Characterisation of the novel HLA-DPA1*01:12:03 allele by sequencing-based typing.

HLA-DPA1*01:12:03 differs from HLA-DPA1*01:12:01 by one nucleotide substitution in codon 204 in exon 4.

Identification of the novel HLA-DPA1*02:110:02 allele by next-generation sequencing.

The novel HLA-DPA1*02:110:02 allele differs from HLA-DPA1*02:01:01:06 by one nucleotide substitution in exon 4.

Characterization of the novel HLA-DRB3*02:192 allele by sequencing-based typing.

HLA-DRB3*02:192 differs from DRB3*02:02:01:02 by one nucleotide substitution in codon 204 in exon 4.

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-DPA1*01:03:40 allele by sequencing-based typing.

HLA-DPA1*01:03:40 differs from HLA-DPA1*01:03:01:02 by one nucleotide substitution in codon 60 in exon 2.

A new HLA-B allele, HLA-B*07:422.

The novel allele HLA-B*07:422 differs from HLA-B*07:02:01:01 by one nucleotide substitution in exon 4.

Characterization of the novel HLA-DQA1*01:02:11 allele by sequencing-based typing.

HLA-DQA1*01:02:11 differs from HLA-DQA1*01:02:01:10 by one nucleotide substitution in codon 201 in exon 4.

Characterization of the novel HLA-DQA1*01:58 allele by sequencing-based typing.

HLA-DQA1*01:58 differs from HLA-DQA1*01:02:01:06 by one nucleotide substitution in codon 46 in exon 2.

A new HLA-B allele, HLA-B*35:481.

The novel allele HLA-B*35:481 differs from HLA-B*35:05:01 by two nucleotide substitution in exon 3.

Characterization of the novel HLA-DQA1*03:01:06 allele by sequencing-based typing.

HLA-DQA1*03:01:06 differs from HLA-DQA1*03:01:01:01 by one nucleotide substitution in codon 9 in exon 2.

A new HLA-DQA1 allele, HLA-DQA1*01:26.

The novel allele HLA-DQA1*01:26 differs from HLA-DQA1*01:01:01:01 by one nucleotide substitution in exon 2.

Characterization of the novel HLA-DRB3*02:02:23 allele by sequencing-based typing.

HLA-DRB3*02:02:23 differs from HLA-DRB3*02:02:01:02 by one nucleotide substitution in codon 218 in exon 4.

Characterization of the novel HLA-DRB3*02:96 allele by sequencing-based typing.

HLA-DRB3*02:96 differs from HLA-DRB3*02:02:01:01 by one nucleotide substitution in codon 189 in exon 4.

Characterization of the novel HLA-DRB3*02:02:17 allele by sequencing-based typing.

HLA-DRB3*02:02:17 differs from HLA-DRB3*02:02:01:01 by one nucleotide substitution in codon 179 in exon 3.

Characterization of the novel HLA-C*07:708 allele by sequencing-based typing.

HLA-C*07:708 differs from HLA-C*07:01:01:01 by one nucleotide substitution at codon 258 in exon 4.

The novel HLA-DRB3*02:02:11 allele identified in an Italian individual.

HLA-DRB3*02:02:11 differs from HLA-DRB3*02:02:01:01 by a single synonymous substitution in exon 3'.

Mixed chimerism evolution is associated with T regulatory type 1 (Tr1) cells in a β-thalassemic patient after haploidentical haematopoietic stem cell transplantation.

In a cohort of β-Thalassemia (β-Thal) transplanted with haploidentical-HSCT we identified one transplanted patient characterized by persistent mixed chimerism (PMC) for several months after HSCT. In this unique β-Thal patient we assessed the donor engraftment overtime after transplantation, the potential loss of the non-shared HLA haplotype, and the presence of CD49b(+)LAG-3(+) T regulatory type 1 (Tr1) cells, previously demonstrated to be associated with PMC after HLA-related HSCT for β-Thal. The majority of the patient's erythrocytes were of donor origin, whereas T cells were initially mostly derived from the recipient, no HLA loss, but an increased frequency of circulating Tr1 cells were observed.

Split chimerism between nucleated and red blood cells after bone marrow transplantation for haemoglobinopathies.

Previous studies have shown that a stable presence of both donor and recipient haematopoietic derived cells after allogeneic haematopoietic stem cell transplantation (HSCT) occurs in approximately ten percent of the patients affected by β-Thalassemia. Once achieved this condition, defined as persistent mixed chimerism (PMC), the patients do not require additional red blood cells (RBCs) support and, regardless of the presence in some cases of an extremely low percentage of donor-derived nucleated cells, they are clinically cured by an incomplete, but functional graft. Most of the published papers have, however, investigated the impact of donor engraftment in the nucleated cells rather than in the mature erythrocytes.

Quantitatively different red cell/nucleated cell chimerism in patients with long-term, persistent hematopoietic mixed chimerism after bone marrow transplantation for thalassemia major or sickle cell disease.

Background: Persistent mixed chimerism represents a state in which recipient and donor cells stably co-exist after hematopoietic stem cell transplantation. However, since in most of the studies reported in literature the engraftment state was observed in the nucleated cells, in this study we determined the donor origin of the mature erythrocytes of patients with persistent mixed chimerism after transplantation for hemoglobinopathies. Results were compared with the engraftment state observed in singly picked out burst-forming unit - erythroid colonies and in the nucleated cells collected from the peripheral blood and from the bone marrow.

Type 1 regulatory T cells are associated with persistent split erythroid/lymphoid chimerism after allogeneic hematopoietic stem cell transplantation for thalassemia.

Background: Thalassemia major can be cured with allogeneic hematopoietic stem cell transplantation. Persistent mixed chimerism develops in around 10% of transplanted thalassemic patients, but the biological mechanisms underlying this phenomenon are poorly understood.

Design And Methods: The presence of interleukin-10-producing T cells in the peripheral blood of eight patients with persistent mixed chimerism and five with full donor chimerism was investigated.

Relationship between mixed chimerism and rejection after bone marrow transplantation in thalassaemia.

Background: Thalassaemia is a genetic disease that requires a hypertransfusion regimen to treat the anaemia caused by enhanced red blood cell destruction. The only radical cure for thalassaemia is to correct the genetic defect by bone marrow transplantation from an HLA-identical donor capable of producing and maintaining a normal haemoglobin level in the recipient. Complete donor haematopoiesis is not essential for sustained engraftment and the simultaneous presence of haematopoietic cells of both donor and recipient origin is not a rare event after a transplant.