{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,1,6]],"date-time":"2026-01-06T13:50:12Z","timestamp":1767707412809},"reference-count":31,"publisher":"Oxford University Press (OUP)","issue":"2","license":[{"start":{"date-parts":[[2001,8,1]],"date-time":"2001-08-01T00:00:00Z","timestamp":996624000000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/academic.oup.com\/journals\/pages\/open_access\/funder_policies\/chorus\/standard_publication_model"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":[],"published-print":{"date-parts":[[2001,12,20]]},"abstract":"<jats:title>Summary<\/jats:title><jats:p>In this paper we describe the clinical and molecular features of a new case (GOR) of homozygous human TAP2 deficiency, analysing the phenotype and function of NK cells. The patient presented from infancy with recurrent sinopulmonary infections; a selective IgG2 deficiency, negative antibody response to polysaccharide vaccination and low level of cell surface expression of HLA class I antigens were found. The sequence of TAP2 gene identified a single mutation, a C to T substitution changing the CGA arg codon at amino acid 220 into TGA stop codon in exon 3. By using MoAbs for KIRs, CD94, CD94\/NKG2A and ILT2 we observed, in agreement with others, that the latter two receptors were overexpressed on TAP2-deficient NK cells. The inhibitory CD94\/NKG2A and triggering CD94\/NKG2C NK receptors, specific for HLA-E, appeared to be functional in a limited number of NK clones that could be expanded in vitro. Expression of HLA-E was virtually undetectable in GOR B-LCL and very faint in PBMC, further supporting that interactions of class I leader sequence nonamers with HLA-E in the ER depend on a functional TAP complex.<\/jats:p>","DOI":"10.1046\/j.1365-2249.2001.01595.x","type":"journal-article","created":{"date-parts":[[2003,3,11]],"date-time":"2003-03-11T10:27:52Z","timestamp":1047378472000},"page":"274-282","source":"Crossref","is-referenced-by-count":26,"title":["Molecular studies and NK cell function of a new case of TAP2 homozygous human deficiency"],"prefix":"10.1093","volume":"125","author":[{"given":"N","family":"Matamoros","sequence":"first","affiliation":[{"name":"Servicio de Inmunolog\u00eda, &#x2028;Hospital Universitario Son Dureta, Andrea Doria, Palma de Mallorca, Spain"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"J","family":"Mil\u00e0","sequence":"additional","affiliation":[{"name":"Servicio de Inmunolog\u00eda, &#x2028;Hospital Universitario Son Dureta, Andrea Doria, Palma de Mallorca, Spain"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"M","family":"Llano","sequence":"additional","affiliation":[{"name":"Servicio de Inmunolog\u00eda, &#x2028;Hospital Universitario de la Princesa, Madrid, Spain"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"A","family":"Balas","sequence":"additional","affiliation":[{"name":"Centro de Transfusi\u00f3n de la Comunidad de Madrid, &#x2028;Madrid, Spain"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"J L","family":"Vicario","sequence":"additional","affiliation":[{"name":"Centro de Transfusi\u00f3n de la Comunidad de Madrid, &#x2028;Madrid, Spain"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"J","family":"Pons","sequence":"additional","affiliation":[{"name":"Servicio de Inmunolog\u00eda, &#x2028;Hospital Universitario Son Dureta, Andrea Doria, Palma de Mallorca, Spain"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"C","family":"Cresp\u00ed","sequence":"additional","affiliation":[{"name":"Servicio de Inmunolog\u00eda, &#x2028;Hospital Universitario Son Dureta, Andrea Doria, Palma de Mallorca, Spain"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"N","family":"Martinez","sequence":"additional","affiliation":[{"name":"Servicio de Inmunolog\u00eda, &#x2028;Hospital Universitario Son Dureta, Andrea Doria, Palma de Mallorca, Spain"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"J","family":"Iglesias-Alzueta","sequence":"additional","affiliation":[{"name":"Servicio de Inmunolog\u00eda, &#x2028;Hospital Universitario Son Dureta, Andrea Doria, Palma de Mallorca, Spain"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"M","family":"L\u00f3pez-Botet","sequence":"additional","affiliation":[{"name":"Servicio de Inmunolog\u00eda, &#x2028;Hospital Universitario de la Princesa, Madrid, Spain"}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"286","published-online":{"date-parts":[[2001,12,20]]},"reference":[{"key":"2022011306430633700_b1","doi-asserted-by":"crossref","first-page":"47","DOI":"10.1016\/S0022-3476(78)80598-8","article-title":"Combined immunodeficiency disease associated with absence of cell surface HLA-A and B antigens","volume":"93","author":"Touraine","year":"1978","journal-title":"J Pediatr"},{"key":"2022011306430633700_b2","doi-asserted-by":"crossref","first-page":"219","DOI":"10.1016\/0198-8859(83)90095-2","article-title":"Bare lymphocytes without immunodeficiency","volume":"6","author":"Payne","year":"1983","journal-title":"Hum Immunol"},{"key":"2022011306430633700_b3","doi-asserted-by":"crossref","first-page":"237","DOI":"10.1126\/science.7517574","article-title":"Homozygous human TAP peptide transporter mutation in HLA class I deficiency","volume":"265","author":"De la Salle","year":"1994","journal-title":"Science"},{"key":"2022011306430633700_b4","doi-asserted-by":"crossref","first-page":"895","DOI":"10.1016\/S0022-3476(95)70024-2","article-title":"Association of HLA class I antigen deficiency related to TAP2 gene mutation with familial bronchiectasis","volume":"127","author":"Donato","year":"1995","journal-title":"J Pediatr"},{"key":"2022011306430633700_b5","doi-asserted-by":"crossref","first-page":"715","DOI":"10.1016\/S0161-5890(98)90372-8","article-title":"Clinical and molecular studies of a new case of TAP peptide transporter deficiency. 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