Lista de obras - Markus G. Seidel - Dominio Público Uruguay

A novel immunodeficiency syndrome associated with partial trisomy 19p13.

artículo científico publicado en 2014

A novel mutation in ATRX associated with intellectual disability, syndromic features, and osteosarcoma.

artículo científico publicado en 2017

A prospective study on the natural history of patients with profound combined immunodeficiency: An interim analysis.

artículo científico publicado en 2016

A sensitive and scalable microsatellite instability assay to diagnose constitutional mismatch repair deficiency by sequencing of peripheral blood leukocytes

scientific article published on 06 March 2019

Abnormally differentiated CD4+ or CD8+ T cells with phenotypic and genetic features of double negative T cells in human Fas deficiency

artículo científico publicado en 2014

Activation of mitogen-activated protein kinase by the A(2A)-adenosine receptor via a rap1-dependent and via a p21(ras)-dependent pathway

artículo científico publicado en 1999

Acute promyelocytic leukemia complicated by massive intracerebral hemorrhage: safety and efficacy of replacing conventional chemotherapy with arsenic trioxide in an adolescent ⬇️

artículo científico publicado el 26 de abril de 2013

Allogeneic Hematopoietic Stem Cell Transplantation for Congenital Immune Dysregulatory Disorders

artículo científico publicado en 2019

Amphotericin B transfer to CSF following intravenous administration of liposomal amphotericin B.

artículo científico publicado en 2014

Antithymocyte globulin pharmacokinetics in pediatric patients after hematopoietic stem cell transplantation

artículo científico publicado en 2005

Autoimmune and other cytopenias in primary immunodeficiencies: pathomechanisms, novel differential diagnoses, and treatment

artículo científico publicado en 2014

B-cell deficiency and severe autoimmunity caused by deficiency of protein kinase C δ.

artículo científico publicado en 2013

Baby genome screening: paving the way to genetic discrimination?

artículo científico publicado en 2017

CD27: A new player in the field of common variable immunodeficiency and EBV-associated lymphoproliferative disorder? ⬇️

artículo científico publicado el 25 de febrero de 2012

Chilblain lupus and steroid-responsive pancytopenia precede monosomy 7-linked AML as manifestation of rasopathy

artículo científico publicado en 2017

Clinical and immunological overlap between autoimmune lymphoproliferative syndrome and common variable immunodeficiency.

artículo científico publicado en 2010

Concurrent FOXP3- and CTLA4-associated genetic predisposition and skewed X chromosome inactivation in an autoimmune disease-prone family

artículo científico publicado en 2012

Current Understanding and Future Research Priorities in Malignancy Associated With Inborn Errors of Immunity and DNA Repair Disorders: The Perspective of an Interdisciplinary Working Group

artículo científico publicado en 2018

Editorial: Current Challenges in Immune and Other Acquired Cytopenias of Childhood

artículo científico publicado en 2016

Editorial: The Relationship Between Cancer Predisposition and Primary Immunodeficiency

artículo científico publicado en 2019

Evolution of disease activity and biomarkers on and off rapamycin in 28 patients with autoimmune lymphoproliferative syndrome

artículo científico publicado en 2016

Expression of the putatively regulatory T-cell marker FOXP3 by CD4(+)CD25+ T cells after pediatric hematopoietic stem cell transplantation.

artículo científico publicado en 2006

Fatal EBV infection and variable clinical manifestations in an XLP-1 pedigree - rapid diagnosis of primary immunodeficiencies may save lives.

artículo científico publicado en 2012

Ferritin concentrations correlate to outcome of hematopoietic stem cell transplantation but do not serve as biomarker of graft-versus-host disease

artículo científico publicado en 2013

Functional type 1 regulatory T cells develop regardless of FOXP3 mutations in patients with IPEX syndrome.

artículo científico publicado en 2011

Granulocyte transfusions in children and young adults: does the dose matter?

artículo científico publicado en 2009

Hematopoietic stem cell transplantation positively affects the natural history of cancer in Nijmegen breakage syndrome

artículo científico publicado en 2020

High response rate but short-term effect of romiplostim in paediatric refractory chronic immune thrombocytopenia

artículo científico publicado en 2014

IVIG treatment of adenovirus infection-associated macrophage activation syndrome in a two-year-old boy: case report and review of the literature.

artículo científico publicado en 2003

Immune Dysregulation Syndromes (IPEX, CD27 Deficiency, and Others): Always Doomed from the Start?

artículo científico publicado en 2015

Immune Thrombocytopenia in Two Unrelated Fanconi Anemia Patients - A Mere Coincidence?

artículo científico publicado en 2015

In vitro and in vivo T-cell depletion with myeloablative or reduced-intensity conditioning in pediatric hematopoietic stem cell transplantation.

artículo científico publicado en 2005

Intrinsic and extrinsic causes of malignancies in patients with primary immunodeficiency disorders

artículo científico publicado en 2017

Invasive mucormycosis during treatment for acute lymphoblastic leukaemia-successful management of two life-threatening diseases

scientific article published on 14 August 2019

Lethal pulmonary complications after pediatric allogeneic hematopoietic stem cell transplantation

artículo científico publicado en 2012

Life-threatening sinusoidal obstruction syndrome after high-dose chemotherapy linked to compound heterozygous mutations in ABCB11.

artículo científico publicado en 2017

Long-term follow up of IPEX syndrome patients after different therapeutic strategies: an international multicenter retrospective study.

artículo científico publicado en 2017

Long-term outcome of LRBA deficiency in 76 patients after various treatment modalities as evaluated by the immune deficiency and dysregulation activity (IDDA) score

scientific article published on 27 December 2019

Long-term remission after allogeneic hematopoietic stem cell transplantation in LPS-responsive beige-like anchor (LRBA) deficiency

artículo científico publicado en 2014

Long-term remission in pediatric Wegener granulomatosis following allo-SCT after reduced-intensity conditioning

scientific article published on 07 June 2010

Malignancy and chemotherapy induced haemophagocytic lymphohistiocytosis in children and adolescents-a single centre experience of 20 years.

artículo científico publicado en 2018

Management of chronic immune thrombocytopenia in children and adolescents: lessons from an Austrian national cross-sectional study of 81 patients

artículo científico publicado en 2016

Mannan-binding lectin deficiency attenuates acute GvHD in pediatric hematopoietic stem cell transplantation.

artículo científico publicado en 2015

Mannan-binding lectin deficiency — Good news, bad news, doesn't matter? ⬇️

artículo científico publicado el 13 de noviembre de 2011

Minimal residual disease values discriminate between low and high relapse risk in children with B-cell precursor acute lymphoblastic leukemia and an intrachromosomal amplification of chromosome 21: the Austrian and German acute lymphoblastic leukemi

artículo científico publicado en 2008

Nfil3/E4bp4 is required for the development and maturation of NK cells in vivo

artículo científico publicado en 2009

Nijmegen Breakage Syndrome: Clinical and Immunological Features, Long-Term Outcome and Treatment Options - a Retrospective Analysis.

artículo científico publicado en 2015

No Overt Clinical Immunodeficiency Despite Immune Biological Abnormalities in Patients With Constitutional Mismatch Repair Deficiency.

artículo científico publicado en 2018

Non-atopic IgE and eosinophil cationic protein after allogeneic hematopoietic stem cell transplantation in children

artículo científico publicado en 2012

Novel mutations in TNFRSF7/CD27: Clinical, immunologic, and genetic characterization of human CD27 deficiency

artículo científico

Novel phenotypes observed in patients with ETV6-linked leukaemia/familial thrombocytopenia syndrome and a biallelic ARID5B risk allele as leukaemogenic cofactor

artículo científico publicado en 2019

Primary immunodeficiency associated with chromosomal aberration - an ESID survey

artículo científico publicado en 2016

Randomized phase III study of granulocyte transfusions in neutropenic patients

artículo científico publicado en 2008

Recessive grey platelet-like syndrome with unaffected erythropoiesis in the absence of the splice isoform GFI1B-p37.

artículo científico publicado en 2017

Repertoire Sequencing of B Cells Elucidates the Role of UNG and Mismatch Repair Proteins in Somatic Hypermutation in Humans

artículo científico publicado en 2019

Risk factors for mixed chimerism in children with hemophagocytic lymphohistiocytosis after reduced toxicity conditioning

artículo científico publicado en 2020

Selective engraftment of donor CD4+25high FOXP3-positive T cells in IPEX syndrome after nonmyeloablative hematopoietic stem cell transplantation

artículo científico publicado en 2009

Sequential decisions on FAS sequencing guided by biomarkers in patients with lymphoproliferation and autoimmune cytopenia

scientific article published on 12 July 2013

Sirolimus for the treatment of children with various complicated vascular anomalies.

artículo científico publicado en 2015

Slug, a highly conserved zinc finger transcriptional repressor, protects hematopoietic progenitor cells from radiation-induced apoptosis in vivo.

artículo científico publicado en 2002

Spectrum and management of complement immunodeficiencies (excluding hereditary angioedema) across Europe

artículo científico publicado en 2015

Stimulation of natural killer activity in peripheral blood lymphocytes of healthy donors and melanoma patients in vitro: synergism between interleukin (IL)-12 and IL-15 or IL-12 and IL-2.

artículo científico publicado en 1998

Successful Treatment with SCIG of a Child with Refractory Chronic ITP

scientific article published on 10 January 2019

The European Society for Immunodeficiencies (ESID) Registry Working Definitions for the Clinical Diagnosis of Inborn Errors of Immunity

artículo científico publicado en 2019

The Iceberg Map of germline mutations in childhood cancer: focus on primary immunodeficiencies

scientific article published on 01 December 2018

The Immune Deficiency and Dysregulation Activity (IDDA2.1 ‘Kaleidoscope’) Score and Other Clinical Measures in Inborn Errors of Immunity

artículo científico publicado en 2021

The Pattern of Malignancies in Down Syndrome and Its Potential Context With the Immune System

artículo científico publicado en 2018

The Phenotype and Treatment of WIP Deficiency: Literature Synopsis and Review of a Patient With Pre-transplant Serial Donor Lymphocyte Infusions to Eliminate CMV

scientific article published on 02 November 2018

The extended phenotype of LPS-responsive beige-like anchor protein (LRBA) deficiency

artículo científico publicado en 2016

The minimum required level of donor chimerism in hereditary hemophagocytic lymphohistiocytosis

artículo científico publicado en 2016

The most frequent DCLRE1C (ARTEMIS) mutations are based on homologous recombination events

article

The syndrome of hemophagocytic lymphohistiocytosis in primary immunodeficiencies: implications for differential diagnosis and pathogenesis

artículo científico publicado en 2015

There's no such fool like an immunosenescent fool

artículo científico publicado en 2015

Tick-borne encephalitis virus vaccine as additional alternative neoantigen for the clinical immunologist's toolbox.

artículo científico publicado en 2012

Treatment of severe forms of LPS-responsive beige-like anchor protein deficiency with allogeneic hematopoietic stem cell transplantation

artículo científico publicado en 2017

Treatment with rapamycin can restore regulatory T-cell function in IPEX patients

artículo científico publicado en 2019

Two newly diagnosed HLA class II-deficient patients identified by rapid vector-based complementation analysis reveal discoordinate invariant chain expression levels.

artículo científico publicado en 2010

Unrelated CD3/CD19-depleted peripheral stem cell transplantation for Hurler syndrome

artículo científico publicado en 2014

Vaccination against tick-borne encephalitis virus tests specific IgG production ability in patients under immunoglobulin substitution therapy

artículo científico publicado en 2010

WIP deficiency severely affects human lymphocyte architecture during migration and synapse assembly.

artículo científico publicado en 2017

[Adjuvant autologous tumour cell vaccination in patients with renal cell carcinoma. Overall survival analysis with a follow-up period in excess of more than 10 years].

artículo científico publicado en 2009

Lista de obras de Markus G. Seidel

A novel immunodeficiency syndrome associated with partial trisomy 19p13.

A novel mutation in ATRX associated with intellectual disability, syndromic features, and osteosarcoma.

A prospective study on the natural history of patients with profound combined immunodeficiency: An interim analysis.

A sensitive and scalable microsatellite instability assay to diagnose constitutional mismatch repair deficiency by sequencing of peripheral blood leukocytes

Abnormally differentiated CD4+ or CD8+ T cells with phenotypic and genetic features of double negative T cells in human Fas deficiency

Activation of mitogen-activated protein kinase by the A(2A)-adenosine receptor via a rap1-dependent and via a p21(ras)-dependent pathway

Acute promyelocytic leukemia complicated by massive intracerebral hemorrhage: safety and efficacy of replacing conventional chemotherapy with arsenic trioxide in an adolescent ⬇️

Allogeneic Hematopoietic Stem Cell Transplantation for Congenital Immune Dysregulatory Disorders

Amphotericin B transfer to CSF following intravenous administration of liposomal amphotericin B.

Antithymocyte globulin pharmacokinetics in pediatric patients after hematopoietic stem cell transplantation

Autoimmune and other cytopenias in primary immunodeficiencies: pathomechanisms, novel differential diagnoses, and treatment

B-cell deficiency and severe autoimmunity caused by deficiency of protein kinase C δ.

Baby genome screening: paving the way to genetic discrimination?

CD27: A new player in the field of common variable immunodeficiency and EBV-associated lymphoproliferative disorder? ⬇️

Chilblain lupus and steroid-responsive pancytopenia precede monosomy 7-linked AML as manifestation of rasopathy

Clinical and immunological overlap between autoimmune lymphoproliferative syndrome and common variable immunodeficiency.

Concurrent FOXP3- and CTLA4-associated genetic predisposition and skewed X chromosome inactivation in an autoimmune disease-prone family

Current Understanding and Future Research Priorities in Malignancy Associated With Inborn Errors of Immunity and DNA Repair Disorders: The Perspective of an Interdisciplinary Working Group

Editorial: Current Challenges in Immune and Other Acquired Cytopenias of Childhood

Editorial: The Relationship Between Cancer Predisposition and Primary Immunodeficiency

Evolution of disease activity and biomarkers on and off rapamycin in 28 patients with autoimmune lymphoproliferative syndrome

Expression of the putatively regulatory T-cell marker FOXP3 by CD4(+)CD25+ T cells after pediatric hematopoietic stem cell transplantation.

Fatal EBV infection and variable clinical manifestations in an XLP-1 pedigree - rapid diagnosis of primary immunodeficiencies may save lives.

Ferritin concentrations correlate to outcome of hematopoietic stem cell transplantation but do not serve as biomarker of graft-versus-host disease

Functional type 1 regulatory T cells develop regardless of FOXP3 mutations in patients with IPEX syndrome.

Granulocyte transfusions in children and young adults: does the dose matter?

Hematopoietic stem cell transplantation positively affects the natural history of cancer in Nijmegen breakage syndrome

High response rate but short-term effect of romiplostim in paediatric refractory chronic immune thrombocytopenia

IVIG treatment of adenovirus infection-associated macrophage activation syndrome in a two-year-old boy: case report and review of the literature.

Immune Dysregulation Syndromes (IPEX, CD27 Deficiency, and Others): Always Doomed from the Start?

Immune Thrombocytopenia in Two Unrelated Fanconi Anemia Patients - A Mere Coincidence?

In vitro and in vivo T-cell depletion with myeloablative or reduced-intensity conditioning in pediatric hematopoietic stem cell transplantation.

Intrinsic and extrinsic causes of malignancies in patients with primary immunodeficiency disorders

Invasive mucormycosis during treatment for acute lymphoblastic leukaemia-successful management of two life-threatening diseases

Lethal pulmonary complications after pediatric allogeneic hematopoietic stem cell transplantation

Life-threatening sinusoidal obstruction syndrome after high-dose chemotherapy linked to compound heterozygous mutations in ABCB11.

Long-term follow up of IPEX syndrome patients after different therapeutic strategies: an international multicenter retrospective study.

Long-term outcome of LRBA deficiency in 76 patients after various treatment modalities as evaluated by the immune deficiency and dysregulation activity (IDDA) score

Long-term remission after allogeneic hematopoietic stem cell transplantation in LPS-responsive beige-like anchor (LRBA) deficiency

Long-term remission in pediatric Wegener granulomatosis following allo-SCT after reduced-intensity conditioning

Malignancy and chemotherapy induced haemophagocytic lymphohistiocytosis in children and adolescents-a single centre experience of 20 years.

Management of chronic immune thrombocytopenia in children and adolescents: lessons from an Austrian national cross-sectional study of 81 patients

Mannan-binding lectin deficiency attenuates acute GvHD in pediatric hematopoietic stem cell transplantation.

Mannan-binding lectin deficiency — Good news, bad news, doesn't matter? ⬇️

Minimal residual disease values discriminate between low and high relapse risk in children with B-cell precursor acute lymphoblastic leukemia and an intrachromosomal amplification of chromosome 21: the Austrian and German acute lymphoblastic leukemi

Nfil3/E4bp4 is required for the development and maturation of NK cells in vivo

Nijmegen Breakage Syndrome: Clinical and Immunological Features, Long-Term Outcome and Treatment Options - a Retrospective Analysis.

No Overt Clinical Immunodeficiency Despite Immune Biological Abnormalities in Patients With Constitutional Mismatch Repair Deficiency.

Non-atopic IgE and eosinophil cationic protein after allogeneic hematopoietic stem cell transplantation in children

Novel mutations in TNFRSF7/CD27: Clinical, immunologic, and genetic characterization of human CD27 deficiency

Novel phenotypes observed in patients with ETV6-linked leukaemia/familial thrombocytopenia syndrome and a biallelic ARID5B risk allele as leukaemogenic cofactor

Primary immunodeficiency associated with chromosomal aberration - an ESID survey

Randomized phase III study of granulocyte transfusions in neutropenic patients

Recessive grey platelet-like syndrome with unaffected erythropoiesis in the absence of the splice isoform GFI1B-p37.

Repertoire Sequencing of B Cells Elucidates the Role of UNG and Mismatch Repair Proteins in Somatic Hypermutation in Humans

Risk factors for mixed chimerism in children with hemophagocytic lymphohistiocytosis after reduced toxicity conditioning

Selective engraftment of donor CD4+25high FOXP3-positive T cells in IPEX syndrome after nonmyeloablative hematopoietic stem cell transplantation

Sequential decisions on FAS sequencing guided by biomarkers in patients with lymphoproliferation and autoimmune cytopenia

Sirolimus for the treatment of children with various complicated vascular anomalies.

Slug, a highly conserved zinc finger transcriptional repressor, protects hematopoietic progenitor cells from radiation-induced apoptosis in vivo.

Spectrum and management of complement immunodeficiencies (excluding hereditary angioedema) across Europe

Stimulation of natural killer activity in peripheral blood lymphocytes of healthy donors and melanoma patients in vitro: synergism between interleukin (IL)-12 and IL-15 or IL-12 and IL-2.

Successful Treatment with SCIG of a Child with Refractory Chronic ITP

The European Society for Immunodeficiencies (ESID) Registry Working Definitions for the Clinical Diagnosis of Inborn Errors of Immunity

The Iceberg Map of germline mutations in childhood cancer: focus on primary immunodeficiencies

The Immune Deficiency and Dysregulation Activity (IDDA2.1 ‘Kaleidoscope’) Score and Other Clinical Measures in Inborn Errors of Immunity

The Pattern of Malignancies in Down Syndrome and Its Potential Context With the Immune System

The Phenotype and Treatment of WIP Deficiency: Literature Synopsis and Review of a Patient With Pre-transplant Serial Donor Lymphocyte Infusions to Eliminate CMV

The extended phenotype of LPS-responsive beige-like anchor protein (LRBA) deficiency

The minimum required level of donor chimerism in hereditary hemophagocytic lymphohistiocytosis

The most frequent DCLRE1C (ARTEMIS) mutations are based on homologous recombination events

The syndrome of hemophagocytic lymphohistiocytosis in primary immunodeficiencies: implications for differential diagnosis and pathogenesis

There's no such fool like an immunosenescent fool

Tick-borne encephalitis virus vaccine as additional alternative neoantigen for the clinical immunologist's toolbox.

Treatment of severe forms of LPS-responsive beige-like anchor protein deficiency with allogeneic hematopoietic stem cell transplantation

Treatment with rapamycin can restore regulatory T-cell function in IPEX patients

Two newly diagnosed HLA class II-deficient patients identified by rapid vector-based complementation analysis reveal discoordinate invariant chain expression levels.

Unrelated CD3/CD19-depleted peripheral stem cell transplantation for Hurler syndrome

Vaccination against tick-borne encephalitis virus tests specific IgG production ability in patients under immunoglobulin substitution therapy