Case Report
Copyright ©The Author(s) 2022. Published by Baishideng Publishing Group Inc. All rights reserved.
World J Clin Cases. Oct 16, 2022; 10(29): 10735-10741
Published online Oct 16, 2022. doi: 10.12998/wjcc.v10.i29.10735
Eczema herpeticum vs dermatitis herpetiformis as a clue of dedicator of cytokinesis 8 deficiency diagnosis: A case report
Amer Alshengeti
Amer Alshengeti, Department of Pediatrics, College of Medicine, Taibah University; Department of Infection prevention and control, Prince Mohammad Bin Abdulaziz Hospital, National Guard Health Affairs, Al-Madinah 41491, Saudi Arabia
Author contributions: Alshengeti A has prepared and finalized the whole manuscript.
Informed consent statement: This case report was approved by the Research Ethics Board of King Abdullah International Medical Research Center (KAIMRC), National Guard Health Affairs (NGHA), Ministry of National Guard, Jeddah, Saudi Arabia. Written informed consent was obtained from the patient’s father.
Conflict-of-interest statement: The author declares no conflict of interest.
CARE Checklist (2016) statement: The authors have read the CARE Checklist (2016), and the manuscript was prepared and revised according to the CARE Checklist (2016).
Open-Access: This article is an open-access article that was selected by an in-house editor and fully peer-reviewed by external reviewers. It is distributed in accordance with the Creative Commons Attribution NonCommercial (CC BY-NC 4.0) license, which permits others to distribute, remix, adapt, build upon this work non-commercially, and license their derivative works on different terms, provided the original work is properly cited and the use is non-commercial. See:
Corresponding author: Amer Alshengeti, MD, Assistant Professor, Department of Pediatrics, College of Medicine, Taibah University, Al-Qiblatain District, P.O. BOX 4495, Al-Madinah 41491, Saudi Arabia.
Received: May 27, 2022
Peer-review started: May 27, 2022
First decision: July 12, 2022
Revised: August 10, 2022
Accepted: September 8, 2022
Article in press: September 8, 2022
Published online: October 16, 2022

Dedicator of cytokinesis 8 (DOCK 8) deficiency, also known as autosomal recessive hyper immunoglobulin E (IgE) syndrome, is a combined immunodeficiency disease that was first recognized in 2009. It is caused by genetic alterations (mutations or deletions) in the DOCK 8 gene and is characterized by multiple allergies, elevated IgE levels, and susceptibility to viral and bacterial infections. Early diagnosis is critical to optimize the success of stem cell transplantation.


This study reports the case of a pediatric patient with DOCK 8 deficiency who had negative genetic testing using multiplex primary immunodeficiency (PID) panel and whole-exome sequencing (WES) with a next-generation sequencing method. He presented with chronic diarrhea and was managed as celiac disease based on previous negative workup for immunodeficiency and duodenal biopsy. He developed a generalized vesicular rash which was thought to be dermatitis herpetiformis associated with celiac disease. However, it turned out to be Eczema herpeticum based on positive herpes simplex virus from blood and lesions. The diagnosis was re-evaluated after the child was found to have multiple viral, bacterial, and parasitic co-infections (herpes simplex virus, cytomegalovirus, Epstein-Barr virus, Salmonella, and cryptosporidiosis). Re-evaluation with target gene testing with copy number variation (CNV) analysis and Multiplex Ligation Probe Amplification (MLPA) showed a large homozygous deletion in the DOCK 8 gene, confirming the diagnosis of DOCK 8 deficiency.


Targeted gene testing with CNV analysis might detect deletions that can be missed by WES for diagnosing patients with PID.

Keywords: Immunoglobulin E, Whole-exome sequencing, Infections, Dedicator of cytokinesis 8, Case report

Core Tip: Diagnosis of primary immunodeficiency syndromes is challenging, especially those involving the innate immune system. Whole-exome sequencing (WES) is a promising method for diagnosis but has limitations. This article reports a case of delayed diagnosis of Dedicator of cytokinesis 8 deficiency based on negative WES results and highlights the importance of specific gene testing, when the clinical features are suggestive of specific disease, rather than depending on WES alone.