RESUMO
The identification of a novel HLA-B*35:279 allele in a Czech patient is described. This allele is identical to the B*35:03:01 variant except the G/A nucleotide exchange at position 652 of the HLA-B gene that corresponds to the amino acid substitution from valine to isoleucine in alpha 3 domain of the HLA-B antigen.
Assuntos
Alelos , Antígenos HLA-B/genética , Antígenos HLA-B/imunologia , Substituição de Aminoácidos , Sequência de Bases , República Tcheca , Antígenos HLA-B/isolamento & purificação , Teste de Histocompatibilidade , HumanosRESUMO
A somatic mutation of the human leukocyte antigen (HLA)-A gene revealed in tumour cells of acute myelogenous leukemia (AML) is described. A patient with AML and her siblings were routinely typed for HLA in order to find a suitable donor for haematopoietic stem cell transplantation. Sequencing-based typing of the initial patient's sample characterized by high proportion of blasts revealed unknown G/A exchange at position 781 of the HLA-A gene (exon 4) associated with HLA-A*02:01 allele. Importantly, this G781A variant was completely absent in the patient's remission sample obtained after the clearance of blasts. Our results are a reminder that HLA mutations in tumour cells may interfere with routine HLA typing and should always be considered, namely, in patients with haematological malignancies.
Assuntos
Antígeno HLA-A2/genética , Leucemia Mieloide Aguda/genética , Mutação de Sentido Incorreto , Células-Tronco Neoplásicas/química , Mutação Puntual , Adulto , Alelos , Substituição de Aminoácidos , Sequência de Bases , Éxons/genética , Feminino , Mutação em Linhagem Germinativa , Transplante de Células-Tronco Hematopoéticas , Teste de Histocompatibilidade , Humanos , Leucemia Mieloide Aguda/patologia , Leucemia Mieloide Aguda/terapia , Dados de Sequência Molecular , Indução de Remissão , IrmãosRESUMO
We describe the identification of a novel HLA-DRB1 allele, DRB1*13:116, in a member of the Czech National Marrow Donor Registry. The novel allele differs from the known DRB1*13:17 variant by a nucleotide exchange at position 227 (T/A) of the coding HLA-DRB1 sequence, which causes an amino acid substitution (Phe47Tyr) in the HLA-DR beta 1 chain.
Assuntos
Cadeias HLA-DRB1/genética , Adulto , Alelos , Substituição de Aminoácidos , Sequência de Bases , Medula Óssea/imunologia , Medula Óssea/fisiologia , Feminino , Humanos , Dados de Sequência Molecular , Sistema de Registros , Doadores de TecidosRESUMO
Interleukin-6 (IL-6) is an important pro-inflammatory mediator implicated in immune-mediated complications of allogeneic haematopoietic stem cell transplantation (aHSCT). In accord with previous reports, this preliminary study on 56 donor-recipient pairs revealed IL-6-174 single nucleotide polymorphisms as a risk factor for the development of acute graft-versus-host disease and decreased survival after aHSCT.