Characterization of the novel HLA-A*32:177 allele by sequencing-based typing.

HLA-A*32:177 differs from HLA-A*32:01:01:01 by one nucleotide substitution in codon -16 in exon 1.

Characterization of the novel HLA-DPA1*02:122 allele by sequencing-based typing.

HLA-DPA1*02:122 differs from HLA-DPA1*02:01:01:02 by one nucleotide substitution in codon 78 in exon 2.

Characterization of the novel HLA-B*14:122 allele by sequencing-based typing.

HLA-B*14:122 differs from HLA-B*14:02:01:01 by one nucleotide substitution in codon 102 in exon 3.

Characterization of the novel HLA-B*39:06:09 allele by sequencing-based typing.

HLA-B*39:06:09 differs from HLA-B*39:06:02:01 by one nucleotide substitution in codon 135 in exon 3.

Characterization of the novel HLA-DPA1*01:03:51 allele by sequencing-based typing.

HLA-DPA1*01:03:51 differs from HLA-DPA1*01:03:01:01 by one nucleotide substitution in codon 146 in exon 3.

Characterization of the novel HLA-B*08:312 allele by sequencing-based typing.

HLA-B*08:312 differs from HLA-B*08:01:01:01 by one nucleotide substitution in codon 324 in exon 6.

Phenotypic Profiles Among 72 Caucasian and Afro-Caribbean Patients with Antisynthetase Syndrome Involving Anti-PL7 or Anti-PL12 Autoantibodies.

OBJECTIVES: Antisynthetase syndrome (ASyS) is a rare autoimmune disease. We aimed to determine clinical, biological, radiological, and evolutive profiles of ASyS patients with anti-PL7 or anti-PL12 autoantibodies. METHODS: We performed a retrospective study that included adults with overt positivity for anti-PL7/anti-PL12 autoantibodies and at least one Connors' criterion. RESULTS: Among 72 patients, 69% were women, 29 had anti-PL7 and 43 anti-PL12 autoantibodies, median age was 60.3 years, and median follow-up period was 52.2 months. At diagnosis, 76% of patients had interstitial lung disease, 61% had arthritis, 39% myositis, 25% Raynaud's phenomenon, 18% mechanic's hands, and 17% had fever. The most frequent pattern on initial chest computed tomography was non-specific interstitial pneumonia and 67% had fibrosis at last follow-up. During follow-up, 12 patients had pericardial effusion (18%), 19 had pulmonary hypertension (29%), 9 (12.5%) had neoplasms, and 14 (19%) died. Sixty-seven patients (93%) received at least one steroid or immunosuppressive drug. Patients with anti-PL12 autoantibodies were younger (p=0.01) and more frequently exhibited anti-SSA autoantibodies (p=0.01); patients with anti-PL7 autoantibodies had more severe weakness and higher maximum creatine kinase levels (p=0.03 and 0.04, respectively). Initial severe dyspnoea was more common in patients from the West Indies (p=0.009), with lower predicted values of forced vital capacity, forced expiratory volume in 1s, and total lung capacity (p=0.01, p=0.02, p=0.01, respectively) contributing to a more severe 'respiratory' initial presentation. CONCLUSIONS: The high mortality and significant numbers of cardiovascular events, neoplasms and lung fibrosis in anti-PL7/12 patients justify close monitoring and question addition of antifibrotic drugs.

Characterization of the novel HLA-DPB1*1463:01N allele by sequencing-based typing.

HLA-DPB1*1463:01N differs from HLA-DPB1*02:01:02:04 by one nucleotide substitution in codon 128 in exon 3.

Characterization of the novel HLA-B*51:370 allele by sequencing-based typing.

HLA-B*51:370 differs from HLA-B*51:01:01:04 by one nucleotide substitution in codon 276 in exon 5.

Characterization of the novel HLA-DQA1*05:05:14 allele by sequencing-based typing.

HLA-DQA1*05:05:14 differs from HLA-DQA1*05:05:01:04 by one nucleotide substitution in codon -8 in exon 1.

Characterization of the novel HLA-DPB1*1348:01 allele by sequencing-based typing.

HLA-DPB1*1348:01 differs from HLA-DPB1*14:01:01:01 by one nucleotide substitution in codon 147 in exon 3.

Characterization of the novel HLA-DQB1*05:01:47 allele by sequencing-based typing.

HLA-DQB1*05:01:47 differs from HLA-DQB1*05:01:01:03 by one nucleotide substitution in codon 144 in exon 3.

Characterization of the novel HLA-A*01:419 allele by sequencing-based typing.

HLA-A*01:419 differs from HLA-A*01:01:01:03 by one nucleotide substitution in codon 200 in exon 4.

Characterization of the novel HLA-DQB1*02:200 allele by sequencing-based typing.

HLA-DQB1*02:200 differs from HLA-DQB1*02:02:01:02 by one nucleotide substitution in codon 148 in exon 3.

Characterization of the novel HLA-DPB1*02:01:63 allele by sequencing-based typing.

HLA-DPB1*02:01:63 differs from HLA-DPB1*02:01:02:04 by one nucleotide substitution in codon 144 in exon 3.

Characterization of the novel HLA-DQA1*05:53 allele by sequencing-based typing.

HLA-DQA1*05:53 differs from HLA-DQA1*05:05:01:01 by one nucleotide substitution in codon 221 in exon 4.

Characterization of the novel HLA-C*12:354 allele by sequencing-based typing.

HLA-C*12:354 differs from HLA-C*12:03:01:01 by one nucleotide substitution in codon 240 in exon 4.

Characterization of the novel HLA-A*24:564 allele by sequencing-based typing.

HLA-A*24:564 differs from HLA-A*24:02:01:01 by one nucleotide substitution in codon 240 in exon 4.

Characterization of the novel HLA-B*44:544N allele by sequencing-based typing.

HLA-B*44:544N differs from HLA-B*44:02:01:01 by one nucleotide substitution in codon 147 in exon 3.

Identification of the novel HLA-DQB1*06:386 allele by next-generation sequencing.

HLA-DQB1*06:386 differs from DQB1*06:46 by one nucleotide substitution in Codon 130 in Exon 3.