2023
DOI: 10.21203/rs.3.rs-3134880/v1
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Clinical and molecular profile of 17 patients with DOCK8 deficiency: A single-centre experience from Southern India

Abstract: Introduction DOCK8 deficiency is the most common cause of autosomal recessive Hyper IgE syndrome (AR-HIES). The clinical spectrum is wide resulting in combined immunodeficiency, atopy, autoimmunity, and malignancies. Objectives To study the clinical and molecular profile of 17 patients with DOCK8 deficiency. Methods Three hundred sixty patients with various Inborn errors of Immunity (IEIs) were diagnosed in the Pediatric Immunology Unit of our hospital during the study period of February 2017 to April 2023. Ba… Show more

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