Generic selectors
Exact matches only
Search in title
Search in content
Post Type Selectors
Search in posts
Search in pages
Filter by Categories
15th National Conference of the IAOMFP, Chennai, 2006
Abstract
Abstracts from current literature
Acne in India: Guidelines for management - IAA Consensus Document
Addendum
Announcement
Art & Psychiatry
Article
Articles
Association Activities
Association Notes
Award Article
Book Review
Brief Report
Case Analysis
Case Letter
Case Letters
Case Notes
Case Report
Case Reports
Clinical and Laboratory Investigations
Clinical Article
Clinical Studies
Clinical Study
Commentary
Conference Oration
Conference Summary
Continuing Medical Education
Correspondence
Corrigendum
Cosmetic Dermatology
Cosmetology
Current Best Evidence
Current Issue
Current View
Derma Quest
Dermato Surgery
Dermatopathology
Dermatosurgery Specials
Dispensing Pearl
Do you know?
Drug Dialogues
e-IJDVL
Editor Speaks
Editorial
Editorial Remarks
Editorial Report
Editorial Report - 2007
Editorial report for 2004-2005
Errata
Erratum
Focus
Fourth All India Conference Programme
From Our Book Shelf
From the Desk of Chief Editor
General
Get Set for Net
Get set for the net
Guest Article
Guest Editorial
History
How I Manage?
IADVL Announcement
IADVL Announcements
IJDVL Awards
IJDVL AWARDS 2015
IJDVL Awards 2018
IJDVL Awards 2019
IJDVL Awards 2020
IJDVL International Awards 2018
Images in Clinical Practice
In Memorium
Inaugural Address
Index
Knowledge From World Contemporaries
Leprosy Section
Letter in Response to Previous Publication
Letter to Editor
Letter to the Editor
Letter to the Editor - Case Letter
Letter to the Editor - Letter in Response to Published Article
LETTER TO THE EDITOR - LETTERS IN RESPONSE TO PUBLISHED ARTICLES
Letter to the Editor - Observation Letter
Letter to the Editor - Study Letter
Letter to the Editor - Therapy Letter
Letter to the Editor: Articles in Response to Previously Published Articles
Letters in Response to Previous Publication
Letters to the Editor
Letters to the Editor - Letter in Response to Previously Published Articles
Letters to the Editor: Case Letters
Letters to the Editor: Letters in Response to Previously Published Articles
Medicolegal Window
Messages
Miscellaneous Letter
Musings
Net Case
Net case report
Net Image
Net Images
Net Letter
Net Quiz
Net Study
New Preparations
News
News & Views
Obituary
Observation Letter
Observation Letters
Oration
Original Article
ORIGINAL CONTRIBUTION
Original Contributions
Pattern of Skin Diseases
Pearls
Pediatric Dermatology
Pediatric Rounds
Perspective
Presedential Address
Presidential Address
Presidents Remarks
Quiz
Recommendations
Regret
Report
Report of chief editor
Report of Hon : Treasurer IADVL
Report of Hon. General Secretary IADVL
Research Methdology
Research Methodology
Resident page
Resident's Page
Resident’s Page
Residents' Corner
Residents' Corner
Residents' Page
Retraction
Review
Review Article
Review Articles
Reviewers 2022
Revision Corner
Self Assessment Programme
SEMINAR
Seminar: Chronic Arsenicosis in India
Seminar: HIV Infection
Short Communication
Short Communications
Short Report
Snippets
Special Article
Specialty Interface
Studies
Study Letter
Study Letters
Supplement-Photoprotection
Supplement-Psoriasis
Symposium - Contact Dermatitis
Symposium - Lasers
Symposium - Pediatric Dermatoses
Symposium - Psoriasis
Symposium - Vesicobullous Disorders
SYMPOSIUM - VITILIGO
Symposium Aesthetic Surgery
Symposium Dermatopathology
Symposium-Hair Disorders
Symposium-Nails Part I
Symposium-Nails-Part II
Systematic Review and Meta-Analysis
Systematic Reviews and Meta-analyses
Systematic Reviews and Meta-analysis
Tables
Technology
Therapeutic Guideline-IADVL
Therapeutic Guidelines
Therapeutic Guidelines - IADVL
Therapeutics
Therapy
Therapy Letter
Therapy Letters
View Point
Viewpoint
What’s new in Dermatology
Generic selectors
Exact matches only
Search in title
Search in content
Post Type Selectors
Search in posts
Search in pages
Filter by Categories
15th National Conference of the IAOMFP, Chennai, 2006
Abstract
Abstracts from current literature
Acne in India: Guidelines for management - IAA Consensus Document
Addendum
Announcement
Art & Psychiatry
Article
Articles
Association Activities
Association Notes
Award Article
Book Review
Brief Report
Case Analysis
Case Letter
Case Letters
Case Notes
Case Report
Case Reports
Clinical and Laboratory Investigations
Clinical Article
Clinical Studies
Clinical Study
Commentary
Conference Oration
Conference Summary
Continuing Medical Education
Correspondence
Corrigendum
Cosmetic Dermatology
Cosmetology
Current Best Evidence
Current Issue
Current View
Derma Quest
Dermato Surgery
Dermatopathology
Dermatosurgery Specials
Dispensing Pearl
Do you know?
Drug Dialogues
e-IJDVL
Editor Speaks
Editorial
Editorial Remarks
Editorial Report
Editorial Report - 2007
Editorial report for 2004-2005
Errata
Erratum
Focus
Fourth All India Conference Programme
From Our Book Shelf
From the Desk of Chief Editor
General
Get Set for Net
Get set for the net
Guest Article
Guest Editorial
History
How I Manage?
IADVL Announcement
IADVL Announcements
IJDVL Awards
IJDVL AWARDS 2015
IJDVL Awards 2018
IJDVL Awards 2019
IJDVL Awards 2020
IJDVL International Awards 2018
Images in Clinical Practice
In Memorium
Inaugural Address
Index
Knowledge From World Contemporaries
Leprosy Section
Letter in Response to Previous Publication
Letter to Editor
Letter to the Editor
Letter to the Editor - Case Letter
Letter to the Editor - Letter in Response to Published Article
LETTER TO THE EDITOR - LETTERS IN RESPONSE TO PUBLISHED ARTICLES
Letter to the Editor - Observation Letter
Letter to the Editor - Study Letter
Letter to the Editor - Therapy Letter
Letter to the Editor: Articles in Response to Previously Published Articles
Letters in Response to Previous Publication
Letters to the Editor
Letters to the Editor - Letter in Response to Previously Published Articles
Letters to the Editor: Case Letters
Letters to the Editor: Letters in Response to Previously Published Articles
Medicolegal Window
Messages
Miscellaneous Letter
Musings
Net Case
Net case report
Net Image
Net Images
Net Letter
Net Quiz
Net Study
New Preparations
News
News & Views
Obituary
Observation Letter
Observation Letters
Oration
Original Article
ORIGINAL CONTRIBUTION
Original Contributions
Pattern of Skin Diseases
Pearls
Pediatric Dermatology
Pediatric Rounds
Perspective
Presedential Address
Presidential Address
Presidents Remarks
Quiz
Recommendations
Regret
Report
Report of chief editor
Report of Hon : Treasurer IADVL
Report of Hon. General Secretary IADVL
Research Methdology
Research Methodology
Resident page
Resident's Page
Resident’s Page
Residents' Corner
Residents' Corner
Residents' Page
Retraction
Review
Review Article
Review Articles
Reviewers 2022
Revision Corner
Self Assessment Programme
SEMINAR
Seminar: Chronic Arsenicosis in India
Seminar: HIV Infection
Short Communication
Short Communications
Short Report
Snippets
Special Article
Specialty Interface
Studies
Study Letter
Study Letters
Supplement-Photoprotection
Supplement-Psoriasis
Symposium - Contact Dermatitis
Symposium - Lasers
Symposium - Pediatric Dermatoses
Symposium - Psoriasis
Symposium - Vesicobullous Disorders
SYMPOSIUM - VITILIGO
Symposium Aesthetic Surgery
Symposium Dermatopathology
Symposium-Hair Disorders
Symposium-Nails Part I
Symposium-Nails-Part II
Systematic Review and Meta-Analysis
Systematic Reviews and Meta-analyses
Systematic Reviews and Meta-analysis
Tables
Technology
Therapeutic Guideline-IADVL
Therapeutic Guidelines
Therapeutic Guidelines - IADVL
Therapeutics
Therapy
Therapy Letter
Therapy Letters
View Point
Viewpoint
What’s new in Dermatology
View/Download PDF

Translate this page into:

Case Letter
ARTICLE IN PRESS
doi:
10.25259/IJDVL_348_2023

Omalizumab and dupilumab for the treatment of autosomal-recessive DOCK8 hyper-IgE syndrome

Department of Dermatology and Venereology, The first affiliated Hospital of Guangxi Medical University, Guangxi, China
Corresponding author: Dr. Youkun Lin, Department of Dermatology and Venereology, The first affiliated Hospital of Guangxi Medical University, Nanning-530022, Guangxi, China. linyoukun7@aliyun.com
Licence
This is an open-access article distributed under the terms of the Creative Commons Attribution-Non Commercial-Share Alike 4.0 License, which allows others to remix, transform, and build upon the work non-commercially, as long as the author is credited and the new creations are licensed under the identical terms.

How to cite this article: Guo T, Wei L, Karki S, Wen S, Li Q, Lin Y. Omalizumab and dupilumab for the treatment of autosomal-recessive DOCK8 hyper-IgE syndrome. Indian J Dermatol Venereol Leprol doi: 10.25259/IJDVL_348_2023

Dear Editor,

We present an 11-year-old boy with autosomal-recessive DOCK8 hyper-IgE syndrome who underwent treatment with both omalizumab and dupilumab. The patient had a recurrent oral mass for 5 years and atopic dermatitis for 2 years, despite treatment with topical and systemic steroids and oral antihistamines. He also gave history of recurrent pneumonia and abdominal abscess. Physical examination revealed a granulomatous mass in the right buccal mucosa, accompanied by missing teeth, widespread erythematous papules, xerosis, and hyperpigmentation [Figures 1a, 1b and 1c]. A skin biopsy confirmed widespread dermal granulomas composed of histiocytes, lymphocytes, and eosinophilic granulocytes in the superficial and mid dermis. [Figures 1d and 1e]. Genetic analysis indicated a homozygous deletion in exons 2–11 of the DOCK8 gene, confirming the diagnosis of autosomal-recessive hyper-IgE syndrome with elevated serum IgE levels at 7591.2 IU/mL (normal range: 0–100 IU/mL).

Figure 1a
Granulomatosis-like mass in the right buccal mucosa before treatment
Figure 1b
Erythema and xerosis on the forehead and eyelids before treatment
Figure 1c
Erythema and xerosis on the trunk and upper limbs before treatment
Figure 1d
A skin biopsy from the oral nodule showing significant infiltration of histocytes, lymphocytes, and eosinophilic granulocytes in the superficial mid-layer of the dermis, consistent with cutaneous granulomatosis (haematoxylin and eosin stain, original magnification × 40)
Figure 1e
A skin biopsy from the oral nodule showing a significant infiltration of histocytes, lymphocytes, and eosinophilic granulocytes in the superficial mid-layer of the dermis, consistent with cutaneous granulomatosis (haematoxylin and eosin stain, original magnification × 400)

Despite intensive care and preventive anti-infective measures, patient’s symptoms persisted. Omalizumab was administered (300 mg subcutaneously every 4 weeks) on August 25, 2021, and September 26, 2021. However, there was no significant symptomatic improvement or reduction in IgE levels until November 9, 2021 (7049.5 IU/mL). Given the patient’s severe symptoms, the fact that the eczematous lesions improved almost two months after initiating omalizumab, 1 and the family’s request for alternate treatment, the patient was switched to dupilumab on November 10, 2021 (300 mg subcutaneously every 4 weeks). After 8 weeks of dupilumab treatment, we observed significant improvement in atopic dermatitis and complete resolution of the granulomatous mass. [Figures 2a, 2b and 2c]. IgE levels reduced to 161.5 IU/mL. Monthly dupilumab injections effectively controlled and stabilized the symptoms until October 9, 2022, followed by subsequent recurrence of the oral granulomatosis-like mass when the injection interval was extended to 1.5 months. The patient has remained recurrence-free since returning to monthly injections.

Figure 2a
Granulomatosis-like mass in the right buccal mucosa disappeared after 8 weeks of dupilumab therapy.
Figure 2b
Erythema and xerosis on the forehead and eyelids disappeared after 8 weeks of dupilumab therapy.
Figure 2c
Erythema and xerosis on the trunk and upper limbs disappeared after 8 weeks of dupilumab therapy.

Autosomal-recessive hyper-IgE syndrome is a rare immunodeficiency disorder resulting from DOCK8 defects. It is characterised by recurrent high serum IgE, refractory atopic dermatitis, cutaneous and respiratory infections, and an increased risk of early malignant tumours. 2 While there is no established treatment paradigm for hyper-IgE syndrome, biological formulations like omalizumab and dupilumab have shown potential for alleviating symptoms. 24.

Omalizumab, a humanized recombinant anti-IgE antibody, is beneficial in patients with hyper-IgE syndrome. 4 However, the present patient used it for less than three months, precluding a comprehensive assessment of the drug’s response. In contrast, dupilumab, a fully humanised IgG4 monoclonal antibody, impedes downstream signalling of IL-4/13 cytokines by binding to the alpha-subunit of the IL-4R and IL-13R, leading to reduced IgE production and relief from Th2 cell-mediated disease. 3 Substantial evidence suggests that Th2-mediated IL-4/13 signals play a role in autosomal-recessive hyper-IgE syndrome. 2 Successful treatment of the present patient with dupilumab further bolsters this perspective.

We further observed that dupilumab was effective in decreasing the granulomatosis in the present patient. This suggests that dupilumab may enhance the host’s ability to resist pathogenic microbiological infections by immune response regulation. However, further studies are needed to fully comprehend the underlying mechanism.

Limitation of the present report is the short washout period between omalizumab and dupilumab. The half-life of serum elimination for omalizumab is 24 days, and clinical trials typically necessitate a washout period of four half-lives. However, in this case, such a prolonged washout period was not feasible.

In summary, the patient’s symptoms improved and his recurrence was arrested after switching to dupilumab, suggesting its effectiveness in hyper IgE syndrome.

Declaration of patient consent

The authors certify that they have obtained all appropriate patient consent.

Financial support and sponsorship

Nil.

Conflict of interest

There are no conflict of interest.

References

  1. , , , , . Role of omalizumab in a patient with hyper-IgE syndrome and review dermatologic manifestations. Asian Pac J Allergy Immunol. 2009;27:233-6.
    [PubMed] [Google Scholar]
  2. , , , , , . Treatment options for DOCK8 deficiency-related severe dermatitis. J Dermatol. 2021;48:1386-93.
    [CrossRef] [PubMed] [Google Scholar]
  3. , , , , , . Clearance of atypical cutaneous manifestations of hyper-IgE syndrome with dupilumab. Pediatr Dermatol. 2022;39:940-2.
    [CrossRef] [PubMed] [PubMed Central] [Google Scholar]
  4. , , , , , . Omalizumab for STAT3 hyper-IgE syndromes in adulthood: A case report and literature review. Front Med (Lausanne). 2022;9:835257.
    [CrossRef] [PubMed] [PubMed Central] [Google Scholar]

Fulltext Views
1,507

PDF downloads
22
View/Download PDF
Download Citations
BibTeX
RIS
Show Sections