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Clinical and molecular profile of 20 patients with DOCK8 deficiency-a single-center experience from Southern India.

Immunologic research - 12 Dec 2024

Singh Neha, Ranganath Priya, Jayaram Ananthvikas, Jhawar Prerna, Kotecha Udhaya, Janardhanan Jyothi, Kumar Harish, Sudheer K A, Ali Syed Mohammed Naushad, Arigela Karthik, Ginigeri Chetan, Bhattad Sagar

Abstract excerpt

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. To study the clinical and molecular profile of 20 patients with DOCK8 deficiency. Four hundred and eight patients with various inborn errors of immunity (IEIs) were diagnosed in the Pediatric Immunology Unit of...

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Identifiers

PMID: 39666233
DOI: 10.1007/s12026-024-09571-9

Genes

DOCK8
AR

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