TREX-1 related Aicardi-Goutières syndrome improved by Janus kinase inhibitor.

Aicardi-Goutières syndrome Janus kinase inhibitor TREX1 gene interferonopathy

Journal

American journal of medical genetics. Part A
ISSN: 1552-4833
Titre abrégé: Am J Med Genet A
Pays: United States
ID NLM: 101235741

Informations de publication

Date de publication:
22 Dec 2023
Historique:
revised: 04 12 2023
received: 22 09 2023
accepted: 10 12 2023
medline: 23 12 2023
pubmed: 23 12 2023
entrez: 22 12 2023
Statut: aheadofprint

Résumé

Aicardi-Goutières syndrome (AGS) is a genetic interferonopathy classically characterized by early onset of severe neurologic injury with basal ganglia calcifications, white matter abnormalities, and progressive cerebral atrophy, along with lymphocytosis and raised interferon alpha (INFα) in the cerebrospinal fluid (CSF). Here, we report a 3

Identifiants

pubmed: 38135344
doi: 10.1002/ajmg.a.63510
doi:

Types de publication

Case Reports

Langues

eng

Sous-ensembles de citation

IM

Informations de copyright

© 2023 Wiley Periodicals LLC.

Références

Adang, L. A., Gavazzi, F., Jawad, A. F., Cusack, S. V., Kopin, K., Peer, K., Besnier, C., de Simone, M., de Giorgis, V., Orcesi, S., Fazzi, E., Galli, J., Shults, J., & Vanderver, A. (2020). Development of a neurologic severity scale for Aicardi Goutières syndrome. Molecular Genetics and Metabolism, 130, 153-160. https://doi.org/10.1016/j.ymgme.2020.03.008
Casas-Alba, D., Darling, A., Caballero, E., Mensa-Vilaró, A., Bartrons, J., Antón, J., García-Cazorla, À., Vanderver, A., & Armangué, T. (2022). Efficacy of baricitinib on chronic pericardial effusion in a patient with Aicardi-Goutières syndrome. Rheumatology, 61, E87-E89. https://doi.org/10.1093/rheumatology/keab860
Crow, Y. J., Black, D. N., Ali, M., Bond, J., Jackson, A. P., Lefson, M., Michaud, J., Roberts, E., Stephenson, J. B. P., Woods, C. G., & Lebon, P. (2003). Cree encephalitis is allelic with Aicardi-Goutières syndrome: Implications for the pathogenesis of disorders of interferon alpha metabolism. Journal of Medical Genetics, 40, 183-187. https://doi.org/10.1136/jmg.40.3.183
Crow, Y. J., Hayward, B. E., Parmar, R., Robins, P., Leitch, A., Ali, M., Black, D. N., van Bokhoven, H., Brunner, H. G., Hamel, B. C., Corry, P. C., Cowan, F. M., Frints, S. G., Klepper, J., Livingston, J. H., Lynch, S. A., Massey, R. F., Meritet, J. F., Michaud, J. L., … Lindahl, T. (2006). Mutations in the gene encoding the 3′-5′ DNA exonuclease TREX1 cause Aicardi-Goutières syndrome at the AGS1 locus. Nature Genetics, 38, 917-920. https://doi.org/10.1038/ng1845
Crow, Y. J., Leitch, A., Hayward, B. E., Garner, A., Parmar, R., Griffith, E., Ali, M., Semple, C., Aicardi, J., Babul-Hirji, R., Baumann, C., Baxter, P., Bertini, E., Chandler, K. E., Chitayat, D., Cau, D., Déry, C., Fazzi, E., Goizet, C., … Jackson, A. P. (2006). Mutations in genes encoding ribonuclease H2 subunits cause Aicardi-Goutières syndrome and mimic congenital viral brain infection. Nature Genetics, 38, 910-916. https://doi.org/10.1038/ng1842
Crow, Y. J., Shetty, J., & Livingston, J. H. (2020). Treatments in Aicardi-Goutières syndrome. Developmental Medicine and Child Neurology, 62, 42-47. https://doi.org/10.1111/dmcn.14268
Crow, Y. J., Vanderver, A., Orcesi, S., Kuijpers, T. W., & Rice, G. I. (2014). Therapies in Aicardi-Goutières syndrome. Clinical and Experimental Immunology, 175, 1-8. https://doi.org/10.1111/cei.12115
Eichner, A., & Wohlrab, J. (2022). Pharmacology of inhibitors of Janus kinases - Part 1: Pharmacokinetics. Journal of the German Society of Dermatology, 20, 1485-1499. https://doi.org/10.1111/ddg.14921
Gedik, K. C., Lamot, L., Romano, M., Demirkaya, E., Piskin, D., Torreggiani, S., Adang, L. A., Armangue, T., Barchus, K., Cordova, D. R., Crow, Y. J., Dale, R. C., Durrant, K. L., Eleftheriou, D., Fazzi, E. M., Gattorno, M., Gavazzi, F., Hanson, E. P., Lee-Kirsch, M. A., … Goldbach-Mansky, R. (2022). The 2021 European alliance of associations for rheumatology/American college of rheumatology points to consider for diagnosis and management of autoinflammatory type I interferonopathies: CANDLE/PRAAS, SAVI and AGS. Annals of the Rheumatic Diseases, 81, 601-613. https://doi.org/10.1136/annrheumdis-2021-221814
Gómez-Arias, P. J., Gómez-García, F., Hernández-Parada, J., Montilla-López, A. M., Ruano, J., & Parra-Peralbo, E. (2021). Efficacy and safety of Janus kinase inhibitors in type I interferon-mediated monogenic autoinflammatory disorders: A scoping review. Dermatology and Therapy, 11, 733-750. https://doi.org/10.1007/s13555-021-00517-9
Kim, H., Brooks, K. M., Tang, C. C., Wakim, P., Blake, M., Brooks, S. R., Montealegre Sanchez, G. A., de Jesus, A. A., Huang, Y., Tsai, W. L., Gadina, M., Prakash, A., Janes, J. M., Zhang, X., Macias, W. L., Kumar, P., & Goldbach-Mansky, R. (2018). Pharmacokinetics, pharmacodynamics, and proposed dosing of the oral JAK1 and JAK2 inhibitor Baricitinib in pediatric and young adult CANDLE and SAVI patients. Clinical Pharmacology and Therapeutics, 104, 364-373. https://doi.org/10.1002/cpt.936
Livingston, J. H., & Crow, Y. J. (2016). Neurologic phenotypes associated with mutations in TREX1, RNASEH2A, RNASEH2B, RNASEH2C, SAMHD1, ADAR1, and IFIH1: Aicardi-Goutières syndrome and beyond. Neuropediatrics, 47, 355-360. https://doi.org/10.1055/s-0036-1592307
Meesilpavikkai, K., Dik, W. A., Schrijver, B., Helden-Meeuwsen, C. G., Versnel, M. A., Hagen, P. M., Bijlsma, E. K., Ruivenkamp, C. A. L., Oele, M. J., & Dalm, V. A. S. H. (2019). Efficacy of Baricitinib in the treatment of chilblains associated with Aicardi-Goutières syndrome, a type I interferonopathy. Arthritis & Rheumatology, 71, 829-831. https://doi.org/10.1002/art.40805
Mura, E., Masnada, S., Antonello, C., Parazzini, C., Izzo, G., Garau, J., Sproviero, D., Cereda, C., Orcesi, S., Veggiotti, P., Zuccotti, G., Dilillo, D., Penagini, F., & Tonduti, D. (2021). Ruxolitinib in Aicardi-Goutières syndrome. Metabolic Brain Disease, 36, 859-863. https://doi.org/10.1007/s11011-021-00716-5
Rice, G., Patrick, T., Parmar, R., Taylor, C. F., Aeby, A., Aicardi, J., Artuch, R., Montalto, S. A., Bacino, C. A., Barroso, B., Baxter, P., Benko, W. S., Bergmann, C., Bertini, E., Biancheri, R., Blair, E. M., Blau, N., Bonthron, D. T., Briggs, T., … Crow, Y. J. (2007). Clinical and molecular phenotype of Aicardi-Goutières syndrome. American Journal of Human Genetics, 81, 713-725. https://doi.org/10.1086/521373
Rice, G. I., Bond, J., Asipu, A., Brunette, R. L., Manfield, I. W., Carr, I. M., Fuller, J. C., Jackson, R. M., Lamb, T., Briggs, T. A., Ali, M., Gornall, H., Couthard, L. R., Aeby, A., Attard-Montalto, S. P., Bertini, E., Bodemer, C., Brockmann, K., Brueton, L. A., … Crow, Y. J. (2009). Mutations involved in Aicardi-Goutières syndrome implicate SAMHD1 as regulator of the innate immune response. Nature Genetics, 41, 829-832. https://doi.org/10.1038/ng.373
Rice, G. I., del Toro Duany, Y., Jenkinson, E. M., Forte, G. M. A., Anderson, B. H., Ariaudo, G., Bader-Meunier, B., Baildam, E. M., Battini, R., Beresford, M. W., Casarano, M., Chouchane, M., Cimaz, R., Collins, A. E., Cordeiro, N. J. V., Dale, R. C., Davidson, J. E., de Waele, L., Desguerre, I., … Crow, Y. J. (2014). Gain-of-function mutations in IFIH1 cause a spectrum of human disease phenotypes associated with upregulated type i interferon signaling. Nature Genetics, 46, 503-509. https://doi.org/10.1038/ng.2933
Rice, G. I., Kasher, P. R., Forte, G. M. A., Mannion, N. M., Greenwood, S. M., Szynkiewicz, M., Dickerson, J. E., Bhaskar, S. S., Zampini, M., Briggs, T. A., Jenkinson, E. M., Bacino, C. A., Battini, R., Bertini, E., Brogan, P. A., Brueton, L. A., Carpanelli, M., de Laet, C., de Lonlay, P., … Crow, Y. J. (2012). Mutations in ADAR1 cause Aicardi-Goutières syndrome associated with a type I interferon signature. Nature Genetics, 44, 1243-1248. https://doi.org/10.1038/ng.2414
Uggenti, C., Lepelley, A., Depp, M., Badrock, A. P., Rodero, M. P., El-Daher, M. T., Rice, G. I., Dhir, S., Wheeler, A. P., Dhir, A., Albawardi, W., Frémond, M. L., Seabra, L., Doig, J., Blair, N., Martin-Niclos, M. J., Della Mina, E., Rubio-Roldán, A., García-Pérez, J. L., … Crow, Y. J. (2020). cGAS-mediated induction of type I interferon due to inborn errors of histone pre-mRNA processing. Nature Genetics, 52, 1364-1372. https://doi.org/10.1038/s41588-020-00737-3
Vanderver, A., Adang, L., Gavazzi, F., McDonald, K., Helman, G., Frank, D. B., Jaffe, N., Yum, S. W., Collins, A., Keller, S. R., Lebon, P., Meritet, J.-F., Rhee, J., Takanohashi, A., Armangue, T., Ulrick, N., Sherbini, O., Koh, J., Peer, K., … Shults, J. (2020). Janus kinase inhibition in the Aicardi-Goutières syndrome. New England Journal of Medicine, 383, 986-989. https://doi.org/10.1056/nejmc2001362

Auteurs

Claire Ryckmans (C)

Department of Pediatrics, Division of Pediatric Neurology, Centre Hospitalier de Luxembourg, Luxembourg City, Luxembourg.
Department of Pediatrics, General Pediatric Service, Centre Hospitalier de Luxembourg, Luxembourg City, Luxembourg.

Mylène Donge (M)

Department of Pediatrics, Division of Pediatric Neurology, Centre Hospitalier de Luxembourg, Luxembourg City, Luxembourg.

Antonia Marchèse (A)

Department of Pediatrics, Division of Pediatric Neurology, Centre Hospitalier de Luxembourg, Luxembourg City, Luxembourg.

Meriem Mastouri (M)

Department of Pediatrics, General Pediatric Service, Centre Hospitalier de Luxembourg, Luxembourg City, Luxembourg.

Caroline Thomee (C)

Department of Pediatrics, General Pediatric Service, Centre Hospitalier de Luxembourg, Luxembourg City, Luxembourg.

Katrien Stouffs (K)

Clinical Sciences, Research Group Reproduction and Genetics, Centre for Medical Genetics, Vrije Universiteit Brussel (VUB), Universitair Ziekenhuis Brussel (UZ Brussel), Brussels, Belgium.

Sandra-Lucile Lieser (SL)

General Pediatric Service, Centre Hospitalier de Luxembourg, Luxembourg City, Luxembourg.

Emmanuel Scalais (E)

Department of Pediatrics, Division of Pediatric Neurology, Centre Hospitalier de Luxembourg, Luxembourg City, Luxembourg.

Classifications MeSH