{"database":"biostudies-literature","file_versions":[],"scores":null,"additional":{"omics_type":["Unknown"],"volume":["139(16)"],"submitter":["Kermasson L"],"pubmed_abstract":["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, Høyeraal-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'-to-3' 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 "],"journal":["Blood"],"pagination":["2427-2440"],"full_dataset_link":["https://www.ebi.ac.uk/biostudies/studies/S-EPMC11022855"],"repository":["biostudies-literature"],"pubmed_title":["Inherited human Apollo deficiency causes severe bone marrow failure and developmental defects."],"pmcid":["PMC11022855"],"pubmed_authors":["Haro S","Roger L","Kermasson L","Touzot F","Kannengiesser C","Callebaut I","Bottero A","Danielian S","Costa E","Smoom R","Abdo C","Audebert-Bellanger S","Revy P","Lainey E","Soares G","Churikov D","Oleastro M","Mouf M","de Villartay JP","Tzfati Y","Geli V","Awad A"],"additional_accession":[]},"is_claimable":false,"name":"Inherited human Apollo deficiency causes severe bone marrow failure and developmental defects.","description":"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, Høyeraal-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'-to-3' 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 ","dates":{"release":"2022-01-01T00:00:00Z","publication":"2022 Apr","modification":"2026-06-02T10:26:13.53Z","creation":"2025-04-06T00:48:41.355Z"},"accession":"S-EPMC11022855","cross_references":{"pubmed":["35007328"],"doi":["10.1182/blood.2021010791"]}}