H syndrome: A review of treatment options and a hypothesis of phenotypic variability-Reference-Cited by-同舟云学术

H syndrome: A review of treatment options and a hypothesis of phenotypic variability

Published:2021-08-16 Issue:5 Volume:34 Page:
ISSN:1396-0296
Container-title:Dermatologic Therapy
language:en
Short-container-title:Dermatologic Therapy

Author:

Nofal Hagar¹^ORCID,AlAkad Rania¹^ORCID,Nofal Ahmad¹^ORCID,Rabie Eman²³^ORCID,Chaikul Thithiwat⁴,Chiu Frank Po‐Chao⁴,Pramanik Rashida⁴,Alabdulkareem Ahmad⁴,Onoufriadis Alexandros⁴

Affiliation:

1. Dermatology Department, Faculty of Medicine Zagazig University Zagazig Egypt

2. Medical Molecular Genetics Department, Human Genetics and Genome Research Division National Research Centre (NRC) Cairo Egypt

3. Biotechnology Program, School of Sciences and Engineering The American University in Cairo (AUC) Cairo Egypt

4. St John's Institute of Dermatology, School of Basic and Medical Biosciences King's College London London UK

Funder

NIHR Biomedical Research Centre, Royal Marsden NHS Foundation Trust/Institute of Cancer Research

Publisher

Wiley

Subject

Dermatology,General Medicine

Link

https://onlinelibrary.wiley.com/doi/pdf/10.1111/dth.15082

Reference20 articles.

1. H syndrome: The first 79 patients

2. Equilibrative Nucleoside Transporter 3 Deficiency Perturbs Lysosome Function and Macrophage Homeostasis

3. Adult stem cell deficits drive Slc29a3 disorders in mice

4. Macrophages in Tissue Repair, Regeneration, and Fibrosis

5. Identification of Two Novel Mutations inSLC29A3Encoding an Equilibrative Nucleoside Transporter (hENT3) in Two Distinct Syrian Families with H Syndrome: Expression Studies ofSLC29A3(hENT3) in Human Skin

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1. H syndrome: Infantile onset diabetes as presentation of this rare auto-inflammatory syndrome;Journal of Clinical and Translational Endocrinology: Case Reports;2024-06

2. Clinical Progression and Manifestations of H Syndrome: A Case Report of Failed Treatment Option;American Journal of Case Reports;2024-04-16

3. Loss of function of ENT3 drives histiocytosis and inflammation through TLR-MAPK signaling;Blood;2023-11-16

4. H syndrome treated with Tocilizumab: two case reports and literature review;Frontiers in Immunology;2023-08-11

5. The SLC29A3 variant, neutrophilic dermatosis, and hyperferritinemia imitate systemic juvenile idiopathic arthritis in a Saudi child: a case report;Journal of Rheumatic Diseases;2023-01-13