PMID- 36312485
OWN - NLM
STAT- PubMed-not-MEDLINE
LR  - 20221102
IS  - 2307-8960 (Print)
IS  - 2307-8960 (Electronic)
IS  - 2307-8960 (Linking)
VI  - 10
IP  - 29
DP  - 2022 Oct 16
TI  - Eczema herpeticum vs dermatitis herpetiformis as a clue of dedicator of 
      cytokinesis 8 deficiency diagnosis: A case report.
PG  - 10735-10741
LID - 10.12998/wjcc.v10.i29.10735 [doi]
AB  - BACKGROUND: 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. CASE SUMMARY: 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. CONCLUSION: Targeted gene testing with CNV analysis might detect 
      deletions that can be missed by WES for diagnosing patients with PID.
CI  - (c)The Author(s) 2022. Published by Baishideng Publishing Group Inc. All rights 
      reserved.
FAU - Alshengeti, Amer
AU  - Alshengeti A
AD  - 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. 
      aalshengeti@dal.ca.
LA  - eng
PT  - Case Reports
PL  - United States
TA  - World J Clin Cases
JT  - World journal of clinical cases
JID - 101618806
PMC - PMC9602220
OTO - NOTNLM
OT  - Case report
OT  - Dedicator of cytokinesis 8
OT  - Immunoglobulin E
OT  - Infections
OT  - Whole-exome sequencing
COIS- Conflict-of-interest statement: The author declares no conflict of interest.
EDAT- 2022/11/01 06:00
MHDA- 2022/11/01 06:01
PMCR- 2022/10/16
CRDT- 2022/10/31 04:39
PHST- 2022/05/27 00:00 [received]
PHST- 2022/08/10 00:00 [revised]
PHST- 2022/09/08 00:00 [accepted]
PHST- 2022/10/31 04:39 [entrez]
PHST- 2022/11/01 06:00 [pubmed]
PHST- 2022/11/01 06:01 [medline]
PHST- 2022/10/16 00:00 [pmc-release]
AID - 10.12998/wjcc.v10.i29.10735 [doi]
PST - ppublish
SO  - World J Clin Cases. 2022 Oct 16;10(29):10735-10741. doi: 
      10.12998/wjcc.v10.i29.10735.