RESUMO
HLA-DQA1*01:02:24 differs from HLA-DQA1*01:02:01:03 by one nucleotide substitution in codon 167 in exon 3.
Assuntos
Alelos , Sequência de Bases , Éxons , Cadeias alfa de HLA-DQ , Teste de Histocompatibilidade , Análise de Sequência de DNA , Humanos , Cadeias alfa de HLA-DQ/genética , Análise de Sequência de DNA/métodos , Códon , Alinhamento de SequênciaRESUMO
HLA-DPA1*01:12:03 differs from HLA-DPA1*01:12:01 by one nucleotide substitution in codon 204 in exon 4.
Assuntos
Alelos , Sequência de Bases , Éxons , Cadeias alfa de HLA-DP , Teste de Histocompatibilidade , Análise de Sequência de DNA , Humanos , Cadeias alfa de HLA-DP/genética , Cadeias alfa de HLA-DP/imunologia , Teste de Histocompatibilidade/métodos , Análise de Sequência de DNA/métodos , Códon , Alinhamento de SequênciaRESUMO
HLA-DRB1*04:379N differs from HLA-DRB1*04:01:01:01 by one nucleotide substitution in codon 4 in exon 1.
Assuntos
Alelos , Sequência de Bases , Éxons , Cadeias HLA-DRB1 , Teste de Histocompatibilidade , Análise de Sequência de DNA , Humanos , Cadeias HLA-DRB1/genética , Teste de Histocompatibilidade/métodos , Análise de Sequência de DNA/métodos , Códon , Alinhamento de SequênciaRESUMO
HLA-A*32:177 differs from HLA-A*32:01:01:01 by one nucleotide substitution in codon -16 in exon 1.
Assuntos
Antígenos HLA-A , Nucleotídeos , Humanos , Alelos , Éxons/genética , Análise de Sequência de DNA , Antígenos HLA-A/genéticaRESUMO
HLA-DPA1*02:122 differs from HLA-DPA1*02:01:01:02 by one nucleotide substitution in codon 78 in exon 2.
Assuntos
Cadeias alfa de HLA-DP , Humanos , Alelos , Alinhamento de Sequência , Teste de Histocompatibilidade , Cadeias alfa de HLA-DP/genética , Análise de Sequência de DNARESUMO
HLA-B*14:122 differs from HLA-B*14:02:01:01 by one nucleotide substitution in codon 102 in exon 3.
Assuntos
Genes MHC Classe I , Antígenos HLA-B , Humanos , Alelos , Teste de Histocompatibilidade , Códon , Antígenos HLA-B/genética , Análise de Sequência de DNARESUMO
HLA-B*39:06:09 differs from HLA-B*39:06:02:01 by one nucleotide substitution in codon 135 in exon 3.
Assuntos
Genes MHC Classe I , Antígenos HLA-B , Humanos , Alelos , Teste de Histocompatibilidade , Códon , Antígenos HLA-B/genética , Análise de Sequência de DNARESUMO
HLA-DPA1*01:03:51 differs from HLA-DPA1*01:03:01:01 by one nucleotide substitution in codon 146 in exon 3.
Assuntos
Cadeias alfa de HLA-DP , Humanos , Alelos , Alinhamento de Sequência , Teste de Histocompatibilidade , Cadeias alfa de HLA-DP/genéticaRESUMO
HLA-B*08:312 differs from HLA-B*08:01:01:01 by one nucleotide substitution in codon 324 in exon 6.
Assuntos
Antígenos HLA-B , Humanos , Alelos , Teste de Histocompatibilidade , Códon , Análise de Sequência de DNARESUMO
HLA-DPB1*1463:01N differs from HLA-DPB1*02:01:02:04 by one nucleotide substitution in codon 128 in exon 3.
Assuntos
Sequência de Bases , Humanos , Alelos , Cadeias beta de HLA-DP/genética , Códon , Análise de Sequência de DNARESUMO
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.
Assuntos
Autoanticorpos , Miosite , Adulto , Humanos , Feminino , Pessoa de Meia-Idade , Masculino , Estudos Retrospectivos , Miosite/diagnóstico , Região do CaribeRESUMO
HLA-B*51:370 differs from HLA-B*51:01:01:04 by one nucleotide substitution in codon 276 in exon 5.
Assuntos
Antígenos HLA-B , Humanos , Alelos , Teste de Histocompatibilidade , Códon , Antígenos HLA-B/genética , Análise de Sequência de DNARESUMO
HLA-DPB1*1348:01 differs from HLA-DPB1*14:01:01:01 by one nucleotide substitution in codon 147 in exon 3.
Assuntos
Sequência de Bases , Humanos , Alelos , Cadeias beta de HLA-DP/genética , Códon , Análise de Sequência de DNARESUMO
HLA-DQA1*05:05:14 differs from HLA-DQA1*05:05:01:04 by one nucleotide substitution in codon -8 in exon 1.
Assuntos
Alelos , Humanos , Cadeias alfa de HLA-DQ/genética , Análise de Sequência de DNA , CódonRESUMO
HLA-DQB1*05:01:47 differs from HLA-DQB1*05:01:01:03 by one nucleotide substitution in codon 144 in exon 3.
Assuntos
Alelos , Cadeias beta de HLA-DQ , Humanos , Códon , Cadeias beta de HLA-DQ/genética , Análise de Sequência de DNARESUMO
HLA-A*01:419 differs from HLA-A*01:01:01:03 by one nucleotide substitution in codon 200 in exon 4.
Assuntos
Antígenos HLA-A , Humanos , Alelos , Teste de Histocompatibilidade , Análise de Sequência de DNA , Éxons/genética , Antígenos HLA-A/genéticaRESUMO
HLA-DQA1*05:53 differs from HLA-DQA1*05:05:01:01 by one nucleotide substitution in codon 221 in exon 4.
Assuntos
Alelos , Éxons/genética , Cadeias alfa de HLA-DQ/genética , Humanos , Análise de Sequência de DNARESUMO
HLA-DPB1*02:01:63 differs from HLA-DPB1*02:01:02:04 by one nucleotide substitution in codon 144 in exon 3.
Assuntos
Alelos , Sequência de Bases , Cadeias beta de HLA-DP/genética , Humanos , Análise de Sequência de DNARESUMO
HLA-DQB1*02:200 differs from HLA-DQB1*02:02:01:02 by one nucleotide substitution in codon 148 in exon 3.
Assuntos
Alelos , Cadeias beta de HLA-DQ/genética , Teste de Histocompatibilidade , Humanos , Análise de Sequência de DNARESUMO
HLA-C*12:354 differs from HLA-C*12:03:01:01 by one nucleotide substitution in codon 240 in exon 4.