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RFXANK deficiency

Tuesday 10 April 2012

Pathology

- RFXANK deficiency

References

- Major histocompatibility complex class II expression deficiency caused by a RFXANK founder mutation: a survey of 35 patients. Ouederni M, Vincent QB, Frange P, Touzot F, Scerra S, Bejaoui M, Bousfiha A, Levy Y, Lisowska-Grospierre B, Canioni D, Bruneau J, Debré M, Blanche S, Abel L, Casanova JL, Fischer A, Picard C. Blood. 2011 Nov 10;118(19):5108-18. PMID: #21908431#