• P Antoine, L Terriou, G Lefèvre, C Kannengiesser, S Sanges, D Launay, V Sobanski, É Hachulla, A Louvet, M-C Willemin, A Renaut-Marceau, E Lainey, F Sicre de Fontbrune, and M-M Farhat.
• Université de. Lille, U1286 - INFINITE - Institute for Translational Research in Inflammation, 59000 Lille, France; Inserm, 59000 Lille, France; Service de médecine interne et immunologie clinique, centre de référence des maladies auto-immunes systémiques rares du Nord et Nord-Ouest de France (CeRAINO), CHU de Lille, 59000 Lille, France.
• Rev Med Interne. 2022 Jan 1; 43 (1): 3-8.

IntroductionTelomeres are composed of a repeated sequence of double-stranded nucleotides TTAGGG and numerous proteins including the Shelterin complex. Their main role is to maintain the stability of the genome during cell replication through a mechanism of copying the repeted sequence by the telomerase complexe. All the diseases involving a deregulation of this complex are now grouped together under the term telomeropathies. They are difficult to diagnose and manage. Our objective was to describe the clinico-biological characteristics and treatments used, in patients affected by telomeropathies previously seen by an hematologist followed at the Lille University Hospital Center.MethodsThis is a retrospective, single-center study carried out within the department of internal medicine-clinical immunology, Reference center for rare autoimmune and systemic diseases at Lille University Hospital Center between 2005 and 2020 including all patients followed for telomeropathy.ResultsProbands and relatives were included. Fifteen patients were studied from 10 independant families. Sixty percent had an heterozygous TERC gene mutation. Sixty seven percent had haematological diseases including macrocytosis, anemia and/or thrombocytopenia, 20 % had a fibrotic hepatic disease, 27 % had a fibrotic pulmonary disease. Lymphocyte immunophenotyping showed a double negative T lymphocyte population with γδ TCR expression in 5 (33 %) patients. Forty-seven percent of the patients had not received any treatment. Twenty-seven percent were on androgen therapy. Twenty percent had received cyclosporine and 13 % anti-lymphocyte serum in the context of initial misdiagnosis.ConclusionIt is important to be aware of the complexity of telomeropathies, a differential diagnosis of immune aplastic anemia, in order to optimize management and avoid inappropriate treatments. Allografting of hematopoietic stem cells is the only potentially curative treatment. Our analysis found particularities in immunophenotyping lymphocyte not previously described to our knowledge, whose physiopathological imputability remains to be demonstrated.Copyright © 2021. Published by Elsevier Masson SAS.

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