Identification of the novel HLA-B*51:367 allele in a cord blood donor by next-generation sequencing.

The new HLA-B*51:367 differs from B*51:01:01:64 by four substitutions in exon 1.

Characterization of the novel HLA-DPA1 allele, HLA-DPA1*01:86.

HLA-DPA1*01:86 differs from DPA1*01:03:01:05 by a single nucleotide change in codon 94 (AAG>GAG).

Use of DPB1 T-cell epitope algorithm among italian transplant centers: A survey on behalf of Associazione Italiana di Immunogenetica e Biologia dei Trapianti.

The HLA-DPB1 locus has been demonstrated to have a significant role on patients' outcome after allogeneic HSCT, and the so-called T-cell epitope (TCE) algorithm has been incorporated in international guidelines for the selection of unrelated donors. The purpose of the present study is to measure, through a national survey conducted on behalf of the Associazione Italiana di Immunogenetica e Biologia dei Trapianti (AIBT), the extent of awareness and use of HLA-DPB1 TCE-based algorithms during the donor search. 89% of the HLA laboratories answered to a short questionnaire and the results showed a progressive increase of the laboratories typing DPB1 in patients and their potential donors during the search (from 44% to 79% during the 2010-2019 period) as well as the application of a TCE-based algorithm for the donor choice whenever possible (from 24% to 65% during the same period). The DP-permissiveness status is detailed in the official HLA typing report by 12%, 32% and 50% of laboratories in 2010, 2015 and 2019, respectively. The present data indicate an encouraging raise in the awareness of the HLA-DPB1 role in unrelated donor selection; noteworthy, mentioning the TCE-based permissiveness status in the HLA typing report of each potential unrelated donor represents a notable mean to raise awareness among transplant physicians and to support them in their task of choosing the best donor. Nonetheless, despite the compelling evidence of the predictive ability of TCE-based algorithms, further efforts are still needed to extend its application to all transplant centers in Italy.

Identification of a new HLA-A allele: A*31:187.

HLA-A*31:187 differs from A*31:01:02:04 by a single nucleotide change in codon 80 (ACC > AAC).

Identification of a single nucleotide deletion in the novel HLA-DQB1*06:379N allele, detected by Polymerase Chain Reaction-Sequence Based Typing but not by Next Generation Sequencing.

In this report we describe the characterization of a novel null HLA-DQB1 allele, detected by polymerase chain reaction-sequence-based typing but not by next-generation sequencing (NGS). The new allele, HLA-DQB1*06:379N, was discovered in an Italian patient with acute myeloid leukemia and also in one of her healthy siblings. The new allele is largely homologous to DQB1*06:02:01:01 with a T deletion in exon 2, in codon 11, which causes a frameshift and the formation of an unusual and premature TGA STOP in codon 27. This case report underlines the importance of not removing Sanger method sequencing from routine use for high-resolution HLA typing, but to maintain it together with NGS technology.

The novel HLA-A*68 variant, HLA-A*68:02:16, identified by next-generation sequencing.

HLA-A*68:02:16 differs from A*68:02:01:01 by a single synonymous nucleotide change in codon 160 (CTG>CTA).

Characterization of the novel HLA-DPA1 allele, HLA-DPA1*01:27.

HLA-DPA1*01:27 differs from DPA1*01:03:01:01 by a single non-synonymous nucleotide change in codon 15 (ACG > ATG).