Skip to main content
Key Specialties
Cardiology Diabetology Endocrinology Gastroenterology Geriatrics and Gerontology Gynecology and Obstetrics Hematology Infectious Disease Internal Medicine Nephrology Neurology Oncology Pediatrics Respiratory Medicine Rheumatology Surgery
Congress Coverage
2024 ACC Congress 2023 ESMO Congress 2023 EASD Congress 2023 ERS Congress 2023 ESC Congress 2023 EHA Congress 2023 ASCO Annual Meeting
Clinical Collections
Advances in Alzheimer’s

Keynote webinar | Spotlight on sleep in brain health

LIVE: Thursday 2nd May 2024, 18:00-19:30 (CEST)

Quality sleep is essential for health. But what happens to our brains when sleep patterns are disturbed? Join our experts to explore the interplay between sleep disruption and neurological diseases, and the questions that you need to be asking your patients to help you prevent the harmful effects of sleep deprivation.
ADVANCED SEARCH
Log in
Top
Journal of Clinical Immunology
Published in: Journal of Clinical Immunology 3/2021

01-04-2021 | Mites | Letter to Editor

Pediatric Demodicosis Associated with Gain-of-Function Variant in STAT1 Presenting as Rosacea-Type Rash

Authors: Bouchra Baghad, Fatima Zahra El Fatoiki, Ibtihal Benhsaien, Ahmed Aziz Bousfiha, Anne Puel, Mélanie Migaud, Soumiya Chiheb, Fatima Ailal

Published in: Journal of Clinical Immunology | Issue 3/2021

Login to get access

Excerpt

To the Editor, …
Literature
1.
Puel A. Human inborn errors of immunity underlying superficial or invasive candidiasis. Hum Genet. 2020;139:1011–22.CrossRef
2.
Liu L, Okada S, Kong X-F, Kreins AY, Cypowyj S, Abhyankar A, et al. Gain-of-function human STAT1 mutations impair IL-17 immunity and underlie chronic mucocutaneous candidiasis. J Exp Med. 2011;208:1635–48.CrossRef
3.
van de Veerdonk FL, Plantinga TS, Hoischen A, Smeekens SP, Joosten LAB, Gilissen C, et al. STAT1 mutations in autosomal dominant chronic mucocutaneous candidiasis. N Engl J Med. 2011;365:54–61.CrossRef
4.
Toubiana J, Okada S, Hiller J, Oleastro M, Lagos Gomez M, Aldave Becerra JC, et al. Heterozygous STAT1 gain-of-function mutations underlie an unexpectedly broad clinical phenotype. Blood. 2016;127:3154–64.CrossRef
5.
Douglas A, Zaenglein AL. A case series of demodicosis in children. Pediatr Dermatol. 2019;36:651–4.CrossRef
6.
Forton FMN, De Maertelaer V. Papulopustular rosacea and rosacea-like demodicosis: two phenotypes of the same disease? J Eur Acad Dermatol Venereol. 2018;32:1011–6.CrossRef
7.
Molho-Pessach V, Meltser A, Kamshov A, Ramot Y, Zlotogorski A. STAT1 gain-of-function and chronic demodicosis. Pediatr Dermatol. 2020;37:153–5.CrossRef
8.
Sáez-de-Ocariz M, Suárez-Gutiérrez M, Migaud M, Farrill-Romanillos PO, Casanova JL, Segura-Mendez NH, et al. Rosacea as a striking feature in family members with a STAT1 gain-of-function mutation. J Eur Acad Dermatol Venereol. 2020;34:e265–7.
9.
Second J, Korganow A-S, Jannier S, Puel A, Lipsker D. Rosacea and demodicidosis associated with gain-of-function mutation in STAT1. J Eur Acad Dermatol Venereol. 2017;31:e542–4.CrossRef
10.
on behalf of the ACMG Laboratory Quality Assurance Committee, Richards S, Aziz N, Bale S, Bick D, Das S, et al. Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology. Genet Med. 2015;17:405–23.CrossRef
11.
Barrio J, Lecona M, Hernanz JM, Sánchez M, Gurbindo MD, Lázaro P, et al. Rosacea-like demodicosis in an HIV-positive child. Dermatology. 1996;192:143–5.CrossRef
12.
Scard C, Thomas C, Puel A, Vabres B, Aubert H, Barbarot S. Dermatoses faciales chroniques de type rosacée chez des enfants porteurs d’un déficit immunitaire primitif par mutation de gain de fonction STAT1. Ann Dermatol Venereol. 2018;145:S204–5.CrossRef
13.
Jacob S, VanDaele MA, Brown JN. Treatment of Demodex-associated inflammatory skin conditions: a systematic review. Dermatol Ther. 2019;32:e13103.CrossRef
Metadata
Title
Pediatric Demodicosis Associated with Gain-of-Function Variant in STAT1 Presenting as Rosacea-Type Rash
Authors
Bouchra Baghad
Fatima Zahra El Fatoiki
Ibtihal Benhsaien
Ahmed Aziz Bousfiha
Anne Puel
Mélanie Migaud
Soumiya Chiheb
Fatima Ailal
Publication date
01-04-2021
Publisher
Springer US
Published in
Journal of Clinical Immunology / Issue 3/2021
Print ISSN: 0271-9142
Electronic ISSN: 1573-2592
DOI
https://doi.org/10.1007/s10875-020-00942-z

Other articles of this Issue 3/2021

Journal of Clinical Immunology 3/2021 Go to the issue

Original Article

The Ever-Increasing Array of Novel Inborn Errors of Immunity: an Interim Update by the IUIS Committee

Publisher Correction

Correction to: TREC Screening for WHIM Syndrome

Original Article

Plasma Exchange to Rescue Patients with Autoantibodies Against Type I Interferons and Life-Threatening COVID-19 Pneumonia

Original Article

Serum Sp17 Autoantibody Serves as a Potential Specific Biomarker in Patients with SAPHO Syndrome

Original Article

Inherited GATA2 Deficiency Is Dominant by Haploinsufficiency and Displays Incomplete Clinical Penetrance

Original Article

Liver Abscess in Chronic Granulomatous Disease—Two Decades of Experience from a Tertiary Care Centre in North-West India

ACC 2024 Congress Coverage

Cardiology Video

Highlights from the ACC 2024 Congress

Watch now

Watch official videos from the ACC congress summarizing key highlights from the last year in heart failure, cardiomyopathies, valvular disease, pulmonary vascular disease, and pediatric cardiology.

Semaglutide benefits people with type 2 diabetes and obesity-related heart failure

16-04-2024 Type 2 Diabetes News

Incentivised to exercise

11-04-2024 Lifestyle Modifications News

New intervention for STEMI-related cardiogenic shock

10-04-2024 Myocardial Infarction News

» View more highlights on the ACC 2024 congress hub page

Image Credits