfasser: Butte, M.J., Briggs, C.E., Bonilla, F.A.
Format: Artikel
Sprache:eng
Schlagworte:
Genes
Mutation
T cell receptors
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Beschreibung
Zusammenfassung:Omenn syndrome is an autosomal recessive form of severe combined immune deficiency (SCID) featuring dermatitis, hepatosplenomegaly, lymphadenopathy, and increased susceptibility to infections, due to leaky impairment of the immunoglobulin and T cell receptor gene recombination apparatus.
ISSN:0091-6749
1097-6825
DOI:10.1016/j.jaci.2004.12.322