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Article

DOCK8 Deficiency Presenting as an IPEX-Like Disorder.

Journal of clinical immunology - 1 Nov 2017

Alroqi Fayhan J, Charbonnier Louis-Marie, Keles Sevgi, Ghandour Fatima, Mouawad Pierre, Sabouneh Rami, Mohammed Reem, Almutairi Abduarahman, Chou Janet, Massaad Michel J, Geha Raif S, Baz Zeina, Chatila Talal A

Abstract excerpt

PURPOSE: The dedicator of cytokinesis 8 (DOCK8) deficiency is an autosomal recessive-combined immunodeficiency whose clinical spectra include recurrent infections, autoimmunity, malignancies, elevated serum IgE, eczema, and food allergies. Here, we report on patients with loss of function DOCK8 mutations with profound immune dysregulation suggestive of an immune dysregulation, polyendocrinopathy, enteropathy,...

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Source

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Identifiers

PMID: 29058101
DOI: 10.1007/s10875-017-0451-1
PMCID: PMC5691358

Genes

DOCK8

Variants

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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