Omenn syndrome caused by a novel homozygous mutation in recombination activating gene 1
Ibtihal Benhsaien, Soukaina Essadssi, Lamiae Elkhattabi, Amina Bakhchane, Houria Abdelghaffar, Ahmed Aziz Bousfiha, Abdallah Badou, Abdelhamid Barakat
Abstract
Ibtihal Benhsaien, Soukaina Essadssi, Lamiae Elkhattabi, Amina Bakhchane, Houria Abdelghaffar, Ahmed Aziz Bousfiha, Abdallah Badou, Abdelhamid Barakat
Abstract
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Key concepts: Hepatosplenomegaly, RAG2, Erythroderma, Failure to thrive, Severe combined immunodeficiency, Recombination-activating gene, Immunodeficiency, Biology