<scp>ROSAH</scp> syndrome mimicking chronic uveitis-Reference-Cited by-同舟云学术

ROSAH syndrome mimicking chronic uveitis

Published:2022-12-30 Issue:4 Volume:103 Page:453-458
ISSN:0009-9163
Container-title:Clinical Genetics
language:en
Short-container-title:Clinical Genetics

Author:

Fardeau Christine¹^ORCID,Alafaleq Munirah¹²,Dhaenens Claire‐Marie³,Dollfus Hélène⁴,Koné‐Paut Isabelle⁵,Grunewald Olivier³,Morel Jean‐Baptiste¹,Titah Cherif⁶,Saadoun David⁷,Lazeran Patrice Olivier⁸,Meunier Isabelle⁹

Affiliation:

1. Department of Ophthalmology, Reference Center for Rare Diseases, La Pitié‐Salpêtrière Hospital Paris‐Sorbonne University Paris France

2. Ophthalmology Department Imam Abdulrahman Bin Faisal University, King Fahad Hospital of the University Dammam Saudi Arabia

3. University Lille, Inserm, CHU Lille, U1172‐LilNCog‐Lille Neuroscience & Cognition Lille France

4. Institut de Génétique médicale d'Alsace, CARGO Reference Center for Rare Diseases in Genetic Ophthalmology University Hospital of Strasbourg Strasbourg France

5. Paediatric Rheumatology Department and CEREMAIA, Bicetre Hospital, APHP University of Paris Sud Saclay Bures‐sur‐Yvette France

6. Department of Ophthalmology Hôpital Fondation Rothschild Paris France

7. Department of Internal Medicine and Clinical Immunology, Reference Centre for Systemic Auto‐Immune Diseases, La Pitié‐Salpêtrière Hospital Paris‐Sorbonne University Paris France

8. Department of Ophthalmology Clinique des Cévennes Annonay France

9. Department of Ophthalmology, Reference Centre for Genetic Sensory Diseases, Hôpital Gui de Chauliac Montpellier University Montpellier France

Publisher

Wiley

Subject

Genetics (clinical),Genetics

Link

https://onlinelibrary.wiley.com/doi/pdf/10.1111/cge.14286

Reference8 articles.

1. ALPK1 missense pathogenic variant in five families leads to ROSAH syndrome, an ocular multisystem autosomal dominant disorder

2. An inherited disorder with splenomegaly, cytopenias, and vision loss

3. Gain-of-function mutations inALPK1cause an NF-κB-mediated autoinflammatory disease: functional assessment, clinical phenotyping and disease course of patients with ROSAH syndrome

4. Alpha-kinase 1 is a cytosolic innate immune receptor for bacterial ADP-heptose

5. Early Onset of TNFα-Driven Arthritis, Auto-inflammation, and Progressive Loss of Vision in a Patient with ALPK1 Mutation

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