ALPK1 Gene Mutations Drive Autoinflammation with Ectodermal Dysplasia and Progressive Vision Loss

Yvan Jamilloux^{1

2

3}, Thibaud Mathis⁴, Olivier Grunewald⁵, Hélène Dollfuss⁶, Thomas Henry⁷, Pascal Sève⁸, Isabelle Meunier⁹

Affiliations

¹ Internal Medicine, University Hospital Croix-Rousse, Hospices Civils de Lyon, 103 grande rue de la Croix-Rousse, 69004, Lyon, France. yvan.jamilloux@chu-lyon.fr.
² Centre International de Recherche en Infectiologie (CIRI), Inserm U1111, Université Claude Bernard-Lyon 1, CNRS, UMR5308, Ecole Normale Supérieure de Lyon, Lyon, France. yvan.jamilloux@chu-lyon.fr.
³ Lyon Immunology Federation (LIFE), Lyon, France. yvan.jamilloux@chu-lyon.fr.
⁴ Ophthalmology, University Hospital Croix-Rousse, UMR-CNRS 5510 Matéis, Hospices Civils de Lyon, University Lyon 1, Lyon, France.
⁵ Univ. Lille, Inserm, CHU Lille, U1172-LilNCog-Lille Neuroscience & Cognition, Lille, France.
⁶ Centre Des Affections Rares en Génétique Ophtalmologique (CARGO), Strasbourg University Hospitals, Strasbourg, France.
⁷ Centre International de Recherche en Infectiologie (CIRI), Inserm U1111, Université Claude Bernard-Lyon 1, CNRS, UMR5308, Ecole Normale Supérieure de Lyon, Lyon, France.
⁸ Internal Medicine, University Hospital Croix-Rousse, Hospices Civils de Lyon, 103 grande rue de la Croix-Rousse, 69004, Lyon, France.
⁹ Institute for Neurosciences of Montpellier U1051, National Center in Rare Diseases, Genetics of Sensory Diseases, Montpellier University Hospital, University of Montpellier, Montpellier, France.

Case Reports

Yvan Jamilloux et al. J Clin Immunol. 2021 Oct.

. 2021 Oct;41(7):1671-1673.

doi: 10.1007/s10875-021-01087-3. Epub 2021 Jun 22.

Yvan Jamilloux^{1

2

3}, Thibaud Mathis⁴, Olivier Grunewald⁵, Hélène Dollfuss⁶, Thomas Henry⁷, Pascal Sève⁸, Isabelle Meunier⁹

¹ Internal Medicine, University Hospital Croix-Rousse, Hospices Civils de Lyon, 103 grande rue de la Croix-Rousse, 69004, Lyon, France. yvan.jamilloux@chu-lyon.fr.
² Centre International de Recherche en Infectiologie (CIRI), Inserm U1111, Université Claude Bernard-Lyon 1, CNRS, UMR5308, Ecole Normale Supérieure de Lyon, Lyon, France. yvan.jamilloux@chu-lyon.fr.
³ Lyon Immunology Federation (LIFE), Lyon, France. yvan.jamilloux@chu-lyon.fr.
⁴ Ophthalmology, University Hospital Croix-Rousse, UMR-CNRS 5510 Matéis, Hospices Civils de Lyon, University Lyon 1, Lyon, France.
⁵ Univ. Lille, Inserm, CHU Lille, U1172-LilNCog-Lille Neuroscience & Cognition, Lille, France.
⁶ Centre Des Affections Rares en Génétique Ophtalmologique (CARGO), Strasbourg University Hospitals, Strasbourg, France.
⁷ Centre International de Recherche en Infectiologie (CIRI), Inserm U1111, Université Claude Bernard-Lyon 1, CNRS, UMR5308, Ecole Normale Supérieure de Lyon, Lyon, France.
⁸ Internal Medicine, University Hospital Croix-Rousse, Hospices Civils de Lyon, 103 grande rue de la Croix-Rousse, 69004, Lyon, France.
⁹ Institute for Neurosciences of Montpellier U1051, National Center in Rare Diseases, Genetics of Sensory Diseases, Montpellier University Hospital, University of Montpellier, Montpellier, France.

No abstract available

Comment in

Early Onset of TNFα-Driven Arthritis, Auto-inflammation, and Progressive Loss of Vision in a Patient with ALPK1 Mutation.
Hecker J, Letizia M, Loescher BS, Siegmund B, Weidinger C. Hecker J, et al. J Clin Immunol. 2022 May;42(4):880-884. doi: 10.1007/s10875-022-01214-8. Epub 2022 Mar 2. J Clin Immunol. 2022. PMID: 35235128 Free PMC article. No abstract available.

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