{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,11,6]],"date-time":"2025-11-06T11:52:48Z","timestamp":1762429968603},"reference-count":17,"publisher":"Wiley","issue":"5","license":[{"start":{"date-parts":[[2005,6,7]],"date-time":"2005-06-07T00:00:00Z","timestamp":1118102400000},"content-version":"vor","delay-in-days":3529,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Am. J. Med. Genet."],"published-print":{"date-parts":[[1995,10,9]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:p>We report two sisters in a family representing manifestations of Wiskott\u2010Aldrich syndrome' (WAS), an X\u2010linked immunodeficiency disorder. An elder sister had suffered from recurrent infections, small thrombocy\u2010topenic petechiae, purpura, and eczema for 7 years. The younger sister had the same manifestations as the elder sister's for a 2\u2010year period, and died of intracranial bleeding at age 2 years. All the laboratory data of the two patients were compatible with WAS, although they were females. Sialophorin analysis with the selective radioactive labeling method of this protein revealed that in the elder sister a 115\u2010KD band that should be specific for sialophorin was reduced in quantity, and instead an additional 135\u2010KD fragment was present as a main band. Poly\u2010merase chain reaction (PCR) analysis of the sialophorin gene and single\u2010strand conformation polymorphism (SSCP) analysis of the PCR product demonstrated that there were no detectable size\u2010change nor elec\u2010trophoretic mobility change in the DNA from both patients. The results indicated that their sialophorin gene structure might be normal. Studies on the mother\u2010daughter transmission of X chromosome using a <jats:italic>pERT84\u2010Mae<\/jats:italic>III polymorphic marker mapped at Xp21 and HPRT gene polymorphism at Xq26 suggested that each sister had inherited a different X chromosome from the mother. Two explanations are plausible for the occurrence of the WAS in our patients: the WAS in the patients is attributable to an autosomal gene mutation which may regulate the sialophorin gene expression through the WAS gene, or, alternatively, the condition in this family is an autosomal recessive disorder separated etiologically from the X\u2010linked WAS. \u00a9 1995 Wiley\u2010Liss, Inc.<\/jats:p>","DOI":"10.1002\/ajmg.1320600504","type":"journal-article","created":{"date-parts":[[2005,6,11]],"date-time":"2005-06-11T18:21:27Z","timestamp":1118514087000},"page":"364-369","source":"Crossref","is-referenced-by-count":12,"title":["Two sisters with clinical diagnosis of Wiskott\u2010Aldrich syndrome: Is the condition in the family autosomal recessive?"],"prefix":"10.1002","volume":"60","author":[{"given":"T.","family":"Kondoh","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"K.","family":"Hayashi","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"T.","family":"Matsumoto","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"M.","family":"Yoshimoto","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"T.","family":"Morio","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"J.","family":"Yata","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Y.","family":"Tsuji","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"311","published-online":{"date-parts":[[2005,6,7]]},"reference":[{"key":"e_1_2_1_2_1","doi-asserted-by":"crossref","first-page":"1264","DOI":"10.1182\/blood.V80.5.1264.1264","article-title":"Atypical Wiskott\u2010Aldrich syndrome in a girl","volume":"80","author":"Conley ME","year":"1992","journal-title":"Blood"},{"key":"e_1_2_1_3_1","doi-asserted-by":"publisher","DOI":"10.1016\/0092-8674(94)90528-2"},{"key":"e_1_2_1_4_1","doi-asserted-by":"publisher","DOI":"10.1136\/adc.45.242.527"},{"key":"e_1_2_1_5_1","doi-asserted-by":"publisher","DOI":"10.1016\/S0021-9258(17)40107-4"},{"key":"e_1_2_1_6_1","first-page":"1663","article-title":"London Conference","volume":"58","year":"1991","journal-title":"Cyto\u2010genet Cell Genet"},{"key":"e_1_2_1_7_1","doi-asserted-by":"publisher","DOI":"10.1016\/0888-7543(91)90480-3"},{"key":"e_1_2_1_8_1","first-page":"74","article-title":"Acute immune complex mediated glomeru\u2010lonephritis in a Chinese girl with Wiskott\u2010Aldrich syndrome in variant","volume":"53","author":"Lin CY","year":"1984","journal-title":"Ann Allergy"},{"key":"e_1_2_1_9_1","doi-asserted-by":"publisher","DOI":"10.1016\/0888-7543(89)90129-8"},{"key":"e_1_2_1_10_1","doi-asserted-by":"publisher","DOI":"10.1073\/pnas.86.4.1328"},{"key":"e_1_2_1_11_1","doi-asserted-by":"publisher","DOI":"10.1038\/350706a0"},{"key":"e_1_2_1_12_1","doi-asserted-by":"publisher","DOI":"10.1172\/JCI112852"},{"key":"e_1_2_1_13_1","first-page":"151","article-title":"Sialophorin (CD43) and the Wiskott\u2010Aldrich syndrome","volume":"2","author":"Remold\u2010O'Donnell E","year":"1990","journal-title":"Immunodefic Rev"},{"key":"e_1_2_1_14_1","doi-asserted-by":"publisher","DOI":"10.1182\/blood.V79.7.1754.1754"},{"key":"e_1_2_1_15_1","doi-asserted-by":"publisher","DOI":"10.1038\/354233a0"},{"key":"e_1_2_1_16_1","doi-asserted-by":"publisher","DOI":"10.1073\/pnas.86.8.2819"},{"key":"e_1_2_1_17_1","doi-asserted-by":"publisher","DOI":"10.1042\/bj2700569"},{"key":"e_1_2_1_18_1","doi-asserted-by":"publisher","DOI":"10.1111\/j.1600-0609.1989.tb01479.x"}],"container-title":["American Journal of Medical Genetics"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/api.wiley.com\/onlinelibrary\/tdm\/v1\/articles\/10.1002%2Fajmg.1320600504","content-type":"unspecified","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1002\/ajmg.1320600504","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2023,10,25]],"date-time":"2023-10-25T16:59:32Z","timestamp":1698253172000},"score":1,"resource":{"primary":{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/10.1002\/ajmg.1320600504"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[1995,10,9]]},"references-count":17,"journal-issue":{"issue":"5","published-print":{"date-parts":[[1995,10,9]]}},"alternative-id":["10.1002\/ajmg.1320600504"],"URL":"https:\/\/doi.org\/10.1002\/ajmg.1320600504","archive":["Portico"],"relation":{},"ISSN":["0148-7299","1096-8628"],"issn-type":[{"value":"0148-7299","type":"print"},{"value":"1096-8628","type":"electronic"}],"subject":[],"published":{"date-parts":[[1995,10,9]]}}}