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Novel Variants of DOCK8 Deficiency in a Case Series of Iranian Patients.

Endocrine, metabolic & immune disorders drug targets - 1 Jan 2022

Momtazmanesh Sara, Rayzan Elham, Zoghi Samaneh, Shahkarami Sepideh, Molatefi Rasol, Mohammadzadeh Iraj, Ghaffari Javad, Mahmoudi Hamidreza, Dmytrus Jasmin, Segarra-Roca Anna, Somekh Ido, Witzel Maximilian, Hauck Fabian, Boztug Kaan, Klein Christoph, Rezaei Nima

Abstract excerpt

BACKGROUND: Dedicator of Cytokinesis 8 (DOCK8) deficiency, the most frequent cause of autosomal recessive hyper immunoglobulin (Ig)E syndrome, is a rare combined immunodeficiency. OBJECTIVE: In this study, we report seven patients, with consanguineous parents, with five novel variants within the DOCK8 gene. METHODS: For genetic analysis, we performed Whole Exome Sequencing (WES) or targeted sequencing by means of...

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PMID: 33634762
DOI: 10.2174/1871530321666210226143912

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