{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,9,30]],"date-time":"2026-09-30T09:18:21Z","timestamp":1790759901435,"version":"4.1.0"},"reference-count":59,"publisher":"American Society of Hematology","issue":"16","license":[{"start":{"date-parts":[[2022,1,10]],"date-time":"2022-01-10T00:00:00Z","timestamp":1641772800000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/creativecommons.org\/licenses\/by-nc-nd\/4.0\/legalcode"}],"content-domain":{"domain":["ashpublications.org"],"crossmark-restriction":true},"short-container-title":[],"published-print":{"date-parts":[[2022,4,21]]},"abstract":"<jats:title>Abstract<\/jats:title>\n               <jats:p>Inherited bone marrow failure syndromes (IBMFSs) are a group of disorders typified by impaired production of 1 or several blood cell types. The telomere biology disorders dyskeratosis congenita (DC) and its severe variant, H\u00f8yeraal-Hreidarsson (HH) syndrome, are rare IBMFSs characterized by bone marrow failure, developmental defects, and various premature aging complications associated with critically short telomeres. We identified biallelic variants in the gene encoding the 5\u2032-to-3\u2032 DNA exonuclease Apollo\/SNM1B in 3 unrelated patients presenting with a DC\/HH phenotype consisting of early-onset hypocellular bone marrow failure, B and NK lymphopenia, developmental anomalies, microcephaly, and\/or intrauterine growth retardation. All 3 patients carry a homozygous or compound heterozygous (in combination with a null allele) missense variant affecting the same residue L142 (L142F or L142S) located in the catalytic domain of Apollo. Apollo-deficient cells from patients exhibited spontaneous chromosome instability and impaired DNA repair that was complemented by CRISPR\/Cas9-mediated gene correction. Furthermore, patients\u2019 cells showed signs of telomere fragility that were not associated with global reduction of telomere length. Unlike patients\u2019 cells, human Apollo KO HT1080 cell lines showed strong telomere dysfunction accompanied by excessive telomere shortening, suggesting that the L142S and L142F Apollo variants are hypomorphic. Collectively, these findings define human Apollo as a genome caretaker and identify biallelic Apollo variants as a genetic cause of a hitherto unrecognized severe IBMFS that combines clinical hallmarks of DC\/HH with normal telomere length.<\/jats:p>","DOI":"10.1182\/blood.2021010791","type":"journal-article","created":{"date-parts":[[2022,1,10]],"date-time":"2022-01-10T19:55:05Z","timestamp":1641844505000},"page":"2427-2440","update-policy":"https:\/\/doi.org\/10.1182\/blood.2019cm0000","source":"Crossref","is-referenced-by-count":42,"title":["Inherited human Apollo deficiency causes severe bone marrow failure and developmental defects"],"prefix":"10.1182","volume":"139","author":[{"given":"La\u00ebtitia","family":"Kermasson","sequence":"first","affiliation":[{"name":"Laboratory of Genome Dynamics in the Immune System, Laboratoire labellis\u00e9 Ligue Naionale contre le Cancer, INSERM UMR 1163, Universit\u00e9 de Paris, Imagine Institute, Paris, 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