Lista de obras - Carsten Speckmann - Dominio Público Uruguay

A RAB27A 5' untranslated region structural variant associated with late-onset hemophagocytic lymphohistiocytosis and normal pigmentation.

artículo científico publicado en 2018

A new functional assay for the diagnosis of X-linked inhibitor of apoptosis (XIAP) deficiency.

artículo científico publicado en 2014

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

artículo científico publicado en 2016

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

Activated PI3Kδ syndrome type 2: Two patients, a novel mutation, and review of the literature

artículo científico publicado en 2016

Activating PI3Kδ mutations in a cohort of 669 patients with primary immunodeficiency

artículo científico publicado en 2015

Antiviral and regulatory T cell immunity in a patient with stromal interaction molecule 1 deficiency

artículo científico publicado en 2011

Atypical familial hemophagocytic lymphohistiocytosis due to mutations in UNC13D and STXBP2 overlaps with primary immunodeficiency diseases

artículo científico publicado en 2010

Autosomal dominant immune dysregulation syndrome in humans with CTLA4 mutations

artículo científico publicado en 2014

CD57 identifies T cells with functional senescence before terminal differentiation and relative telomere shortening in patients with activated PI3 kinase delta syndrome

artículo científico publicado en 2018

Chronic inflammatory bowel disease as key manifestation of atypical ARTEMIS deficiency

artículo científico publicado en 2009

Clinical and Molecular Heterogeneity of RTEL1 Deficiency

artículo científico publicado en 2017

Clinical and immunologic consequences of a somatic reversion in a patient with X-linked severe combined immunodeficiency

artículo científico publicado en 2008

Clinical and immunological manifestations of patients with atypical severe combined immunodeficiency.

artículo científico publicado en 2011

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

artículo científico publicado en 2010

Clinical spectrum and features of activated phosphoinositide 3-kinase δ syndrome: A large patient cohort study ⬇️

artículo científico publicado en 2016

Clonality analysis after retroviral-mediated gene transfer to CD34+ cells from the cord blood of ADA-deficient SCID neonates

artículo científico publicado en 2003

Corrigendum: Clinical and Molecular Heterogeneity of RTEL1 Deficiency

artículo científico publicado en 2017

Delayed-onset adenosine deaminase deficiency: Strategies for an early diagnosis

artículo científico publicado en 2012

Diagnosis of immunodeficiency caused by a purine nucleoside phosphorylase defect by using tandem mass spectrometry on dried blood spots

artículo científico publicado en 2014

Diagnostic and therapeutic challenges in a child with complete interferon-γ receptor 1 deficiency

artículo científico publicado en 2015

Disease-causing mutations in the XIAP BIR2 domain impair NOD2-dependent immune signalling

scientific article published on July 2013

Disturbed B-lymphocyte selection in autoimmune lymphoproliferative syndrome

artículo científico publicado en 2016

Disturbed B-lymphocytes selection in autoimmune lymphoproliferative syndrome

artículo científico publicado en 2015

Effective Immunological Guidance of Genetic Analyses Including Exome Sequencing in Patients Evaluated for Hemophagocytic Lymphohistiocytosis.

artículo científico publicado en 2017

Elevated Serum BAFF Levels in Patients with Autoimmunity and Lymphoproliferation

artículo científico publicado en 2011

Epigenetic immune cell counting in human blood samples for immunodiagnostics

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

artículo científico publicado en 2016

Germline deletion of CIN85 in humans with X chromosome-linked antibody deficiency

artículo científico publicado en 2018

Gray platelet syndrome can mimic autoimmune lymphoproliferative syndrome

artículo científico publicado en 2015

Hematopoietic stem cell transplantation for CD40 ligand deficiency: results from an EBMT/ESID-IEWP-SCETIDE-PIDTC Study

scientific article published on 17 January 2019

Hemophagocytic lymphohistiocytosis as presenting manifestation of profound combined immunodeficiency due to an ORAI1 mutation

artículo científico publicado en 2017

Human RAD52 - a novel player in DNA repair in cancer and immunodeficiency

artículo científico publicado en 2016

Hyperactive mTOR pathway promotes lymphoproliferation and abnormal differentiation in autoimmune lymphoproliferative syndrome.

artículo científico publicado en 2016

IgG4-related disease in autoimmune lymphoproliferative syndrome

artículo científico publicado en 2017

Lethal hemophagocytic lymphohistiocytosis in Hermansky-Pudlak syndrome type II

artículo científico publicado en 2006

Long-term outcomes of 176 patients with X-linked hyper-IgM syndrome treated with or without hematopoietic cell transplantation

artículo científico publicado en 2016

Newborn screening for severe combined immunodeficiency using a novel and simplified method to measure T-cell excision circles (TREC).

artículo científico publicado en 2016

ORAI1 mutations abolishing store-operated Ca2+ entry cause anhidrotic ectodermal dysplasia with immunodeficiency

artículo científico publicado en 2017

Omenn syndrome associated with a functional reversion due to a somatic second-site mutation in CARD11 deficiency

artículo científico publicado en 2015

Outcome of hematopoietic stem cell transplantation for adenosine deaminase-deficient severe combined immunodeficiency.

artículo científico publicado en 2012

PGM3 mutations cause a congenital disorder of glycosylation with severe immunodeficiency and skeletal dysplasia

artículo científico publicado en 2014

Pathogenic fungi regulate immunity by inducing neutrophilic myeloid-derived suppressor cells

artículo científico publicado en 2015

Patients with T+/lowNK+IL-2 receptor γ chain deficiency have differentially-impaired cytokine signaling resulting in severe combined immunodeficiency

artículo científico publicado en 2014

Phenotype, penetrance, and treatment of 133 cytotoxic T-lymphocyte antigen 4-insufficient subjects

artículo científico publicado en 2018

Platelet secretion defect in a patient with stromal interaction molecule 1 deficiency.

artículo científico publicado en 2013

Preserved effector functions of human ORAI1- and STIM1-deficient neutrophils

artículo científico publicado en 2015

Prevalence and clinical challenges among adults with primary immunodeficiency and recombination-activating gene deficiency. ⬇️

artículo científico publicado en 2018

RAG1 deficiency with a shifting B cell phenotype and chromosomal instability

artículo científico publicado en 2014

Reduced memory B cells in patients with hyper IgE syndrome

artículo científico publicado en 2008

Reversible pancytopenia and immunodeficiency in a patient with hereditary folate malabsorption

artículo científico publicado en 2014

SYK expression endows human ZAP70-deficient CD8 T cells with residual TCR signaling

artículo científico publicado en 2015

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

scientific article published on 12 July 2013

Symptomatic Cytomegalovirus Infections in the First Year of Life: When Is Antiviral Therapy Conceived to Be Justified?

artículo científico publicado en 2017

Symptomatic males and female carriers in a large Caucasian kindred with XIAP deficiency

artículo científico publicado en 2015

Tandem mass spectrometry, but not T-cell receptor excision circle analysis, identifies newborns with late-onset adenosine deaminase deficiency

artículo científico publicado en 2012

Targeted Gene Panel Sequencing for Early-onset Inflammatory Bowel Disease and Chronic Diarrhea.

artículo científico publicado en 2017

The BEACH protein LRBA is required for hair bundle maintenance in cochlear hair cells and for hearing

artículo científico publicado en 2017

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

artículo científico publicado en 2016

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

artículo científico publicado en 2015

Transplantation from a symptomatic carrier sister restores host defenses but does not prevent colitis in NEMO deficiency

artículo científico publicado en 2016

Variable impairment of platelet functions in patients with severe, genetically linked immune deficiencies.

artículo científico publicado en 2017

X-linked Inhibitor of Apoptosis Complicated by Granulomatous Lymphocytic Interstitial Lung Disease (GLILD) and Granulomatous Hepatitis

artículo científico publicado en 2016

X-linked inhibitor of apoptosis (XIAP) deficiency: the spectrum of presenting manifestations beyond hemophagocytic lymphohistiocytosis.

artículo científico publicado en 2013

XIAP deficiency and MEFV variants resulting in an autoinflammatory lymphoproliferative syndrome

artículo científico publicado en 2016

XIAP deficiency is a mendelian cause of late-onset IBD.

artículo científico publicado en 2013

Lista de obras de Carsten Speckmann

A RAB27A 5' untranslated region structural variant associated with late-onset hemophagocytic lymphohistiocytosis and normal pigmentation.

A new functional assay for the diagnosis of X-linked inhibitor of apoptosis (XIAP) deficiency.

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

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

Activated PI3Kδ syndrome type 2: Two patients, a novel mutation, and review of the literature

Activating PI3Kδ mutations in a cohort of 669 patients with primary immunodeficiency

Antiviral and regulatory T cell immunity in a patient with stromal interaction molecule 1 deficiency

Atypical familial hemophagocytic lymphohistiocytosis due to mutations in UNC13D and STXBP2 overlaps with primary immunodeficiency diseases

Autosomal dominant immune dysregulation syndrome in humans with CTLA4 mutations

CD57 identifies T cells with functional senescence before terminal differentiation and relative telomere shortening in patients with activated PI3 kinase delta syndrome

Chronic inflammatory bowel disease as key manifestation of atypical ARTEMIS deficiency

Clinical and Molecular Heterogeneity of RTEL1 Deficiency

Clinical and immunologic consequences of a somatic reversion in a patient with X-linked severe combined immunodeficiency

Clinical and immunological manifestations of patients with atypical severe combined immunodeficiency.

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

Clinical spectrum and features of activated phosphoinositide 3-kinase δ syndrome: A large patient cohort study ⬇️

Clonality analysis after retroviral-mediated gene transfer to CD34+ cells from the cord blood of ADA-deficient SCID neonates

Corrigendum: Clinical and Molecular Heterogeneity of RTEL1 Deficiency

Delayed-onset adenosine deaminase deficiency: Strategies for an early diagnosis

Diagnosis of immunodeficiency caused by a purine nucleoside phosphorylase defect by using tandem mass spectrometry on dried blood spots

Diagnostic and therapeutic challenges in a child with complete interferon-γ receptor 1 deficiency

Disease-causing mutations in the XIAP BIR2 domain impair NOD2-dependent immune signalling

Disturbed B-lymphocyte selection in autoimmune lymphoproliferative syndrome

Disturbed B-lymphocytes selection in autoimmune lymphoproliferative syndrome

Effective Immunological Guidance of Genetic Analyses Including Exome Sequencing in Patients Evaluated for Hemophagocytic Lymphohistiocytosis.

Elevated Serum BAFF Levels in Patients with Autoimmunity and Lymphoproliferation

Epigenetic immune cell counting in human blood samples for immunodiagnostics

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

Germline deletion of CIN85 in humans with X chromosome-linked antibody deficiency

Gray platelet syndrome can mimic autoimmune lymphoproliferative syndrome

Hematopoietic stem cell transplantation for CD40 ligand deficiency: results from an EBMT/ESID-IEWP-SCETIDE-PIDTC Study

Hemophagocytic lymphohistiocytosis as presenting manifestation of profound combined immunodeficiency due to an ORAI1 mutation

Human RAD52 - a novel player in DNA repair in cancer and immunodeficiency

Hyperactive mTOR pathway promotes lymphoproliferation and abnormal differentiation in autoimmune lymphoproliferative syndrome.

IgG4-related disease in autoimmune lymphoproliferative syndrome

Lethal hemophagocytic lymphohistiocytosis in Hermansky-Pudlak syndrome type II

Long-term outcomes of 176 patients with X-linked hyper-IgM syndrome treated with or without hematopoietic cell transplantation

Newborn screening for severe combined immunodeficiency using a novel and simplified method to measure T-cell excision circles (TREC).

ORAI1 mutations abolishing store-operated Ca2+ entry cause anhidrotic ectodermal dysplasia with immunodeficiency

Omenn syndrome associated with a functional reversion due to a somatic second-site mutation in CARD11 deficiency

Outcome of hematopoietic stem cell transplantation for adenosine deaminase-deficient severe combined immunodeficiency.

PGM3 mutations cause a congenital disorder of glycosylation with severe immunodeficiency and skeletal dysplasia

Pathogenic fungi regulate immunity by inducing neutrophilic myeloid-derived suppressor cells

Patients with T+/lowNK+IL-2 receptor γ chain deficiency have differentially-impaired cytokine signaling resulting in severe combined immunodeficiency

Phenotype, penetrance, and treatment of 133 cytotoxic T-lymphocyte antigen 4-insufficient subjects

Platelet secretion defect in a patient with stromal interaction molecule 1 deficiency.

Preserved effector functions of human ORAI1- and STIM1-deficient neutrophils

Prevalence and clinical challenges among adults with primary immunodeficiency and recombination-activating gene deficiency. ⬇️

RAG1 deficiency with a shifting B cell phenotype and chromosomal instability

Reduced memory B cells in patients with hyper IgE syndrome

Reversible pancytopenia and immunodeficiency in a patient with hereditary folate malabsorption

SYK expression endows human ZAP70-deficient CD8 T cells with residual TCR signaling

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

Symptomatic Cytomegalovirus Infections in the First Year of Life: When Is Antiviral Therapy Conceived to Be Justified?

Symptomatic males and female carriers in a large Caucasian kindred with XIAP deficiency

Tandem mass spectrometry, but not T-cell receptor excision circle analysis, identifies newborns with late-onset adenosine deaminase deficiency

Targeted Gene Panel Sequencing for Early-onset Inflammatory Bowel Disease and Chronic Diarrhea.

The BEACH protein LRBA is required for hair bundle maintenance in cochlear hair cells and for hearing

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

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

Transplantation from a symptomatic carrier sister restores host defenses but does not prevent colitis in NEMO deficiency

Variable impairment of platelet functions in patients with severe, genetically linked immune deficiencies.

X-linked Inhibitor of Apoptosis Complicated by Granulomatous Lymphocytic Interstitial Lung Disease (GLILD) and Granulomatous Hepatitis

X-linked inhibitor of apoptosis (XIAP) deficiency: the spectrum of presenting manifestations beyond hemophagocytic lymphohistiocytosis.

XIAP deficiency and MEFV variants resulting in an autoinflammatory lymphoproliferative syndrome

XIAP deficiency is a mendelian cause of late-onset IBD.