@article{05ee1e5b24064052babea835c50feb7a,
title = "A new candidate region for the positional cloning of the XLP gene",
abstract = "X-linked lymphoproliferative disease (XLP) is an inherited immunodeficiency characterised by selective susceptibility to Epstein-Barr virus and frequent association with malignant lymphomas chiefly located in the ileocecal region, liver, kidney and CNS. Taking advantage of a large bacterial clone contig, we obtained a genomic sequence of 197620 bp encompassing a deletion (XLP-D) of 116 kb in an XLP family, whose breakpoints were identified. The study of potential exons from this region in 40 unrelated XLP patients did not reveal any mutation. To define the critical region for XLP and investigate the role of the XLP-D deletion, detailed haplotypes in a region of approximately 20 cM were reconstructed in a total of 87 individuals from 7 families with recurrence of XLP. Two recombination events in a North American family and a new microdeletion (XLP-G) in an Italian family indicate that the XLP gene maps in the interval between DXS1001 and DXS8057, approximately 800 kb centromeric to the previously reported familial microdeletion XLP-D.",
keywords = "Epstein-Barr virus, Familial microdeletions, Immunodeficiency, Intestinal lymphomas",
author = "Alessandra Bolino and Luo Yin and Marco Seri and Roberto Cusano and Roberta Cinti and Alison Coffey and Robert Brooksbank and Gareth Howell and David Bentley and Davis, {Jack R.} and Arpad Lanyi and Doli Huang and Markus Stark and Martina Creaven and Lise Bj{\o}rkhaug and Fabrice Heitzmann and J{\'e}r{\^o}me Lamartine and Simona Gaudi and Sylla, {Bakary S.} and Lenoir, {Gilbert M.} and Elio Castagnola and Raffaella Giacchino and Giovanni Porta and Brunella Franco and Massimo Zollo and Janos Sumegi and Giovanni Romeo",
note = "Funding Information: We acknowledge Ms Monica Scaranari (Gaslini, Genova), Ms Laetitia Boutrand, Mrs Marie-France Lavou{\'e}, Mrs Suzanne Pauly, Ms Tatiana Tocco, Ms H{\'e}l{\`e}ne Delage (IARC, Lyon) for their technical assistance, and Dr Gyorgy Simon for supporting, maintaining data bases and developing the cgi-bin interface for RepMask at TIGEM. We thank Dr Mita Mancini (the YAC screening centre DIBIT, Milan) for providing the PAC library RPCI-5, Dr Tiziana Musso (Turin, Italy) for providing total RNA from human monocyte cell line. This work was supported in part by Ligue National Franc¸aise contre le Cancer (LIGUE), Comit{\'e} D{\'e}partemental du Rh{\^o}ne. GP was funded by grants from the Associazione Italiana per La Ricerca sul Cancro (AIRC) and from the Italian TELETHON (E294). The work carried out at the Sanger Centre was supported by the Wellcome Trust. JS was supported by NIH grant 1RO1 AI33532OIA3. AB and FH were supported by fellowships from the LIGUE and FH also by an ARC fellowship and a IARC Special Training Award.",
year = "1998",
doi = "10.1038/sj.ejhg.5200249",
language = "English (US)",
volume = "6",
pages = "509--517",
journal = "European Journal of Human Genetics",
issn = "1018-4813",
publisher = "Springer Nature",
number = "5",
}