<> <http://www.w3.org/2000/01/rdf-schema#comment> "The repository administrator has not yet configured an RDF license."^^<http://www.w3.org/2001/XMLSchema#string> . <> <http://xmlns.com/foaf/0.1/primaryTopic> <https://discovery.ucl.ac.uk/id/eprint/10048420> . <https://discovery.ucl.ac.uk/id/eprint/10048420> <http://www.w3.org/1999/02/22-rdf-syntax-ns#type> <http://purl.org/ontology/bibo/AcademicArticle> . <https://discovery.ucl.ac.uk/id/eprint/10048420> <http://www.w3.org/1999/02/22-rdf-syntax-ns#type> <http://purl.org/ontology/bibo/Article> . <https://discovery.ucl.ac.uk/id/eprint/10048420> <http://purl.org/dc/terms/title> "Recent advances in understanding the pathogenesis and management of reticular dysgenesis"^^<http://www.w3.org/2001/XMLSchema#string> . <https://discovery.ucl.ac.uk/id/eprint/10048420> <http://purl.org/ontology/bibo/abstract> "SUMMARY\r\nReticular Dysgenesis is a rare immunodeficiency which is clinically characterized by the combination of Severe Combined Immunodeficiency (SCID) with agranulocytosis and sensorineural deafness. Mutations in the gene encoding adenylate kinase 2 (AK2) were identified to cause this phenotype. In this review, we will demonstrate important clinical differences between reticular dysgenesis and other SCID entities and summarize recent concepts in the understanding of the pathophysiology of the disease and the management strategies for this difficult condition."^^<http://www.w3.org/2001/XMLSchema#string> . <https://discovery.ucl.ac.uk/id/eprint/10048420> <http://purl.org/dc/terms/date> "2017-12-21" . <https://discovery.ucl.ac.uk/id/document/665690> <http://www.w3.org/1999/02/22-rdf-syntax-ns#type> <http://purl.org/ontology/bibo/Document> . <https://discovery.ucl.ac.uk/id/eprint/10048420> <http://purl.org/ontology/bibo/volume> "180" . <https://discovery.ucl.ac.uk/id/eprint/10048420> <http://purl.org/ontology/bibo/issue> "5" . <https://discovery.ucl.ac.uk/id/org/ext-69575aab272d692ae22e92dad044c2a2> <http://www.w3.org/1999/02/22-rdf-syntax-ns#type> <http://xmlns.com/foaf/0.1/Organization> . <https://discovery.ucl.ac.uk/id/org/ext-69575aab272d692ae22e92dad044c2a2> 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. <https://discovery.ucl.ac.uk/id/person/ext-553172f750acda23801973449e05cb38> <http://xmlns.com/foaf/0.1/name> "K Schwarz"^^<http://www.w3.org/2001/XMLSchema#string> . <https://discovery.ucl.ac.uk/id/person/ext-cfa6699005280a5736c52e09ce0e5a3d> <http://www.w3.org/1999/02/22-rdf-syntax-ns#type> <http://xmlns.com/foaf/0.1/Person> . <https://discovery.ucl.ac.uk/id/person/ext-cfa6699005280a5736c52e09ce0e5a3d> <http://xmlns.com/foaf/0.1/givenName> "HB"^^<http://www.w3.org/2001/XMLSchema#string> . <https://discovery.ucl.ac.uk/id/person/ext-cfa6699005280a5736c52e09ce0e5a3d> <http://xmlns.com/foaf/0.1/familyName> "Gaspar"^^<http://www.w3.org/2001/XMLSchema#string> . <https://discovery.ucl.ac.uk/id/person/ext-cfa6699005280a5736c52e09ce0e5a3d> <http://xmlns.com/foaf/0.1/name> "HB Gaspar"^^<http://www.w3.org/2001/XMLSchema#string> . <https://discovery.ucl.ac.uk/id/eprint/10048420> <http://www.w3.org/1999/02/22-rdf-syntax-ns#type> <http://eprints.org/ontology/EPrint> . 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