A novel DOCK2 variant in siblings with severe combined immunodeficiency

Scandinavian Journal of Immunology(2023)

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Scandinavian Journal of ImmunologyVolume 97, Issue 3 e13243 LETTER TO THE EDITOR A novel DOCK2 variant in siblings with severe combined immunodeficiency Maria Anna Bruusgaard-Mouritsen, Corresponding Author Maria Anna Bruusgaard-Mouritsen [email protected] orcid.org/0000-0003-4259-5711 Section for Diagnostic Immunology, Department of Clinical Immunology, Copenhagen University Hospital – Rigshospitalet, Copenhagen, Denmark Correspondence Maria Anna Bruusgaard-Mouritsen, Section for Diagnostic Immunology 7631, Department of Clinical Immunology, Copenhagen University Hospital – Rigshospitalet, Ole Maaløes Vej 26, 2200 Copenhagen N, Denmark. Email: [email protected]Search for more papers by this authorTania Masmas, Tania Masmas Department of Paediatrics and Adolescent Medicine, Paediatric Haematopoietic Stem Cell Transplantation and Immunodeficiency, Copenhagen University Hospital – Rigshospitalet, Copenhagen, DenmarkSearch for more papers by this authorLine Borgwardt, Line Borgwardt Center for Genomic Medicine, Copenhagen University Hospital – Rigshospitalet, Copenhagen, DenmarkSearch for more papers by this authorLusine Nazaryan-Petersen, Lusine Nazaryan-Petersen Center for Genomic Medicine, Copenhagen University Hospital – Rigshospitalet, Copenhagen, DenmarkSearch for more papers by this authorCarsten Heilmann, Carsten Heilmann Department of Paediatrics and Adolescent Medicine, Paediatric Haematopoietic Stem Cell Transplantation and Immunodeficiency, Copenhagen University Hospital – Rigshospitalet, Copenhagen, DenmarkSearch for more papers by this authorHans O. Madsen, Hans O. Madsen Section for Diagnostic Immunology, Department of Clinical Immunology, Copenhagen University Hospital – Rigshospitalet, Copenhagen, DenmarkSearch for more papers by this authorHanne Vibeke Marquart, Hanne Vibeke Marquart Section for Diagnostic Immunology, Department of Clinical Immunology, Copenhagen University Hospital – Rigshospitalet, Copenhagen, DenmarkSearch for more papers by this author Maria Anna Bruusgaard-Mouritsen, Corresponding Author Maria Anna Bruusgaard-Mouritsen [email protected] orcid.org/0000-0003-4259-5711 Section for Diagnostic Immunology, Department of Clinical Immunology, Copenhagen University Hospital – Rigshospitalet, Copenhagen, Denmark Correspondence Maria Anna Bruusgaard-Mouritsen, Section for Diagnostic Immunology 7631, Department of Clinical Immunology, Copenhagen University Hospital – Rigshospitalet, Ole Maaløes Vej 26, 2200 Copenhagen N, Denmark. Email: [email protected]Search for more papers by this authorTania Masmas, Tania Masmas Department of Paediatrics and Adolescent Medicine, Paediatric Haematopoietic Stem Cell Transplantation and Immunodeficiency, Copenhagen University Hospital – Rigshospitalet, Copenhagen, DenmarkSearch for more papers by this authorLine Borgwardt, Line Borgwardt Center for Genomic Medicine, Copenhagen University Hospital – Rigshospitalet, Copenhagen, DenmarkSearch for more papers by this authorLusine Nazaryan-Petersen, Lusine Nazaryan-Petersen Center for Genomic Medicine, Copenhagen University Hospital – Rigshospitalet, Copenhagen, DenmarkSearch for more papers by this authorCarsten Heilmann, Carsten Heilmann Department of Paediatrics and Adolescent Medicine, Paediatric Haematopoietic Stem Cell Transplantation and Immunodeficiency, Copenhagen University Hospital – Rigshospitalet, Copenhagen, DenmarkSearch for more papers by this authorHans O. Madsen, Hans O. Madsen Section for Diagnostic Immunology, Department of Clinical Immunology, Copenhagen University Hospital – Rigshospitalet, Copenhagen, DenmarkSearch for more papers by this authorHanne Vibeke Marquart, Hanne Vibeke Marquart Section for Diagnostic Immunology, Department of Clinical Immunology, Copenhagen University Hospital – Rigshospitalet, Copenhagen, DenmarkSearch for more papers by this author First published: 21 December 2022 https://doi.org/10.1111/sji.13243Read the full textAboutPDF ToolsRequest permissionExport citationAdd to favoritesTrack citation ShareShare Give accessShare full text accessShare full-text accessPlease review our Terms and Conditions of Use and check box below to share full-text version of article.I have read and accept the Wiley Online Library Terms and Conditions of UseShareable LinkUse the link below to share a full-text version of this article with your friends and colleagues. Learn more.Copy URL REFERENCES 1Chen Y, Meng F, Wang B, He L, Liu Y, Liu Z. Dock2 in the development of inflammation and cancer. Eur J Immunol. 2018; 48(6): 915- 922. 2Moens L, Gouwy M, Bosch B, et al. Human DOCK2 deficiency: report of a novel mutation and evidence for neutrophil dysfunction. J Clin Immunol. 2019; 39(3): 298- 308. 3Aytekin ES, Çağdaş D, Tan Ç, Çavdarlı B, Bilgiç I, Tezcan İ. Hematopoietic stem cell transplantation complicated with EBV associated hemophagocytic lymphohistiocytosis in a patient with DOCK2 deficiency. Turk J Pediatr. 2021; 63(6): 1072- 1077. 4Bækvad-Hansen M, Adamsen D, Bybjerg-Grauholm J, Hougaard DM. Implementation of SCID screening in Denmark. Int J Neonatal Screen. 2021; 7(3): 54. 5Dobbs K, Domínguez Conde C, Zhang SY, et al. Inherited DOCK2 deficiency in patients with early-onset invasive infections. N Engl J Med. 2015; 372(25): 2409- 2422. 6Sharifinejad N, Sadri H, Kalantari A, et al. First patient in the Iranian Registry with novel DOCK2 gene mutation, presenting with skeletal tuberculosis, and review of literature. Allergy Asthma Clin Immunol. 2021; 17(1): 126. 7Richards S, Aziz N, Bale S, et al. Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology. Genet Med. 2015; 17(5): 405- 424. 8Alosaimi MF, Shendi H, Beano A, et al. T-cell mitochondrial dysfunction and lymphopenia in DOCK2-deficient patients. J Allergy Clin Immunol. 2019; 144(1): 306- 309.e2. 9D'Astous-Gauthier K, Desjardins A, Marois L. DOCK2 deficiency diagnosed 18 years after hematopoietic stem cell transplantation. J Clin Immunol. 2021; 41(6): 1400- 1402. 10Haddad E, Leroy S, Buckley RH. B-cell reconstitution for SCID: should a conditioning regimen be used in SCID treatment? J Allergy Clin Immunol. 2013; 131(4): 994- 1000. Volume97, Issue3March 2023e13243 ReferencesRelatedInformation
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severe combined immunodeficiency,siblings
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