Get quick answers to your questions about the article from our AI researcher chatbot
{'id': 'https://openalex.org/W2162588193', 'doi': 'https://doi.org/10.1182/blood-2006-04-015776', 'title': 'A homozygous Fas ligand gene mutation in a patient causes a new type of autoimmune lymphoproliferative syndrome', 'display_name': 'A homozygous Fas ligand gene mutation in a patient causes a new type of autoimmune lymphoproliferative syndrome', 'publication_year': 2006, 'publication_date': '2006-04-21', 'ids': {'openalex': 'https://openalex.org/W2162588193', 'doi': 'https://doi.org/10.1182/blood-2006-04-015776', 'mag': '2162588193', 'pmid': 'https://pubmed.ncbi.nlm.nih.gov/16627752'}, 'language': 'en', 'primary_location': {'is_oa': True, 'landing_page_url': 'https://doi.org/10.1182/blood-2006-04-015776', 'pdf_url': 'https://ashpublications.org/blood/article-pdf/108/4/1306/1283357/zh801606001306.pdf', 'source': {'id': 'https://openalex.org/S200071133', 'display_name': 'Blood', 'issn_l': '0006-4971', 'issn': ['0006-4971', '1528-0020'], 'is_oa': False, 'is_in_doaj': False, 'is_core': True, 'host_organization': 'https://openalex.org/P4310320990', 'host_organization_name': 'Elsevier BV', 'host_organization_lineage': ['https://openalex.org/P4310320990'], 'host_organization_lineage_names': ['Elsevier BV'], 'type': 'journal'}, 'license': None, 'license_id': None, 'version': 'publishedVersion', 'is_accepted': True, 'is_published': True}, 'type': 'article', 'type_crossref': 'journal-article', 'indexed_in': ['crossref', 'pubmed'], 'open_access': {'is_oa': True, 'oa_status': 'bronze', 'oa_url': 'https://ashpublications.org/blood/article-pdf/108/4/1306/1283357/zh801606001306.pdf', 'any_repository_has_fulltext': False}, 'authorships': [{'author_position': 'first', 'author': {'id': 'https://openalex.org/A5040725452', 'display_name': 'Manuel J. Del Rey', 'orcid': 'https://orcid.org/0000-0002-8180-1584'}, 'institutions': [{'id': 'https://openalex.org/I255234318', 'display_name': 'Universidad de Zaragoza', 'ror': 'https://ror.org/012a91z28', 'country_code': 'ES', 'type': 'education', 'lineage': ['https://openalex.org/I255234318']}], 'countries': ['ES'], 'is_corresponding': False, 'raw_author_name': 'Manuel Del-Rey', 'raw_affiliation_strings': ['From the Servicio de Inmunología and Unidad de Inmunodeficiencias, Hospital Universitario 12 de Octubre, Madrid; Departamento de Bioquímica, Biología Molecular y Celular, Universidad de Zaragoza; and Servicio de Inmunología, Hospital Ramón y Cajal, Madrid, Spain.'], 'affiliations': [{'raw_affiliation_string': 'From the Servicio de Inmunología and Unidad de Inmunodeficiencias, Hospital Universitario 12 de Octubre, Madrid; Departamento de Bioquímica, Biología Molecular y Celular, Universidad de Zaragoza; and Servicio de Inmunología, Hospital Ramón y Cajal, Madrid, Spain.', 'institution_ids': ['https://openalex.org/I255234318']}]}, {'author_position': 'middle', 'author': {'id': 'https://openalex.org/A5061002664', 'display_name': 'Jesús Ruíz-Contreras', 'orcid': 'https://orcid.org/0000-0002-2788-7524'}, 'institutions': [{'id': 'https://openalex.org/I255234318', 'display_name': 'Universidad de Zaragoza', 'ror': 'https://ror.org/012a91z28', 'country_code': 'ES', 'type': 'education', 'lineage': ['https://openalex.org/I255234318']}], 'countries': ['ES'], 'is_corresponding': False, 'raw_author_name': 'Jesus Ruiz-Contreras', 'raw_affiliation_strings': ['From the Servicio de Inmunología and Unidad de Inmunodeficiencias, Hospital Universitario 12 de Octubre, Madrid; Departamento de Bioquímica, Biología Molecular y Celular, Universidad de Zaragoza; and Servicio de Inmunología, Hospital Ramón y Cajal, Madrid, Spain.'], 'affiliations': [{'raw_affiliation_string': 'From the Servicio de Inmunología and Unidad de Inmunodeficiencias, Hospital Universitario 12 de Octubre, Madrid; Departamento de Bioquímica, Biología Molecular y Celular, Universidad de Zaragoza; and Servicio de Inmunología, Hospital Ramón y Cajal, Madrid, Spain.', 'institution_ids': ['https://openalex.org/I255234318']}]}, {'author_position': 'middle', 'author': {'id': 'https://openalex.org/A5034983452', 'display_name': 'Alberto Bosque', 'orcid': 'https://orcid.org/0000-0002-8800-2160'}, 'institutions': [{'id': 'https://openalex.org/I255234318', 'display_name': 'Universidad de Zaragoza', 'ror': 'https://ror.org/012a91z28', 'country_code': 'ES', 'type': 'education', 'lineage': ['https://openalex.org/I255234318']}], 'countries': ['ES'], 'is_corresponding': False, 'raw_author_name': 'Alberto Bosque', 'raw_affiliation_strings': ['From the Servicio de Inmunología and Unidad de Inmunodeficiencias, Hospital Universitario 12 de Octubre, Madrid; Departamento de Bioquímica, Biología Molecular y Celular, Universidad de Zaragoza; and Servicio de Inmunología, Hospital Ramón y Cajal, Madrid, Spain.'], 'affiliations': [{'raw_affiliation_string': 'From the Servicio de Inmunología and Unidad de Inmunodeficiencias, Hospital Universitario 12 de Octubre, Madrid; Departamento de Bioquímica, Biología Molecular y Celular, Universidad de Zaragoza; and Servicio de Inmunología, Hospital Ramón y Cajal, Madrid, Spain.', 'institution_ids': ['https://openalex.org/I255234318']}]}, {'author_position': 'middle', 'author': {'id': 'https://openalex.org/A5103470615', 'display_name': 'Sara Calleja', 'orcid': None}, 'institutions': [{'id': 'https://openalex.org/I255234318', 'display_name': 'Universidad de Zaragoza', 'ror': 'https://ror.org/012a91z28', 'country_code': 'ES', 'type': 'education', 'lineage': ['https://openalex.org/I255234318']}], 'countries': ['ES'], 'is_corresponding': False, 'raw_author_name': 'Sara Calleja', 'raw_affiliation_strings': ['From the Servicio de Inmunología and Unidad de Inmunodeficiencias, Hospital Universitario 12 de Octubre, Madrid; Departamento de Bioquímica, Biología Molecular y Celular, Universidad de Zaragoza; and Servicio de Inmunología, Hospital Ramón y Cajal, Madrid, Spain.'], 'affiliations': [{'raw_affiliation_string': 'From the Servicio de Inmunología and Unidad de Inmunodeficiencias, Hospital Universitario 12 de Octubre, Madrid; Departamento de Bioquímica, Biología Molecular y Celular, Universidad de Zaragoza; and Servicio de Inmunología, Hospital Ramón y Cajal, Madrid, Spain.', 'institution_ids': ['https://openalex.org/I255234318']}]}, {'author_position': 'middle', 'author': {'id': 'https://openalex.org/A5037804176', 'display_name': 'José Gómez Rial', 'orcid': 'https://orcid.org/0000-0002-3173-8484'}, 'institutions': [{'id': 'https://openalex.org/I255234318', 'display_name': 'Universidad de Zaragoza', 'ror': 'https://ror.org/012a91z28', 'country_code': 'ES', 'type': 'education', 'lineage': ['https://openalex.org/I255234318']}], 'countries': ['ES'], 'is_corresponding': False, 'raw_author_name': 'Jose Gomez-Rial', 'raw_affiliation_strings': ['From the Servicio de Inmunología and Unidad de Inmunodeficiencias, Hospital Universitario 12 de Octubre, Madrid; Departamento de Bioquímica, Biología Molecular y Celular, Universidad de Zaragoza; and Servicio de Inmunología, Hospital Ramón y Cajal, Madrid, Spain.'], 'affiliations': [{'raw_affiliation_string': 'From the Servicio de Inmunología and Unidad de Inmunodeficiencias, Hospital Universitario 12 de Octubre, Madrid; Departamento de Bioquímica, Biología Molecular y Celular, Universidad de Zaragoza; and Servicio de Inmunología, Hospital Ramón y Cajal, Madrid, Spain.', 'institution_ids': ['https://openalex.org/I255234318']}]}, {'author_position': 'middle', 'author': {'id': 'https://openalex.org/A5103883835', 'display_name': 'Ernesto Roldán', 'orcid': None}, 'institutions': [{'id': 'https://openalex.org/I255234318', 'display_name': 'Universidad de Zaragoza', 'ror': 'https://ror.org/012a91z28', 'country_code': 'ES', 'type': 'education', 'lineage': ['https://openalex.org/I255234318']}], 'countries': ['ES'], 'is_corresponding': False, 'raw_author_name': 'Ernesto Roldan', 'raw_affiliation_strings': ['From the Servicio de Inmunología and Unidad de Inmunodeficiencias, Hospital Universitario 12 de Octubre, Madrid; Departamento de Bioquímica, Biología Molecular y Celular, Universidad de Zaragoza; and Servicio de Inmunología, Hospital Ramón y Cajal, Madrid, Spain.'], 'affiliations': [{'raw_affiliation_string': 'From the Servicio de Inmunología and Unidad de Inmunodeficiencias, Hospital Universitario 12 de Octubre, Madrid; Departamento de Bioquímica, Biología Molecular y Celular, Universidad de Zaragoza; and Servicio de Inmunología, Hospital Ramón y Cajal, Madrid, Spain.', 'institution_ids': ['https://openalex.org/I255234318']}]}, {'author_position': 'middle', 'author': {'id': 'https://openalex.org/A5005554015', 'display_name': 'Pablo Morales', 'orcid': 'https://orcid.org/0000-0002-2225-2255'}, 'institutions': [{'id': 'https://openalex.org/I255234318', 'display_name': 'Universidad de Zaragoza', 'ror': 'https://ror.org/012a91z28', 'country_code': 'ES', 'type': 'education', 'lineage': ['https://openalex.org/I255234318']}], 'countries': ['ES'], 'is_corresponding': False, 'raw_author_name': 'Pablo Morales', 'raw_affiliation_strings': ['From the Servicio de Inmunología and Unidad de Inmunodeficiencias, Hospital Universitario 12 de Octubre, Madrid; Departamento de Bioquímica, Biología Molecular y Celular, Universidad de Zaragoza; and Servicio de Inmunología, Hospital Ramón y Cajal, Madrid, Spain.'], 'affiliations': [{'raw_affiliation_string': 'From the Servicio de Inmunología and Unidad de Inmunodeficiencias, Hospital Universitario 12 de Octubre, Madrid; Departamento de Bioquímica, Biología Molecular y Celular, Universidad de Zaragoza; and Servicio de Inmunología, Hospital Ramón y Cajal, Madrid, Spain.', 'institution_ids': ['https://openalex.org/I255234318']}]}, {'author_position': 'middle', 'author': {'id': 'https://openalex.org/A5064146880', 'display_name': 'Antonio Serrano', 'orcid': 'https://orcid.org/0000-0003-1993-640X'}, 'institutions': [{'id': 'https://openalex.org/I255234318', 'display_name': 'Universidad de Zaragoza', 'ror': 'https://ror.org/012a91z28', 'country_code': 'ES', 'type': 'education', 'lineage': ['https://openalex.org/I255234318']}], 'countries': ['ES'], 'is_corresponding': False, 'raw_author_name': 'Antonio Serrano', 'raw_affiliation_strings': ['From the Servicio de Inmunología and Unidad de Inmunodeficiencias, Hospital Universitario 12 de Octubre, Madrid; Departamento de Bioquímica, Biología Molecular y Celular, Universidad de Zaragoza; and Servicio de Inmunología, Hospital Ramón y Cajal, Madrid, Spain.'], 'affiliations': [{'raw_affiliation_string': 'From the Servicio de Inmunología and Unidad de Inmunodeficiencias, Hospital Universitario 12 de Octubre, Madrid; Departamento de Bioquímica, Biología Molecular y Celular, Universidad de Zaragoza; and Servicio de Inmunología, Hospital Ramón y Cajal, Madrid, Spain.', 'institution_ids': ['https://openalex.org/I255234318']}]}, {'author_position': 'middle', 'author': {'id': 'https://openalex.org/A5059782439', 'display_name': 'Alberto Anel', 'orcid': 'https://orcid.org/0000-0002-5175-8394'}, 'institutions': [{'id': 'https://openalex.org/I255234318', 'display_name': 'Universidad de Zaragoza', 'ror': 'https://ror.org/012a91z28', 'country_code': 'ES', 'type': 'education', 'lineage': ['https://openalex.org/I255234318']}], 'countries': ['ES'], 'is_corresponding': False, 'raw_author_name': 'Alberto Anel', 'raw_affiliation_strings': ['From the Servicio de Inmunología and Unidad de Inmunodeficiencias, Hospital Universitario 12 de Octubre, Madrid; Departamento de Bioquímica, Biología Molecular y Celular, Universidad de Zaragoza; and Servicio de Inmunología, Hospital Ramón y Cajal, Madrid, Spain.'], 'affiliations': [{'raw_affiliation_string': 'From the Servicio de Inmunología and Unidad de Inmunodeficiencias, Hospital Universitario 12 de Octubre, Madrid; Departamento de Bioquímica, Biología Molecular y Celular, Universidad de Zaragoza; and Servicio de Inmunología, Hospital Ramón y Cajal, Madrid, Spain.', 'institution_ids': ['https://openalex.org/I255234318']}]}, {'author_position': 'middle', 'author': {'id': 'https://openalex.org/A5059258451', 'display_name': 'Estela Paz‐Artal', 'orcid': 'https://orcid.org/0000-0002-0646-2375'}, 'institutions': [{'id': 'https://openalex.org/I255234318', 'display_name': 'Universidad de Zaragoza', 'ror': 'https://ror.org/012a91z28', 'country_code': 'ES', 'type': 'education', 'lineage': ['https://openalex.org/I255234318']}], 'countries': ['ES'], 'is_corresponding': False, 'raw_author_name': 'Estela Paz-Artal', 'raw_affiliation_strings': ['From the Servicio de Inmunología and Unidad de Inmunodeficiencias, Hospital Universitario 12 de Octubre, Madrid; Departamento de Bioquímica, Biología Molecular y Celular, Universidad de Zaragoza; and Servicio de Inmunología, Hospital Ramón y Cajal, Madrid, Spain.'], 'affiliations': [{'raw_affiliation_string': 'From the Servicio de Inmunología and Unidad de Inmunodeficiencias, Hospital Universitario 12 de Octubre, Madrid; Departamento de Bioquímica, Biología Molecular y Celular, Universidad de Zaragoza; and Servicio de Inmunología, Hospital Ramón y Cajal, Madrid, Spain.', 'institution_ids': ['https://openalex.org/I255234318']}]}, {'author_position': 'last', 'author': {'id': 'https://openalex.org/A5061334675', 'display_name': 'Luís M. Allende', 'orcid': 'https://orcid.org/0000-0001-9586-8539'}, 'institutions': [{'id': 'https://openalex.org/I255234318', 'display_name': 'Universidad de Zaragoza', 'ror': 'https://ror.org/012a91z28', 'country_code': 'ES', 'type': 'education', 'lineage': ['https://openalex.org/I255234318']}], 'countries': ['ES'], 'is_corresponding': False, 'raw_author_name': 'Luis M. Allende', 'raw_affiliation_strings': ['From the Servicio de Inmunología and Unidad de Inmunodeficiencias, Hospital Universitario 12 de Octubre, Madrid; Departamento de Bioquímica, Biología Molecular y Celular, Universidad de Zaragoza; and Servicio de Inmunología, Hospital Ramón y Cajal, Madrid, Spain.'], 'affiliations': [{'raw_affiliation_string': 'From the Servicio de Inmunología and Unidad de Inmunodeficiencias, Hospital Universitario 12 de Octubre, Madrid; Departamento de Bioquímica, Biología Molecular y Celular, Universidad de Zaragoza; and Servicio de Inmunología, Hospital Ramón y Cajal, Madrid, Spain.', 'institution_ids': ['https://openalex.org/I255234318']}]}], 'institution_assertions': [], 'countries_distinct_count': 1, 'institutions_distinct_count': 1, 'corresponding_author_ids': [], 'corresponding_institution_ids': [], 'apc_list': {'value': 5000, 'currency': 'USD', 'value_usd': 5000, 'provenance': 'doaj'}, 'apc_paid': None, 'fwci': 4.909, 'has_fulltext': True, 'fulltext_origin': 'ngrams', 'cited_by_count': 125, 'citation_normalized_percentile': {'value': 0.999932, 'is_in_top_1_percent': True, 'is_in_top_10_percent': True}, 'cited_by_percentile_year': {'min': 97, 'max': 98}, 'biblio': {'volume': '108', 'issue': '4', 'first_page': '1306', 'last_page': '1312'}, 'is_retracted': False, 'is_paratext': False, 'primary_topic': {'id': 'https://openalex.org/T10685', 'display_name': 'Viral-Related Cancers in Immunocompromised Patients', 'score': 0.9993, 'subfield': {'id': 'https://openalex.org/subfields/2730', 'display_name': 'Oncology'}, 'field': {'id': 'https://openalex.org/fields/27', 'display_name': 'Medicine'}, 'domain': {'id': 'https://openalex.org/domains/4', 'display_name': 'Health Sciences'}}, 'topics': [{'id': 'https://openalex.org/T10685', 'display_name': 'Viral-Related Cancers in Immunocompromised Patients', 'score': 0.9993, 'subfield': {'id': 'https://openalex.org/subfields/2730', 'display_name': 'Oncology'}, 'field': {'id': 'https://openalex.org/fields/27', 'display_name': 'Medicine'}, 'domain': {'id': 'https://openalex.org/domains/4', 'display_name': 'Health Sciences'}}, {'id': 'https://openalex.org/T11020', 'display_name': 'Natural Killer Cells in Immunity', 'score': 0.9954, 'subfield': {'id': 'https://openalex.org/subfields/2403', 'display_name': 'Immunology'}, 'field': {'id': 'https://openalex.org/fields/24', 'display_name': 'Immunology and Microbiology'}, 'domain': {'id': 'https://openalex.org/domains/1', 'display_name': 'Life Sciences'}}, {'id': 'https://openalex.org/T10294', 'display_name': 'Molecular Mechanisms of Apoptosis and Cell Death', 'score': 0.995, 'subfield': {'id': 'https://openalex.org/subfields/1312', 'display_name': 'Molecular Biology'}, 'field': {'id': 'https://openalex.org/fields/13', 'display_name': 'Biochemistry, Genetics and Molecular Biology'}, 'domain': {'id': 'https://openalex.org/domains/1', 'display_name': 'Life Sciences'}}], 'keywords': [{'id': 'https://openalex.org/keywords/fas-ligand', 'display_name': 'Fas ligand', 'score': 0.96799934}, {'id': 'https://openalex.org/keywords/autoimmune-lymphoproliferative-syndrome', 'display_name': 'Autoimmune lymphoproliferative syndrome', 'score': 0.837251}, {'id': 'https://openalex.org/keywords/jurkat-cells', 'display_name': 'Jurkat cells', 'score': 0.59512377}, {'id': 'https://openalex.org/keywords/post-transplant-lymphoproliferative-disease', 'display_name': 'Post-Transplant Lymphoproliferative Disease', 'score': 0.538467}], 'concepts': [{'id': 'https://openalex.org/C66008609', 'wikidata': 'https://www.wikidata.org/wiki/Q14866113', 'display_name': 'Fas ligand', 'level': 4, 'score': 0.96799934}, {'id': 'https://openalex.org/C2778959938', 'wikidata': 'https://www.wikidata.org/wiki/Q1151300', 'display_name': 'Autoimmune lymphoproliferative syndrome', 'level': 5, 'score': 0.837251}, {'id': 'https://openalex.org/C179464577', 'wikidata': 'https://www.wikidata.org/wiki/Q1632589', 'display_name': 'Jurkat cells', 'level': 4, 'score': 0.59512377}, {'id': 'https://openalex.org/C190283241', 'wikidata': 'https://www.wikidata.org/wiki/Q14599311', 'display_name': 'Apoptosis', 'level': 2, 'score': 0.5879992}, {'id': 'https://openalex.org/C203014093', 'wikidata': 'https://www.wikidata.org/wiki/Q101929', 'display_name': 'Immunology', 'level': 1, 'score': 0.5218348}, {'id': 'https://openalex.org/C501734568', 'wikidata': 'https://www.wikidata.org/wiki/Q42918', 'display_name': 'Mutation', 'level': 3, 'score': 0.48641372}, {'id': 'https://openalex.org/C86803240', 'wikidata': 'https://www.wikidata.org/wiki/Q420', 'display_name': 'Biology', 'level': 0, 'score': 0.48540363}, {'id': 'https://openalex.org/C54009773', 'wikidata': 'https://www.wikidata.org/wiki/Q1429031', 'display_name': 'Transfection', 'level': 3, 'score': 0.46777812}, {'id': 'https://openalex.org/C3031857', 'wikidata': 'https://www.wikidata.org/wiki/Q1649375', 'display_name': 'Fas receptor', 'level': 4, 'score': 0.45598558}, {'id': 'https://openalex.org/C36823959', 'wikidata': 'https://www.wikidata.org/wiki/Q373027', 'display_name': 'Exon', 'level': 3, 'score': 0.44241676}, {'id': 'https://openalex.org/C153911025', 'wikidata': 'https://www.wikidata.org/wiki/Q7202', 'display_name': 'Molecular biology', 'level': 1, 'score': 0.384101}, {'id': 'https://openalex.org/C502942594', 'wikidata': 'https://www.wikidata.org/wiki/Q3421914', 'display_name': 'Cancer research', 'level': 1, 'score': 0.36453763}, {'id': 'https://openalex.org/C2776090121', 'wikidata': 'https://www.wikidata.org/wiki/Q193529', 'display_name': 'T cell', 'level': 3, 'score': 0.35864413}, {'id': 'https://openalex.org/C104317684', 'wikidata': 'https://www.wikidata.org/wiki/Q7187', 'display_name': 'Gene', 'level': 2, 'score': 0.30422395}, {'id': 'https://openalex.org/C31573885', 'wikidata': 'https://www.wikidata.org/wiki/Q304484', 'display_name': 'Programmed cell death', 'level': 3, 'score': 0.29224208}, {'id': 'https://openalex.org/C8891405', 'wikidata': 'https://www.wikidata.org/wiki/Q1059', 'display_name': 'Immune system', 'level': 2, 'score': 0.21451557}, {'id': 'https://openalex.org/C54355233', 'wikidata': 'https://www.wikidata.org/wiki/Q7162', 'display_name': 'Genetics', 'level': 1, 'score': 0.15484953}], 'mesh': [{'descriptor_ui': 'D001327', 'descriptor_name': 'Autoimmune Diseases', 'qualifier_ui': 'Q000235', 'qualifier_name': 'genetics', 'is_major_topic': True}, {'descriptor_ui': 'D006720', 'descriptor_name': 'Homozygote', 'qualifier_ui': '', 'qualifier_name': None, 'is_major_topic': True}, {'descriptor_ui': 'D008232', 'descriptor_name': 'Lymphoproliferative Disorders', 'qualifier_ui': 'Q000235', 'qualifier_name': 'genetics', 'is_major_topic': True}, {'descriptor_ui': 'D008562', 'descriptor_name': 'Membrane Glycoproteins', 'qualifier_ui': 'Q000235', 'qualifier_name': 'genetics', 'is_major_topic': True}, {'descriptor_ui': 'D017354', 'descriptor_name': 'Point Mutation', 'qualifier_ui': '', 'qualifier_name': None, 'is_major_topic': True}, {'descriptor_ui': 'D048069', 'descriptor_name': 'Tumor Necrosis Factors', 'qualifier_ui': 'Q000235', 'qualifier_name': 'genetics', 'is_major_topic': True}, {'descriptor_ui': 'D000328', 'descriptor_name': 'Adult', 'qualifier_ui': '', 'qualifier_name': None, 'is_major_topic': False}, {'descriptor_ui': 'D000818', 'descriptor_name': 'Animals', 'qualifier_ui': '', 'qualifier_name': None, 'is_major_topic': False}, {'descriptor_ui': 'D017209', 'descriptor_name': 'Apoptosis', 'qualifier_ui': 'Q000235', 'qualifier_name': 'genetics', 'is_major_topic': False}, {'descriptor_ui': 'D017209', 'descriptor_name': 'Apoptosis', 'qualifier_ui': '', 'qualifier_name': None, 'is_major_topic': False}, {'descriptor_ui': 'D001327', 'descriptor_name': 'Autoimmune Diseases', 'qualifier_ui': 'Q000276', 'qualifier_name': 'immunology', 'is_major_topic': False}, {'descriptor_ui': 'D001327', 'descriptor_name': 'Autoimmune Diseases', 'qualifier_ui': '', 'qualifier_name': None, 'is_major_topic': False}, {'descriptor_ui': 'D019556', 'descriptor_name': 'COS Cells', 'qualifier_ui': '', 'qualifier_name': None, 'is_major_topic': False}, {'descriptor_ui': 'D002522', 'descriptor_name': 'Chlorocebus aethiops', 'qualifier_ui': '', 'qualifier_name': None, 'is_major_topic': False}, {'descriptor_ui': 'D005091', 'descriptor_name': 'Exons', 'qualifier_ui': 'Q000235', 'qualifier_name': 'genetics', 'is_major_topic': False}, {'descriptor_ui': 'D005091', 'descriptor_name': 'Exons', 'qualifier_ui': 'Q000276', 'qualifier_name': 'immunology', 'is_major_topic': False}, {'descriptor_ui': 'D005091', 'descriptor_name': 'Exons', 'qualifier_ui': '', 'qualifier_name': None, 'is_major_topic': False}, {'descriptor_ui': 'D053222', 'descriptor_name': 'Fas Ligand Protein', 'qualifier_ui': '', 'qualifier_name': None, 'is_major_topic': False}, {'descriptor_ui': 'D005260', 'descriptor_name': 'Female', 'qualifier_ui': '', 'qualifier_name': None, 'is_major_topic': False}, {'descriptor_ui': 'D006801', 'descriptor_name': 'Humans', 'qualifier_ui': '', 'qualifier_name': None, 'is_major_topic': False}, {'descriptor_ui': 'D019169', 'descriptor_name': 'Jurkat Cells', 'qualifier_ui': '', 'qualifier_name': None, 'is_major_topic': False}, {'descriptor_ui': 'D008232', 'descriptor_name': 'Lymphoproliferative Disorders', 'qualifier_ui': 'Q000276', 'qualifier_name': 'immunology', 'is_major_topic': False}, {'descriptor_ui': 'D008232', 'descriptor_name': 'Lymphoproliferative Disorders', 'qualifier_ui': '', 'qualifier_name': None, 'is_major_topic': False}, {'descriptor_ui': 'D008562', 'descriptor_name': 'Membrane Glycoproteins', 'qualifier_ui': 'Q000276', 'qualifier_name': 'immunology', 'is_major_topic': False}, {'descriptor_ui': 'D008562', 'descriptor_name': 'Membrane Glycoproteins', 'qualifier_ui': '', 'qualifier_name': None, 'is_major_topic': False}, {'descriptor_ui': 'D017354', 'descriptor_name': 'Point Mutation', 'qualifier_ui': 'Q000276', 'qualifier_name': 'immunology', 'is_major_topic': False}, {'descriptor_ui': 'D011485', 'descriptor_name': 'Protein Binding', 'qualifier_ui': 'Q000235', 'qualifier_name': 'genetics', 'is_major_topic': False}, {'descriptor_ui': 'D011485', 'descriptor_name': 'Protein Binding', 'qualifier_ui': 'Q000276', 'qualifier_name': 'immunology', 'is_major_topic': False}, {'descriptor_ui': 'D011485', 'descriptor_name': 'Protein Binding', 'qualifier_ui': '', 'qualifier_name': None, 'is_major_topic': False}, {'descriptor_ui': 'D017434', 'descriptor_name': 'Protein Structure, Tertiary', 'qualifier_ui': 'Q000235', 'qualifier_name': 'genetics', 'is_major_topic': False}, {'descriptor_ui': 'D017434', 'descriptor_name': 'Protein Structure, Tertiary', 'qualifier_ui': '', 'qualifier_name': None, 'is_major_topic': False}, {'descriptor_ui': 'D013577', 'descriptor_name': 'Syndrome', 'qualifier_ui': '', 'qualifier_name': None, 'is_major_topic': False}, {'descriptor_ui': 'D013601', 'descriptor_name': 'T-Lymphocytes', 'qualifier_ui': 'Q000276', 'qualifier_name': 'immunology', 'is_major_topic': False}, {'descriptor_ui': 'D013601', 'descriptor_name': 'T-Lymphocytes', 'qualifier_ui': '', 'qualifier_name': None, 'is_major_topic': False}, {'descriptor_ui': 'D048069', 'descriptor_name': 'Tumor Necrosis Factors', 'qualifier_ui': 'Q000276', 'qualifier_name': 'immunology', 'is_major_topic': False}, {'descriptor_ui': 'D048069', 'descriptor_name': 'Tumor Necrosis Factors', 'qualifier_ui': '', 'qualifier_name': None, 'is_major_topic': False}, {'descriptor_ui': 'D019014', 'descriptor_name': 'fas Receptor', 'qualifier_ui': 'Q000235', 'qualifier_name': 'genetics', 'is_major_topic': False}, {'descriptor_ui': 'D019014', 'descriptor_name': 'fas Receptor', 'qualifier_ui': 'Q000276', 'qualifier_name': 'immunology', 'is_major_topic': False}, {'descriptor_ui': 'D019014', 'descriptor_name': 'fas Receptor', 'qualifier_ui': '', 'qualifier_name': None, 'is_major_topic': False}], 'locations_count': 2, 'locations': [{'is_oa': True, 'landing_page_url': 'https://doi.org/10.1182/blood-2006-04-015776', 'pdf_url': 'https://ashpublications.org/blood/article-pdf/108/4/1306/1283357/zh801606001306.pdf', 'source': {'id': 'https://openalex.org/S200071133', 'display_name': 'Blood', 'issn_l': '0006-4971', 'issn': ['0006-4971', '1528-0020'], 'is_oa': False, 'is_in_doaj': False, 'is_core': True, 'host_organization': 'https://openalex.org/P4310320990', 'host_organization_name': 'Elsevier BV', 'host_organization_lineage': ['https://openalex.org/P4310320990'], 'host_organization_lineage_names': ['Elsevier BV'], 'type': 'journal'}, 'license': None, 'license_id': None, 'version': 'publishedVersion', 'is_accepted': True, 'is_published': True}, {'is_oa': False, 'landing_page_url': 'https://pubmed.ncbi.nlm.nih.gov/16627752', 'pdf_url': None, 'source': {'id': 'https://openalex.org/S4306525036', 'display_name': 'PubMed', 'issn_l': None, 'issn': None, 'is_oa': False, 'is_in_doaj': False, 'is_core': False, 'host_organization': 'https://openalex.org/I1299303238', 'host_organization_name': 'National Institutes of Health', 'host_organization_lineage': ['https://openalex.org/I1299303238'], 'host_organization_lineage_names': ['National Institutes of Health'], 'type': 'repository'}, 'license': None, 'license_id': None, 'version': None, 'is_accepted': False, 'is_published': False}], 'best_oa_location': {'is_oa': True, 'landing_page_url': 'https://doi.org/10.1182/blood-2006-04-015776', 'pdf_url': 'https://ashpublications.org/blood/article-pdf/108/4/1306/1283357/zh801606001306.pdf', 'source': {'id': 'https://openalex.org/S200071133', 'display_name': 'Blood', 'issn_l': '0006-4971', 'issn': ['0006-4971', '1528-0020'], 'is_oa': False, 'is_in_doaj': False, 'is_core': True, 'host_organization': 'https://openalex.org/P4310320990', 'host_organization_name': 'Elsevier BV', 'host_organization_lineage': ['https://openalex.org/P4310320990'], 'host_organization_lineage_names': ['Elsevier BV'], 'type': 'journal'}, 'license': None, 'license_id': None, 'version': 'publishedVersion', 'is_accepted': True, 'is_published': True}, 'sustainable_development_goals': [{'score': 0.41, 'display_name': 'Good health and well-being', 'id': 'https://metadata.un.org/sdg/3'}], 'grants': [], 'datasets': [], 'versions': [], 'referenced_works_count': 35, 'referenced_works': ['https://openalex.org/W1567676800', 'https://openalex.org/W1607850601', 'https://openalex.org/W1615638781', 'https://openalex.org/W1662505552', 'https://openalex.org/W19051162', 'https://openalex.org/W1967941999', 'https://openalex.org/W1973298156', 'https://openalex.org/W1975591754', 'https://openalex.org/W1977318718', 'https://openalex.org/W2004645606', 'https://openalex.org/W2006929002', 'https://openalex.org/W2025044046', 'https://openalex.org/W2028111124', 'https://openalex.org/W2028155932', 'https://openalex.org/W2041466047', 'https://openalex.org/W2050927367', 'https://openalex.org/W2065413461', 'https://openalex.org/W2074280352', 'https://openalex.org/W2079657717', 'https://openalex.org/W2085173450', 'https://openalex.org/W2089244519', 'https://openalex.org/W2090134934', 'https://openalex.org/W2109637491', 'https://openalex.org/W2112675349', 'https://openalex.org/W2130979242', 'https://openalex.org/W2137694849', 'https://openalex.org/W2146203649', 'https://openalex.org/W2153850116', 'https://openalex.org/W2154757961', 'https://openalex.org/W2159531745', 'https://openalex.org/W2159719957', 'https://openalex.org/W2169439167', 'https://openalex.org/W2179862924', 'https://openalex.org/W2332960463', 'https://openalex.org/W4238704139'], 'related_works': ['https://openalex.org/W2360377357', 'https://openalex.org/W2229931966', 'https://openalex.org/W2162588193', 'https://openalex.org/W2110320544', 'https://openalex.org/W2106628261', 'https://openalex.org/W2085173450', 'https://openalex.org/W2009754571', 'https://openalex.org/W2002733542', 'https://openalex.org/W1989802150', 'https://openalex.org/W1981915135'], 'abstract_inverted_index': {'Abstract': [0], 'Autoimmune': [1], 'lymphoproliferative': [2, 175], 'syndrome': [3], '(ALPS)': [4], 'is': [5, 14], 'characterized': [6], 'by': [7, 17], 'lymphoproliferation': [8], 'and': [9, 13, 35, 58, 131, 177], 'autoimmune': [10], 'clinical': [11, 34], 'manifestations': [12], 'generally': [15], 'caused': [16], 'defective': [18], 'Fas-mediated': [19], 'apoptosis.': [20], 'This': [21], 'report': [22], 'describes': [23], 'the': [24, 43, 75, 86, 100, 105, 110, 127, 132, 135, 149, 180, 186], 'first': [25], 'homozygous': [26], 'FASL': [27, 106, 112, 167], 'gene': [28, 113], 'mutation': [29, 117], 'in': [30, 70, 93, 104, 118, 126, 142, 157], 'a': [31, 94, 115, 183, 192], 'woman': [32], 'with': [33, 74], 'immunologic': [36], 'features': [37], 'of': [38, 109, 124, 134, 138, 152, 185], 'ALPS.': [39], 'T-cell': [40, 83], 'blasts': [41, 84], 'from': [42, 85, 146], 'patient': [44, 87], 'did': [45], 'not': [46], 'induce': [47], 'FasL-mediated': [48], 'apoptosis': [49, 172], 'on': [50, 55, 82], 'Fas-transfected': [51], 'murine': [52], 'L1210': [53], 'or': [54], 'Jurkat': [56], 'cells,': [57], 'activation-induced': [59], 'cell': [60], 'death': [61], 'was': [62, 67, 88], 'impaired.': [63], 'Furthermore,': [64], 'Fas-dependent': [65], 'cytotoxicity': [66], 'drastically': [68], 'reduced': [69], 'COS': [71], 'cells': [72], 'transfected': [73], 'mutant': [76], 'FasL.': [77], 'In': [78], 'addition,': [79], 'FasL': [80, 128, 153], 'expression': [81], 'similar': [89], 'to': [90, 190], 'that': [91, 139, 164], 'observed': [92], 'healthy': [95], 'control,': [96], 'despite': [97], 'its': [98], 'bearing': [99], 'high-producer': [101], 'genotype': [102], '–844C/C': [103], 'promoter.': [107], 'Sequencing': [108], "patient's": [111], 'revealed': [114], 'new': [116, 193], 'exon': [119], '4': [120], '(A247E).': [121], 'The': [122], 'location': [123], 'A247E': [125], 'extracellular': [129], 'domain': [130, 156], 'conservation': [133], 'protein': [136], 'sequence': [137], 'region': [140], 'recorded': [141], '8': [143], 'species': [144], 'different': [145], 'humans': [147], 'support': [148], 'essential': [150], 'role': [151], 'COOH': [154], 'terminal': [155], 'Fas/FasL': [158], 'binding.': [159], 'These': [160], 'findings': [161], 'provide': [162], 'evidence': [163], 'inherited': [165], 'nonlethal': [166], 'abnormalities': [168], 'cause': [169], 'an': [170], 'uncommon': [171], 'defect': [173], 'producing': [174], 'disease,': [176], 'they': [178], 'highlight': [179], 'need': [181], 'for': [182], 'review': [184], 'current': [187], 'ALPS': [188, 194], 'classification': [189], 'include': [191], 'type': [195], 'Ic': [196], 'subgroup.': [197]}, 'cited_by_api_url': 'https://api.openalex.org/works?filter=cites:W2162588193', 'counts_by_year': [{'year': 2024, 'cited_by_count': 2}, {'year': 2023, 'cited_by_count': 7}, {'year': 2022, 'cited_by_count': 6}, {'year': 2021, 'cited_by_count': 11}, {'year': 2020, 'cited_by_count': 4}, {'year': 2019, 'cited_by_count': 6}, {'year': 2018, 'cited_by_count': 5}, {'year': 2017, 'cited_by_count': 4}, {'year': 2016, 'cited_by_count': 12}, {'year': 2015, 'cited_by_count': 6}, {'year': 2014, 'cited_by_count': 4}, {'year': 2013, 'cited_by_count': 8}, {'year': 2012, 'cited_by_count': 3}], 'updated_date': '2024-09-18T16:07:56.635748', 'created_date': '2016-06-24'}