Top

Published in:

01-10-2021 | Letter to Editor

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

Authors: Yvan Jamilloux, Thibaud Mathis, Olivier Grunewald, Hélène Dollfuss, Thomas Henry, Pascal Sève, Isabelle Meunier

Published in: Journal of Clinical Immunology | Issue 7/2021

Excerpt

To the Editor, …

Available only for authorised users

Zhou P, She Y, Dong N, Li P, He H, Borio A, et al. Alpha-kinase 1 is a cytosolic innate immune receptor for bacterial ADP-heptose. Nature. 2018;561:122–6. https://doi.org/10.1038/s41586-018-0433-3.CrossRefPubMed

Sangiorgi E, Azzarà A, Molinario C, Pietrobono R, Rigante D, Verrecchia E, et al. Rare missense variants in the ALPK1 gene may predispose to periodic fever, aphthous stomatitis, pharyngitis and adenitis (PFAPA) syndrome. Eur J Hum Genet. 2019;27:1361–8. https://doi.org/10.1038/s41431-019-0421-6.CrossRefPubMedPubMedCentral

Williams LB, Javed A, Sabri A, Morgan DJ, Huff CD, Grigg JR, et al. ALPK1 missense pathogenic variant in five families leads to ROSAH syndrome, an ocular multisystem autosomal dominant disorder. Genet Med. 2019;21:2103–15. https://doi.org/10.1038/s41436-019-0476-3.CrossRefPubMedPubMedCentral

Zhong L, Wang J, Wang W, Wang L, Quan M, Tang X, et al. Juvenile onset splenomegaly and oculopathy due to germline mutation in ALPK1. J Clin Immunol. 2020;40:350–8. https://doi.org/10.1007/s10875-020-00741-6.CrossRefPubMed

Steiner A, Harapas CR, Masters SL, Davidson S. An update on autoinflammatory diseases: relopathies. Curr Rheumatol Rep. 2018;20:39. https://doi.org/10.1007/s11926-018-0749-x.CrossRefPubMed

Ben-Chetrit E, Gattorno M, Gul A, Kastner DL, Lachmann HJ, Touitou I, et al. Consensus proposal for taxonomy and definition of the autoinflammatory diseases (AIDs): a Delphi study. Ann Rheum Dis. 2018;77:1558–65. https://doi.org/10.1136/annrheumdis-2017-212515.CrossRefPubMed

Schmidt-Ullrich R, Tobin DJ, Lenhard D, Schneider P, Paus R, Scheidereit C. NF-κB transmits Eda A1/EdaR signalling to activate Shh and cyclin D1 expression, and controls post-initiation hair placode down growth. Development. 2006;133:1045–57. https://doi.org/10.1242/dev.02278.CrossRefPubMed

Title: ALPK1 Gene Mutations Drive Autoinflammation with Ectodermal Dysplasia and Progressive Vision Loss
Authors: Yvan Jamilloux
Thibaud Mathis
Olivier Grunewald
Hélène Dollfuss
Thomas Henry
Pascal Sève
Isabelle Meunier
Publication date: 01-10-2021
Publisher: Springer US
Published in: Journal of Clinical Immunology / Issue 7/2021
Print ISSN: 0271-9142
Electronic ISSN: 1573-2592
DOI: https://doi.org/10.1007/s10875-021-01087-3

ACC 2024 Congress Coverage

Heart Failure Video

Year in Review: Heart failure and cardiomyopathies

Watch now

Watch this official video from ACC.24. Dr. Biykem Bozkurt discuss last year's major advances in heart failure and cardiomyopathies.

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

At a glance: The ONWARDS insulin icodec trials

Springer Medicine

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

Excerpt

ACC 2024 Congress Coverage

Year in Review: Heart failure and cardiomyopathies

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

Incentivised to exercise

New intervention for STEMI-related cardiogenic shock

» View more highlights on the ACC 2024 congress hub page

At a glance: The ONWARDS insulin icodec trials

Springer Medicine

Excerpt

Please log in to get access to this content

Other articles of this Issue 7/2021

Normal IgH Repertoire Diversity in an Infant with ADA Deficiency After Gene Therapy

Listeria Monocytogenes Meningoencephalitis Due to IRAK4 Deficiency

Atypical Inflammatory Syndrome Triggered by SARS-CoV-2 in Infants with Down Syndrome

Human Disease Phenotypes Associated with Loss and Gain of Function Mutations in STAT2: Viral Susceptibility and Type I Interferonopathy

BCG Vaccine–Associated Complications in Patients with PTEN Hamartoma Tumor Syndrome

Hematopoietic Stem Cell Transplantation Successfully Treats CD40LG Duplication

ACC 2024 Congress Coverage

Year in Review: Heart failure and cardiomyopathies

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

Incentivised to exercise

New intervention for STEMI-related cardiogenic shock

» View more highlights on the ACC 2024 congress hub page