Exploration of potential immune mechanisms in cervical dystonia.

Background: Although there are many possible causes for cervical dystonia (CD), a specific etiology cannot be identified in most cases. Prior studies have suggested a relationship between autoimmune disease and some cases of CD, pointing to possible immunological mechanisms.

Objective: The goal was to explore the potential role of multiple different immunological mechanisms in CD.

Identification of the novel HLA-B*53:69 allele by sequencing-based typing.

The HLA-B*53:69 allele differs from HLA-B*53:01:01:01 by two nucleotide changes in exon 3.

Identification and characterization of 122 novel HLA alleles in bone marrow donors recruited to the Ezer Mizion Bone Marrow Donor Registry.

Between January 2018 and June 2021, the Ezer Mizion recruited 223,960 donors. All donors were typed for their HLA class I and II alleles at high resolution by Next Generation Sequencing techniques. Comparison between the sequences obtained from these donors and those in the IPD-IMGT/HLA Database, revealed 122 Novel HLA alleles that were found in 133 donors.

Discovery of a novel HLA-C*04 null allele, HLA-C*04:279N, in a Singaporean individual.

A nucleotide mutation in codon 75 of HLA-C*04:01:01:01 results in a novel allele HLA-C*04:279N.

The MHC class I MICA gene is a histocompatibility antigen in kidney transplantation.

The identity of histocompatibility loci, besides human leukocyte antigen (HLA), remains elusive. The major histocompatibility complex (MHC) class I MICA gene is a candidate histocompatibility locus. Here, we investigate its role in a French multicenter cohort of 1,356 kidney transplants.

Discovery of the novel HLA-C*06:195 allele in a Singaporean unrelated hematopoietic stem cell donor.

One nucleotide substitution in Codon 58 of HLA-C*06:02:01:01 results in a novel allele, HLA-C*06:195.

HLA-DPB1*526:01 detected in two Singaporean Indian individuals.

One nucleotide substitution in codon 84 of HLA-DPB1*02:01:02:01 results in a novel allele, HLA-DPB1*526:01.

Discovery of HLA-DPB1*454:01 in a Singaporean Malay individual.

One nucleotide substitution in codon 85 of HLA-DPB1*04:01:01:01 results in a novel allele, HLA-DPB1*454:01.

Novel HLA-DPB1*10:01:05 allele, identified by next-generation sequencing in a Saudi individual.

HLA-DPB1*10:01:05 differs from HLA-DPB1*10:01:01:01 by a single synonymous nucleotide substitution in exon 2, 38 G>A.

HLA-DQB1*05:116, an HLA-DQB1*05 variant, detected in a Singaporean Chinese individual.

One nucleotide substitution in codon 87 of HLA-DQB1*05:02:01:01 results in a novel allele, HLA-DQB1*05:116.

HLA-DQB1*06:132, an HLA-DQB1*06 variant, discovered in a Singaporean Malay bone marrow donor.

One nucleotide substitution in codon 38 of HLA-DQB1*06:01:01:01 results in a novel allele, HLA-DQB1*06:132.

HLA-DQB1*05:66:01, a novel variant of HLA-DQB1*05, identified in a Singaporean Malay bone marrow donor.

Nucleotide substitutions in codon 38 of HLA-DQB1*05:03:01:01 result in a novel allele, HLA-DQB1*05:66:01.

HLA-B*38:64, an HLA-B*38 variant, detected in a Singaporean Malay unrelated hematopoietic stem cell donor.

One nucleotide substitution in codon 89 of HLA-B*38:02:01:01 results in a novel allele, HLA-B*38:64.

Identification of a novel HLA-A*01 variant, HLA-A*01:211, in a Singaporean Malay bone marrow donor.

One nucleotide substitution in codon 73 of HLA-A*01:01:01:01 results in a novel allele, HLA-A*01:211.

The novel HLA-A*68:227 allele, identified by Next-Generation Sequencing in a Saudi individual.

HLA-A*68:227 differs from HLA-A*68:84 by two single nucleotide substitutions in codon 10 and 90.

HLA-B*15:349:02, a novel variant of HLA-B*15, discovered in a Singaporean Malay bone marrow donor.

One nucleotide substitution in codon 112 of HLA-B*15:349:01 results in a novel allele, HLA-B*15:349:02.

Discovery of HLA-B*35:368, a novel HLA-B*35 variant, in a Singaporean Malay hematopoietic stem cell donor.

DNA substitutions from codons 69 to 71 of HLA-B*35:05:01:01 result in a novel allele, HLA-B*35:368.

Identification of the novel allele, HLA-DPB1*906:01, in a Caucasian individual by next-generation sequencing.

Novel allele HLA-DPB1*906:01 is possibly a recombinant between DPB1*04:02:01:01 and DPB1*06:01:01:01.

Common, intermediate and well-documented HLA alleles in world populations: CIWD version 3.0.0.

A catalog of common, intermediate and well-documented (CIWD) HLA-A, -B, -C, -DRB1, -DRB3, -DRB4, -DRB5, -DQB1 and -DPB1 alleles has been compiled from over 8 million individuals using data from 20 unrelated hematopoietic stem cell volunteer donor registries. Individuals are divided into seven geographic/ancestral/ethnic groups and data are summarized for each group and for the total population. P (two-field) and G group assignments are divided into one of four frequency categories: common (≥1 in 10 000), intermediate (≥1 in 100 000), well-documented (≥5 occurrences) or not-CIWD.

Identification of 33 novel HLA alleles in Arab potential bone marrow donors.

Between 2008 and April 2018, we recruited more than 37 000 potential Arab donors to the Hadassah Bone Marrow Donor Registry, all of whom were typed for high resolution HLA-A, -B, and -DRB1. In addition, more than 22% of them were also typed for their HLA-C and -DQB1 alleles. A comparison of the sequences obtained from these donors with the IPD-IMGT/HLA Database showed 33 novel alleles from five loci (HLA-A, -B, -C, -DR, -DQ).

HLA-DQB1*05:115, an HLA-DQB1*05:01:01:01 variant, identified in a Singaporean Indian individual.

One nucleotide substitution in codon 46 of HLA-DQB1*05:01:01:01 results in a new allele, HLA-DQB1*05:115.

HLA*LA-HLA typing from linearly projected graph alignments.

Summary: HLA*LA implements a new graph alignment model for human leukocyte antigen (HLA) type inference, based on the projection of linear alignments onto a variation graph. It enables accurate HLA type inference from whole-genome (99% accuracy) and whole-exome (93% accuracy) Illumina data; from long-read Oxford Nanopore and Pacific Biosciences data (98% accuracy for whole-genome and targeted data) and from genome assemblies. Computational requirements for a typical sample vary between 0.

Identification of a novel allele, HLA-DPB1*417:01:02, in an African American deceased donor.

HLA-DPB1*417:01:02 differs from HLA-DPB1*417:01:01 by a synonymous nucleotide substitution at codon 43.

HLA-C*07:465, a novel HLA-C*07 variant, detected in a Singaporean Chinese individual.

One nucleotide replacement in codon 50 of HLA-C*07:02:01:01 results in a novel allele, HLA-C*07:465.