WHO Nomenclature Research Articles

Nomenclature for factors of the HLA system, update January 2017.

HLAVolume 90, Issue 1 p. 56-61 NOMENCLATURE UPDATE Nomenclature for factors of the HLA system, update January 2017 Compiled by S. G. E. Marsh, Corresponding Author S. G. E. Marsh steven.marsh@ucl.ac.uk Correspondence Professor Steven G. E. Marsh, Anthony Nolan Research Institute, Royal Free Hospital, Pond Street, London NW3 2QG, UK. Email: steven.marsh@ucl.ac.uk; URLs: hla.alleles.org, www.anthonynolan.org/hig; www.ebi.ac.uk/ipd/imgt/hlaSearch for more papers by this authorby the WHO Nomenclature Committee for Factors of the HLA System, by the WHO Nomenclature Committee for Factors of the HLA SystemSearch for more papers by this author Compiled by S. G. E. Marsh, Corresponding Author S. G. E. Marsh steven.marsh@ucl.ac.uk Correspondence Professor Steven G. E. Marsh, Anthony Nolan Research Institute, Royal Free Hospital, Pond Street, London NW3 2QG, UK. Email: steven.marsh@ucl.ac.uk; URLs: hla.alleles.org, www.anthonynolan.org/hig; www.ebi.ac.uk/ipd/imgt/hlaSearch for more papers by this authorby the WHO Nomenclature Committee for Factors of the HLA System, by the WHO Nomenclature Committee for Factors of the HLA SystemSearch for more papers by this author First published: 09 June 2017 https://doi.org/10.1111/tan.13052Citations: 1Read the full textAboutPDF ToolsRequest permissionExport citationAdd to favoritesTrack citation ShareShare Give accessShare full text accessShare full-text accessPlease review our Terms and Conditions of Use and check box below to share full-text version of article.I have read and accept the Wiley Online Library Terms and Conditions of UseShareable LinkUse the link below to share a full-text version of this article with your friends and colleagues. Learn more.Copy URL Share a linkShare onFacebookTwitterLinkedInRedditWechat Citing Literature Volume90, Issue1July 2017Pages 56-61 RelatedInformation

Sporadic pediatric meningiomas: a neuroradiological and neuropathological study of 15 cases.

OBJECTIVE Sporadic meningiomas have been classified in many different ways. Radiographically, these lesions can be described as occurring in either typical or atypical locations. The purpose of this study was to determine if there are any histopathological differences between sporadic meningiomas that arise in these varying locations in children. METHODS The neuroimaging, histopathological findings, and clinical records in patients with sporadic pediatric meningiomas not associated with neurofibromatosis Type 2 or prior radiation therapy were retrospectively reviewed. Tumors were classified by radiological findings as either typical or atypical, and they were categorized histopathologically by using the latest WHO nomenclature and grading criteria. RESULTS Fifteen sporadic meningiomas in pediatric patients were biopsied or resected at the authors' institution between 1989 and 2013. Five (33%) were typical in radiographic appearance and/or location and 10 (67%) were atypical. Four (80%) typical meningiomas were WHO Grade I tumors. Most (60%) of the atypical meningiomas were WHO Grade II or III. CONCLUSIONS This study is the largest series of sporadic pediatric meningiomas in atypical locations to date. Although sporadic meningiomas are relatively infrequent in children, those with atypical imaging, specifically those with apparently intraparenchymal and intraosseous locations, may be more common than previously recognized. In this study, pediatric sporadic meningiomas arising in atypical locations, in particular intraparenchymal meningiomas, may be of higher histopathological grade. The authors' findings should alert clinicians to the potential for more aggressive clinical behavior in these tumors.

Nomenclature for factors of the HLA system, update November 2016.

HLAVolume 89, Issue 3 p. 190-197 Nomenclature Update Nomenclature for factors of the HLA system, update November 2016 Compiled by Steven G. E. Marsh, Corresponding Author Steven G. E. Marsh steven.marsh@ucl.ac.uk Correspondence Prof Steven GE Marsh, Anthony Nolan Research Institute, Royal Free Hospital, Pond Street, London NW3 2QG, UK. Email: steven.marsh@ucl.ac.uk; URLs: hla.alleles.org; www.anthonynolan.org/hig; www.ebi.ac.uk/ipd/imgt/hlaSearch for more papers by this authorfor the WHO Nomenclature Committee for Factors of the HLA System, WHO Nomenclature Committee for Factors of the HLA SystemSearch for more papers by this author Compiled by Steven G. E. Marsh, Corresponding Author Steven G. E. Marsh steven.marsh@ucl.ac.uk Correspondence Prof Steven GE Marsh, Anthony Nolan Research Institute, Royal Free Hospital, Pond Street, London NW3 2QG, UK. Email: steven.marsh@ucl.ac.uk; URLs: hla.alleles.org; www.anthonynolan.org/hig; www.ebi.ac.uk/ipd/imgt/hlaSearch for more papers by this authorfor the WHO Nomenclature Committee for Factors of the HLA System, WHO Nomenclature Committee for Factors of the HLA SystemSearch for more papers by this author First published: 20 February 2017 https://doi.org/10.1111/tan.12976Citations: 5Read the full textAboutPDF ToolsRequest permissionExport citationAdd to favoritesTrack citation ShareShare Give accessShare full text accessShare full-text accessPlease review our Terms and Conditions of Use and check box below to share full-text version of article.I have read and accept the Wiley Online Library Terms and Conditions of UseShareable LinkUse the link below to share a full-text version of this article with your friends and colleagues. Learn more.Copy URL Share a linkShare onFacebookTwitterLinkedInRedditWechat Citing Literature Volume89, Issue3March 2017Pages 190-197 RelatedInformation

Nomenclature for factors of the HLA system, update October 2016.

HLAVolume 89, Issue 3 p. 177-189 Nomenclature Update Nomenclature for factors of the HLA system, update October 2016 Compiled by Steven G. E. Marsh, Corresponding Author Steven G. E. Marsh steven.marsh@ucl.ac.uk Correspondence Prof Steven G. E. Marsh, Anthony Nolan Research Institute, Royal Free Hospital, Pond Street, London NW3 2QG, UK. Email: steven.marsh@ucl.ac.uk; URLs: hla.alleles.org; www.anthonynolan.org/hig; www.ebi.ac.uk/ipd/imgt/hlaSearch for more papers by this authorfor the WHO Nomenclature Committee for Factors of the HLA System, WHO Nomenclature Committee for Factors of the HLA SystemSearch for more papers by this author Compiled by Steven G. E. Marsh, Corresponding Author Steven G. E. Marsh steven.marsh@ucl.ac.uk Correspondence Prof Steven G. E. Marsh, Anthony Nolan Research Institute, Royal Free Hospital, Pond Street, London NW3 2QG, UK. Email: steven.marsh@ucl.ac.uk; URLs: hla.alleles.org; www.anthonynolan.org/hig; www.ebi.ac.uk/ipd/imgt/hlaSearch for more papers by this authorfor the WHO Nomenclature Committee for Factors of the HLA System, WHO Nomenclature Committee for Factors of the HLA SystemSearch for more papers by this author First published: 20 February 2017 https://doi.org/10.1111/tan.12975Citations: 1Read the full textAboutPDF ToolsRequest permissionExport citationAdd to favoritesTrack citation ShareShare Give accessShare full text accessShare full-text accessPlease review our Terms and Conditions of Use and check box below to share full-text version of article.I have read and accept the Wiley Online Library Terms and Conditions of UseShareable LinkUse the link below to share a full-text version of this article with your friends and colleagues. Learn more.Copy URL Share a linkShare onFacebookTwitterLinkedInRedditWechat Citing Literature Volume89, Issue3March 2017Pages 177-189 RelatedInformation

Nomenclature for factors of the HLA system, update December 2016

HLAVolume 89, Issue 3 p. 198-205 Nomenclature Update Nomenclature for factors of the HLA system, update December 2016 Compiled by Steven G. E. Marsh, Corresponding Author Steven G. E. Marsh steven.marsh@ucl.ac.uk Correspondence Prof Steven G. E. Marsh, Anthony Nolan Research Institute, Royal Free Hospital, Pond Street, London NW3 2QG, UK. Email: steven.marsh@ucl.ac.uk; URLs: hla.alleles.org; www.anthonynolan.org/hig; www.ebi.ac.uk/ipd/imgt/hlaSearch for more papers by this authorfor the WHO Nomenclature Committee for Factors of the HLA System, WHO Nomenclature Committee for Factors of the HLA SystemSearch for more papers by this author Compiled by Steven G. E. Marsh, Corresponding Author Steven G. E. Marsh steven.marsh@ucl.ac.uk Correspondence Prof Steven G. E. Marsh, Anthony Nolan Research Institute, Royal Free Hospital, Pond Street, London NW3 2QG, UK. Email: steven.marsh@ucl.ac.uk; URLs: hla.alleles.org; www.anthonynolan.org/hig; www.ebi.ac.uk/ipd/imgt/hlaSearch for more papers by this authorfor the WHO Nomenclature Committee for Factors of the HLA System, WHO Nomenclature Committee for Factors of the HLA SystemSearch for more papers by this author First published: 20 February 2017 https://doi.org/10.1111/tan.12977Citations: 1Read the full textAboutPDF ToolsRequest permissionExport citationAdd to favoritesTrack citation ShareShare Give accessShare full text accessShare full-text accessPlease review our Terms and Conditions of Use and check box below to share full-text version of article.I have read and accept the Wiley Online Library Terms and Conditions of UseShareable LinkUse the link below to share a full-text version of this article with your friends and colleagues. Learn more.Copy URL Share a linkShare onFacebookTwitterLinkedInRedditWechat Citing Literature Volume89, Issue3March 2017Pages 198-205 RelatedInformation

Identification of a novel HLA allele A*29:49 using sequence based typing

To report on a novel HLA-A allele, A*29:49, identified in a Chinese Han population by sequence based typing (SBT). A donor from China Marrow Donor Programme (CMDP) was typed with a bi-allelic PCR-SBT kit, and no full matched result was obtained for the HLA-A locus. The novel HLA allele was verified with an allele-specific amplification SBT kit. A novel HLA-A allele was identified, which has differed by one nucleotide from the closest matched allele, HLA-A*29:01:01:01, at position 368(A→T), codon 99 (TAT→TTT), resulting in an amino acid substitution (Y→F). Another allele was verified as A*02:06:01. A novel HLA-A allele was identified and officially named as HLA-A*29:49 by the WHO Nomenclature Committee for Factors of the HLA System.

Nomenclature for factors of the HLA system, update September 2016.

HLAVolume 88, Issue 6 p. 334-341 Nomenclature update Nomenclature for factors of the HLA system, update September 2016 Compiled by Steven G. E. Marsh, Corresponding Author Steven G. E. Marsh steven.marsh@ucl.ac.uk Correspondence: Professor Steven GE Marsh, Anthony Nolan Research Institute, Royal Free Hospital, Pond Street, London NW3 2QG, UK. Tel.: +44 20 7284 8321; Fax: +44 20 7284 8331; e-mail: steven.marsh@ucl.ac.uk; URLs: hla.alleles.org; www.anthonynolan.org/hig; www.ebi.ac.uk/ipd/imgt/hlaSearch for more papers by this authorfor the WHO Nomenclature Committee for Factors of the HLA System, for the WHO Nomenclature Committee for Factors of the HLA SystemSearch for more papers by this author Compiled by Steven G. E. Marsh, Corresponding Author Steven G. E. Marsh steven.marsh@ucl.ac.uk Correspondence: Professor Steven GE Marsh, Anthony Nolan Research Institute, Royal Free Hospital, Pond Street, London NW3 2QG, UK. Tel.: +44 20 7284 8321; Fax: +44 20 7284 8331; e-mail: steven.marsh@ucl.ac.uk; URLs: hla.alleles.org; www.anthonynolan.org/hig; www.ebi.ac.uk/ipd/imgt/hlaSearch for more papers by this authorfor the WHO Nomenclature Committee for Factors of the HLA System, for the WHO Nomenclature Committee for Factors of the HLA SystemSearch for more papers by this author First published: 10 November 2016 https://doi.org/10.1111/tan.12929Citations: 2Read the full textAboutPDF ToolsRequest permissionExport citationAdd to favoritesTrack citation ShareShare Give accessShare full text accessShare full-text accessPlease review our Terms and Conditions of Use and check box below to share full-text version of article.I have read and accept the Wiley Online Library Terms and Conditions of UseShareable LinkUse the link below to share a full-text version of this article with your friends and colleagues. Learn more.Copy URL Share a linkShare onFacebookTwitterLinkedInRedditWechat Citing Literature Volume88, Issue6December 2016Pages 334-341 RelatedInformation

Nomenclature for factors of the HLA system, update May 2016.

HLAVolume 88, Issue 3 p. 136-141 Nomenclature update Nomenclature for factors of the HLA system, update May 2016 Compiled by S. G. E. Marsh, Corresponding Author S. G. E. MarshCorrespondence: Professor Steven G. E. Marsh, Anthony Nolan Research Institute, Royal Free Hospital, Pond Street, London NW3 2QG, UK. Tel: +44 20 7284 8321; Fax: +44 20 7284 8331; e-mail: steven.marsh@ucl.ac.uk; URLs: hla.alleles.org; www.anthonynolan.org/hig; www.ebi.ac.uk/ipd/imgt/hlaSearch for more papers by this authorfor the WHO Nomenclature Committee for Factors of the HLA System, for the WHO Nomenclature Committee for Factors of the HLA SystemSearch for more papers by this author Compiled by S. G. E. Marsh, Corresponding Author S. G. E. MarshCorrespondence: Professor Steven G. E. Marsh, Anthony Nolan Research Institute, Royal Free Hospital, Pond Street, London NW3 2QG, UK. Tel: +44 20 7284 8321; Fax: +44 20 7284 8331; e-mail: steven.marsh@ucl.ac.uk; URLs: hla.alleles.org; www.anthonynolan.org/hig; www.ebi.ac.uk/ipd/imgt/hlaSearch for more papers by this authorfor the WHO Nomenclature Committee for Factors of the HLA System, for the WHO Nomenclature Committee for Factors of the HLA SystemSearch for more papers by this author First published: 01 September 2016 https://doi.org/10.1111/tan.12858Read the full textAboutPDF ToolsRequest permissionExport citationAdd to favoritesTrack citation ShareShare Give accessShare full text accessShare full-text accessPlease review our Terms and Conditions of Use and check box below to share full-text version of article.I have read and accept the Wiley Online Library Terms and Conditions of UseShareable LinkUse the link below to share a full-text version of this article with your friends and colleagues. Learn more.Copy URL Share a linkShare onFacebookTwitterLinkedInRedditWechat Volume88, Issue3September 2016Pages 136-141 RelatedInformation

Nomenclature for factors of the HLA system, update April 2016.

HLAVolume 88, Issue 3 p. 131-135 Nomenclature update Nomenclature for factors of the HLA system, update April 2016 Compiled by S. G. E. Marsh, Corresponding Author S. G. E. MarshCorrespondence: Professor Steven G. E. Marsh, Anthony Nolan Research Institute, Royal Free Hospital, Pond Street, London NW3 2QG, UK. Tel: +44 20 7284 8321; Fax: +44 20 7284 8331; e-mail: steven.marsh@ucl.ac.uk; URLs: hla.alleles.org; www.anthonynolan.org/hig; www.ebi.ac.uk/ipd/imgt/hlaSearch for more papers by this authorfor the WHO Nomenclature Committee for Factors of the HLA System, for the WHO Nomenclature Committee for Factors of the HLA SystemSearch for more papers by this author Compiled by S. G. E. Marsh, Corresponding Author S. G. E. MarshCorrespondence: Professor Steven G. E. Marsh, Anthony Nolan Research Institute, Royal Free Hospital, Pond Street, London NW3 2QG, UK. Tel: +44 20 7284 8321; Fax: +44 20 7284 8331; e-mail: steven.marsh@ucl.ac.uk; URLs: hla.alleles.org; www.anthonynolan.org/hig; www.ebi.ac.uk/ipd/imgt/hlaSearch for more papers by this authorfor the WHO Nomenclature Committee for Factors of the HLA System, for the WHO Nomenclature Committee for Factors of the HLA SystemSearch for more papers by this author First published: 01 September 2016 https://doi.org/10.1111/tan.12857Read the full textAboutPDF ToolsRequest permissionExport citationAdd to favoritesTrack citation ShareShare Give accessShare full text accessShare full-text accessPlease review our Terms and Conditions of Use and check box below to share full-text version of article.I have read and accept the Wiley Online Library Terms and Conditions of UseShareable LinkUse the link below to share a full-text version of this article with your friends and colleagues. Learn more.Copy URL Share a linkShare onFacebookTwitterLinkedInRedditWechat Volume88, Issue3September 2016Pages 131-135 RelatedInformation

Nomenclature for factors of the HLA system, update June 2016.

HLAVolume 88, Issue 3 p. 142-151 Nomenclature update Nomenclature for factors of the HLA system, update June 2016 Compiled by S. G. E. Marsh, Corresponding Author S. G. E. MarshCorrespondence: Professor Steven G. E. Marsh, Anthony Nolan Research Institute, Royal Free Hospital, Pond Street, London NW3 2QG, UK. Tel: +44 20 7284 8321; Fax: +44 20 7284 8331; e-mail: steven.marsh@ucl.ac.uk; URLs: hla.alleles.org; www.anthonynolan.org/hig; www.ebi.ac.uk/ipd/imgt/hlaSearch for more papers by this authorfor the WHO Nomenclature Committee for Factors of the HLA System, for the WHO Nomenclature Committee for Factors of the HLA SystemSearch for more papers by this author Compiled by S. G. E. Marsh, Corresponding Author S. G. E. MarshCorrespondence: Professor Steven G. E. Marsh, Anthony Nolan Research Institute, Royal Free Hospital, Pond Street, London NW3 2QG, UK. Tel: +44 20 7284 8321; Fax: +44 20 7284 8331; e-mail: steven.marsh@ucl.ac.uk; URLs: hla.alleles.org; www.anthonynolan.org/hig; www.ebi.ac.uk/ipd/imgt/hlaSearch for more papers by this authorfor the WHO Nomenclature Committee for Factors of the HLA System, for the WHO Nomenclature Committee for Factors of the HLA SystemSearch for more papers by this author First published: 01 September 2016 https://doi.org/10.1111/tan.12859Citations: 1Read the full textAboutPDF ToolsRequest permissionExport citationAdd to favoritesTrack citation ShareShare Give accessShare full text accessShare full-text accessPlease review our Terms and Conditions of Use and check box below to share full-text version of article.I have read and accept the Wiley Online Library Terms and Conditions of UseShareable LinkUse the link below to share a full-text version of this article with your friends and colleagues. Learn more.Copy URL Share a linkShare onFacebookTwitterLinkedInRedditWechat Citing Literature Volume88, Issue3September 2016Pages 142-151 RelatedInformation

Nomenclature for factors of the HLA system, update May 2016.

International Journal of ImmunogeneticsVolume 43, Issue 5 p. 314-319 Nomenclature Nomenclature for factors of the HLA system, update May 2016† Steven G. E. Marsh, Corresponding Author Steven G. E. Marsh Correspondence: Professor Steven GE Marsh, Anthony Nolan Research Institute, Royal Free Hospital, Pond Street, London NW3 2QG, UK. Tel: +44 20 7284-8321; Fax +44 20 7284-8331; E-mail: steven.marsh@ucl.ac.uk URLs: hla.alleles.org, www.anthonynolan.org/hig, www.ebi.ac.uk/ipd/imgt/hlaSearch for more papers by this author Steven G. E. Marsh, Corresponding Author Steven G. E. Marsh Correspondence: Professor Steven GE Marsh, Anthony Nolan Research Institute, Royal Free Hospital, Pond Street, London NW3 2QG, UK. Tel: +44 20 7284-8321; Fax +44 20 7284-8331; E-mail: steven.marsh@ucl.ac.uk URLs: hla.alleles.org, www.anthonynolan.org/hig, www.ebi.ac.uk/ipd/imgt/hlaSearch for more papers by this author First published: 11 August 2016 https://doi.org/10.1111/iji.12285 †Compiled by Steven G. E. Marsh for the WHO Nomenclature Committee for Factors of the HLA System. Read the full textAboutPDF ToolsRequest permissionExport citationAdd to favoritesTrack citation ShareShare Give accessShare full text accessShare full-text accessPlease review our Terms and Conditions of Use and check box below to share full-text version of article.I have read and accept the Wiley Online Library Terms and Conditions of UseShareable LinkUse the link below to share a full-text version of this article with your friends and colleagues. Learn more.Copy URL Share a linkShare onFacebookTwitterLinkedInRedditWechat Volume43, Issue5October 2016Pages 314-319 RelatedInformation

Nomenclature for factors of the HLA system, update June 2016.

International Journal of ImmunogeneticsVolume 43, Issue 5 p. 320-329 Nomenclature Nomenclature for factors of the HLA system, update June 2016 † Steven G. E. Marsh, Corresponding Author Steven G. E. MarshCorrespondence: Professor Steven G. E. Marsh, Anthony Nolan Research Institute, Royal Free Hospital, Pond Street, London NW3 2QG, UK. Tel: +44 20 7284-8321; Fax: +44 20 7284-8331; E-mail: steven.marsh@ucl.ac.uk URLs: hla.alleles.org, www.anthonynolan.org/hig, www.ebi.ac.uk/ipd/imgt/hlaSearch for more papers by this author Steven G. E. Marsh, Corresponding Author Steven G. E. MarshCorrespondence: Professor Steven G. E. Marsh, Anthony Nolan Research Institute, Royal Free Hospital, Pond Street, London NW3 2QG, UK. Tel: +44 20 7284-8321; Fax: +44 20 7284-8331; E-mail: steven.marsh@ucl.ac.uk URLs: hla.alleles.org, www.anthonynolan.org/hig, www.ebi.ac.uk/ipd/imgt/hlaSearch for more papers by this author First published: 10 August 2016 https://doi.org/10.1111/iji.12284 †Compiled by Steven G. E. Marsh for the WHO Nomenclature Committee for Factors of the HLA System. Read the full textAboutPDF ToolsRequest permissionExport citationAdd to favoritesTrack citation ShareShare Give accessShare full text accessShare full-text accessPlease review our Terms and Conditions of Use and check box below to share full-text version of article.I have read and accept the Wiley Online Library Terms and Conditions of UseShareable LinkUse the link below to share a full-text version of this article with your friends and colleagues. Learn more.Copy URL Share a linkShare onFacebookTwitterLinkedInRedditWechat Volume43, Issue5October 2016Pages 320-329 RelatedInformation

GENETIC CHARACTERISTICS OF THE POPULATION LIVING IN THE TERRITORY OF THE REPUBLIC OF BASHKORTOSTAN

Sequence based typing was used to identify human leukocyte antigen (HLA)-A, -B, -C, -DRB1 alleles in 1,064 recruited volunteers in the Republic of Bashkortostan of the Russian Federation for unrelated hematopoietic stem cell registry. During the carried out research two new alleles were identified in the studied population; one was registered in the WHO Nomenclature Committee for Factors of the HLA System, the other one was submitted for registration. In this population 17 HLA-A, 29 – HLA-B, 13 – HLA-C, 13 – HLA-DRB1 groups of alleles were selected. Allele frequencies of more than 10% included HLA-A*02 (29.37%), 24 (12.92%), 01 (11.84%), 03 (11.61%), HLA-B*35 (11.51%), 07 (10.76%), HLA-C*07 (22.56%), 06 (15.51%), 04 (13.06%), 03 (10.43%), 12 (10.24%), HLA-DRB1*07 (17.25%), 15 (12.73%), 13 (11.98%), 01 (11.84%), 04 (11.61%). 711 HLA-A-B-C-DRB1 four-locus haplotypes were determined using the software Arlequin v.3.1. The most frequently observed four-locus haplotypes were A*02-B*13-C*06-DRB1*07, A*03-B*35-C*07-DRB1*15, A*02- B*07-C*07-DRB1*15 with frequencies of 2.89%, 2.18% and 1.93%, respectively. The distribution of alleles and haplotype analysis allowed comparing the populations of the Republic of Bashkortostan with the other Russian populations.

Nomenclature for factors of the HLA system, update November 2015

International Journal of ImmunogeneticsVolume 43, Issue 2 p. 116-119 Nomenclature Nomenclature for factors of the HLA system, update November 2015† S. G. E. Marsh, Corresponding Author S. G. E. Marsh Correspondence: Steven G. E. Marsh, Anthony Nolan Research Institute, Royal Free Hospital, Pond Street, London NW3 2QG, UK. Tel: +44 20 7284 8321; Fax: +44 20 7284 8331; E-mail: steven.marsh@ucl.ac.uk URLs: hla.alleles.org, www.anthonynolan.org/hig, www.ebi.ac.uk/ipd/imgt/hlaSearch for more papers by this author S. G. E. Marsh, Corresponding Author S. G. E. Marsh Correspondence: Steven G. E. Marsh, Anthony Nolan Research Institute, Royal Free Hospital, Pond Street, London NW3 2QG, UK. Tel: +44 20 7284 8321; Fax: +44 20 7284 8331; E-mail: steven.marsh@ucl.ac.uk URLs: hla.alleles.org, www.anthonynolan.org/hig, www.ebi.ac.uk/ipd/imgt/hlaSearch for more papers by this author First published: 12 February 2016 https://doi.org/10.1111/iji.12252 †Compiled by Steven G. E. Marsh for the WHO Nomenclature Committee for Factors of the HLA System. Read the full textAboutPDF ToolsRequest permissionExport citationAdd to favoritesTrack citation ShareShare Give accessShare full text accessShare full-text accessPlease review our Terms and Conditions of Use and check box below to share full-text version of article.I have read and accept the Wiley Online Library Terms and Conditions of UseShareable LinkUse the link below to share a full-text version of this article with your friends and colleagues. Learn more.Copy URL Share a linkShare onFacebookTwitterLinked InRedditWechat Volume43, Issue2April 2016Pages 116-119 RelatedInformation

The IPD-IMGT/HLA Database – New developments in reporting HLA variation

IPD-IMGT/HLA is a constituent of the Immuno Polymorphism Database (IPD), which was developed to provide a centralised system for the study of polymorphism in genes of the immune system. The IPD project works with specialist groups of nomenclature committees who provide and curate individual sections before they are submitted to IPD for online publication. The primary database within the IPD project is the IPD-IMGT/HLA Database, which provides a locus-specific database for the hyper-polymorphic allele sequences of the genes in the HLA system, also known as the human Major Histocompatibility Complex. The IPD-IMGT/HLA Database was first released over 17years ago, building on the work of the WHO Nomenclature Committee for Factors of the HLA system that was initiated in 1968. The IPD-IMGT/HLA Database enhanced this work by providing the HLA community with an online, searchable repository of highly curated HLA sequences. Many of the genes encode proteins of the immune system and are hyper polymorphic, with some genes currently having over 4000 known allelic variants. Through the work of the HLA Informatics Group and in collaboration with the European Bioinformatics Institute we are able to provide public access to this data through the website, http://www.ebi.ac.uk/ipd/imgt/hla.

PCR-SBT Characterization of A New HLA Allele: A*02:548

The human Major Histocompatibility Complex (MHC) lies within the short arm of chromosome 6 and is responsible for the production of Human Leukocyte Antigens (HLA). The HLA genes are the most polymorphic genes in the human genome, encoding over 13000 allelic variants. Our laboratories are involved in HLA tissue typing of patients, their relatives and volunteer donors for the Italian Bone Marrow Register. During HLA-A high resolution typing of our Caucasian bone marrow volunteer donors, we found a sequence largely homologous to A*02:01 with a mutation at position 367 a C instead of a T. This mutation results in a coding change from Tyrosine to Histidine in exon 3 (codon 99 TAT→CAT). This allele was then submitted to the WHO Nomenclature Committee via the IMGT/HLA Database for naming and was assigned the official name A*02:548.

Nomenclature for factors of the HLA system, update August 2015

International Journal of ImmunogeneticsVolume 43, Issue 1 p. 55-59 Nomenclature Nomenclature for factors of the HLA system, update August 2015† S. G. E. Marsh, Corresponding Author S. G. E. Marsh Correspondence: Professor Steven G. E. Marsh, Anthony Nolan Research Institute, Royal Free Hospital, Pond Street, London NW3 2QG, UK. Tel: +44 20 7284 8321; Fax: +44 20 7284 8331; E-mail: steven.marsh@ucl.ac.uk URLs: web: hla.alleles.org, www.anthonynolan.org/hig, www.ebi.ac.uk/ipd/imgt/hlaSearch for more papers by this author S. G. E. Marsh, Corresponding Author S. G. E. Marsh Correspondence: Professor Steven G. E. Marsh, Anthony Nolan Research Institute, Royal Free Hospital, Pond Street, London NW3 2QG, UK. Tel: +44 20 7284 8321; Fax: +44 20 7284 8331; E-mail: steven.marsh@ucl.ac.uk URLs: web: hla.alleles.org, www.anthonynolan.org/hig, www.ebi.ac.uk/ipd/imgt/hlaSearch for more papers by this author First published: 06 November 2015 https://doi.org/10.1111/iji.12238 †Compiled by Steven G. E. Marsh for the WHO Nomenclature Committee for Factors of the HLA System. Read the full textAboutPDF ToolsRequest permissionExport citationAdd to favoritesTrack citation ShareShare Give accessShare full text accessShare full-text accessPlease review our Terms and Conditions of Use and check box below to share full-text version of article.I have read and accept the Wiley Online Library Terms and Conditions of UseShareable LinkUse the link below to share a full-text version of this article with your friends and colleagues. Learn more.Copy URL Share a linkShare onFacebookTwitterLinkedInRedditWechat Volume43, Issue1February 2016Pages 55-59 RelatedInformation

OR46 Using all your tools: Myelodysplastic syndrome (MDS) patient and potential donors HLA-C ambiguity guide us to explore outside of the exons coding the peptide binding domain of HLA-C

Aim An MDS patient has become a candidate for allogeneic hematopoietic stem cell transplantation (HSCT). Samples from patient and five donors were received for HLA typing. HLA-C results were ambiguous in the presence of HLA-C*02:06. We investigated the reason for the variation observed. Methods HLA-Class I high resolution typing was performed by SBT using the group specific strategy (Protrans®S3 HLA-C), allowing most of the alleles to be amplified individually and sequenced as hemizygous. The S3 HLA-C kit sequences the complete exons 2 and 3 of all HLA-C alleles and exon 4 of some. The kit has a locus specific reaction including “all alleles” that we always sequence, since it provides useful data to resolve several relevant ambiguities within exon 4; with the exception of the alleles not having exon 4 data available. This case was unique because some family members were assigned as HLA-C*02:06, 07: AAGAJ (07:01/07:06/07:18/07:343), and others, including the patient, were HLA-C*02:06, 07: ADCTY (07:01/07:06/07:18/07:166/07:343). Upon data review, it was noticed that the multiple NMDP codes referring to the same allele were confusing the clinicians needing to make decisions based on the HLA typing results. We re-sequenced one SBT HLA-C reaction from patient and potential donors to obtain hemizygous data of HLA-C*02:06 exon 4. Results Lack of exon 4 data of HLA-C*02:06 has caused nucleotide position 623 to be ambiguous since only the HLA-C*07:01+ alleles had exon 4 data available. Position 623 was heterozygous on “all alleles” sequencing data of exon 4. We submitted the re-sequenced exon 4 data to IMGT/HLA for review. The submission, HWS 10025170, was confirmed by the WHO Nomenclature Committee for Factors of the HLA System on 02/28/2015. Upon having HLA-C*02:06 exon 4 sequencing data confirmed, we edited the HLA typing reports, the clinicians acknowledged our effort to reduce ambiguities, facilitating their donor selection process; and we made a contribution to the HLA community making exon 4 data of HLA-C*02:06 available at the IMGT/HLA. Conclusions Ambiguities, such as this one, caused by incomplete data of HLA alleles may be prevented when all HLA alleles have complete sequences available, until then, we will keep generating the best resolution results possible using wisely the methods and tools we have available.

Identification and sequencing of novel alleles: Utility of next-generation sequencing methods

Aim Sanger sequencing-based typing (SBT) requires multiple steps to sequence novel HLA alleles, as allele-specific (AS) primers are needed to separate novel from other encoded alleles. Next-generation sequencing (NGS) includes phase information, and has the potential to sequence novel alleles without AS primers. Here we compare the process of novel allele identification and sequencing using SBT and NGS assays. Methods Novel alleles were identified in peripheral blood during routine clinical testing using Atria SBT kits (Abbot Molecular). Germline encoding was verified by typing buccal samples. For Sanger sequencing of novel alleles, AS amplification primers were designed to take advantage of nucleotide polymorphisms between encoded alleles, and patients with homozygous loci were used to verify primer specificity. Amplified products were Sanger sequenced using custom or commercially-available primers. For NGS sequencing, the Holotype X4 (Omixon) kit was used in its default configuration. Results Four novel, germline-encoded HLA alleles were identified in three patients. Novel HLA-A and B alleles were sequenced using AS amplification primers and Sanger sequencing. A novel DQB1 allele previously identified but not resolved by SBT was sequenced using the NGS assay. A novel DQB1 allele not identified by SBT, as the polymorphism was outside the covered region, was identified and sequenced by NGS. The names HLA-A∗66:22, B∗07:238, DQB1∗03:180, and DQB1∗06:01:15 have been officially assigned by the WHO Nomenclature Committee. Conclusions While SBT assays used in the clinical setting are able to identify novel alleles, subsequent sequencing is a cumbersome and time-consuming process. Furthermore, SBT assays may miss novel polymorphisms outside of the exons covered by the assay. NGS systems, on the other hand, can identify and sequence novel alleles over a larger genomic region as part of the normal clinical workflow. However, we experienced issues with the Omixon NGS kit, including the inability to sequence buccal cell DNA, and difficulties amplifying the DQB1 locus, which could have impacted clinical workflow had NGS been the primary method of testing. As the emerging technology of NGS is introduced to complement established SBT assays, it is important to evaluate the strengths and weaknesses of each.

Nomenclature for factors of the HLA system, update June 2015.

Tissue AntigensVolume 86, Issue 3 p. 234-237 Nomenclature update Nomenclature for factors of the HLA system, update June 2015 Compiled by Steven G. E. Marsh, Corresponding Author Steven G. E. Marsh for the WHO Nomenclature Committee for Factors of the HLA SystemCorrespondence: Professor Steven G. E. Marsh, Anthony Nolan Research Institute, Royal Free Hospital, Pond Street, London NW3 2QG, UK. Tel: +44 20 7284 8321; Fax: +44 20 7284 8331; e-mail: steven.marsh@ucl.ac.uk URLs: hla.alleles.org; www.anthonynolan.org/hig; www.ebi.ac.uk/ipd/imgt/hlaSearch for more papers by this author Compiled by Steven G. E. Marsh, Corresponding Author Steven G. E. Marsh for the WHO Nomenclature Committee for Factors of the HLA SystemCorrespondence: Professor Steven G. E. Marsh, Anthony Nolan Research Institute, Royal Free Hospital, Pond Street, London NW3 2QG, UK. Tel: +44 20 7284 8321; Fax: +44 20 7284 8331; e-mail: steven.marsh@ucl.ac.uk URLs: hla.alleles.org; www.anthonynolan.org/hig; www.ebi.ac.uk/ipd/imgt/hlaSearch for more papers by this author First published: 12 August 2015 https://doi.org/10.1111/tan.12633Citations: 2Read the full textAboutPDF ToolsRequest permissionExport citationAdd to favoritesTrack citation ShareShare Give accessShare full text accessShare full-text accessPlease review our Terms and Conditions of Use and check box below to share full-text version of article.I have read and accept the Wiley Online Library Terms and Conditions of UseShareable LinkUse the link below to share a full-text version of this article with your friends and colleagues. Learn more.Copy URL Share a linkShare onFacebookTwitterLinked InRedditWechat Citing Literature Volume86, Issue3September 2015Pages 234-237 RelatedInformation