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A Mendelian predisposition to B-cell lymphoma caused by IL-10R deficiency

artículo científico publicado en 2013

A survey of 90 patients with autoimmune lymphoproliferative syndrome related to TNFRSF6 mutation

artículo científico publicado en 2011

Allogeneic bone marrow transplantation in mevalonic aciduria

artículo científico publicado en 2007

Autoimmune Lymphoproliferative Syndrome Presenting with Invasive Streptococcus pneumoniae Infection

artículo científico publicado en 2020

Autoimmune lymphoproliferative syndrome caused by a homozygous null FAS ligand (FASLG) mutation

scientific article published on 31 July 2012

CD45RA depletion in HLA-mismatched allogeneic hematopoietic stem cell transplantation for primary combined immunodeficiency: A preliminary study

artículo científico publicado en 2014

Characteristics and outcome of early-onset, severe forms of Wiskott-Aldrich syndrome

artículo científico publicado en 2012

Circulating endothelial cells as markers of endothelial dysfunction during hematopoietic stem cell transplantation for pediatric primary immunodeficiency

scholarly article by Fabien Touzot et al published November 2014 in The Journal of Allergy and Clinical Immunology

Concomitant PIK3CD and TNFRSF9 deficiencies cause chronic active Epstein-Barr virus infection of T cells

artículo científico publicado en 2019

Corrigendum: Natural Killer Cells from Patients with Recombinase-Activating Gene and Non-Homologous End Joining Gene Defects Comprise a Higher Frequency of CD56bright NKG2A+++ Cells, and Yet Display Increased Degranulation and Higher Perforin Conten

artículo científico publicado en 2017

Current Knowledge and Priorities for Future Research in Late Effects after Hematopoietic Stem Cell Transplantation (HCT) for Severe Combined Immunodeficiency Patients: A Consensus Statement from the Second Pediatric Blood and Marrow Transplant Conso

artículo científico publicado en 2017

Defective anti-polysaccharide response and splenic marginal zone disorganization in ALPS patients

artículo científico publicado en 2014

Diagnosis of autoimmune lymphoproliferative syndrome caused by FAS deficiency in adults

artículo científico publicado en 2012

Donor-targeted serotherapy as a rescue therapy for steroid-resistant acute GVHD after HLA-mismatched kidney transplantation

artículo científico publicado en 2020

Early-onset hypogammaglobulinemia: A survey of 44 patients

artículo científico publicado en 2015

Epithelial barrier dysfunction in desmoglein-1 deficiency

artículo científico publicado en 2018

Evaluation of antithymocyte globulin pharmacokinetics and pharmacodynamics in children

scholarly article by Naïm Bouazza et al published January 2016 in The Journal of Allergy and Clinical Immunology

Evidence of innate lymphoid cell redundancy in humans

artículo científico publicado en 2016

FAS-L, IL-10, and double-negative CD4- CD8- TCR alpha/beta+ T cells are reliable markers of autoimmune lymphoproliferative syndrome (ALPS) associated with FAS loss of function

artículo científico publicado en 2009

Faster T-cell development following gene therapy compared with haploidentical HSCT in the treatment of SCID-X1.

artículo científico publicado en 2015

First use of thymus transplantation therapy for FOXN1 deficiency (nude/SCID): a report of 2 cases

artículo científico publicado en 2010

Helper T cell immunity in humans with inherited CD4 deficiency

artículo científico publicado en 2024

Hematopoietic stem cell transplantation for severe combined immunodeficiency diseases

artículo científico publicado en 2008

Hematopoietic stem cell transplantation in Griscelli syndrome type 2: a single-center report on 10 patients

artículo científico publicado en 2009

Hematopoietic stem cell transplantation in hemophagocytic lymphohistiocytosis: a single-center report of 48 patients

artículo científico publicado en 2006

Hepatitis E virus in hematopoietic stem cell donors: Towards a systematic HEV screening of donors?

artículo científico publicado en 2015

Immune reconstitution after haematopoietic stem cell transplantation: obstacles and anticipated progress

artículo científico publicado en 2009

Inherited STING-activating mutation underlies a familial inflammatory syndrome with lupus-like manifestations

artículo científico publicado en 2014

Intestinal dysbiosis in Inflammatory Bowel Disease associated with primary immunodeficiency

artículo científico publicado en 2018

Kaposi’s sarcoma in a child with Wiskott-Aldrich syndrome

article by Capucine Picard et al published 7 April 2006 in European Journal of Pediatrics

LRBA deficiency with autoimmunity and early onset chronic erosive polyarthritis

artículo científico publicado en 2016

Long-term T-cell reconstitution after hematopoietic stem-cell transplantation in primary T-cell-immunodeficient patients is associated with myeloid chimerism and possibly the primary disease phenotype

scientific article published on 01 February 2007

Long-term outcome after hematopoietic stem cell transplantation of a single-center cohort of 90 patients with severe combined immunodeficiency

artículo científico publicado en 2009

Mammalian target of rapamycin inhibition counterbalances the inflammatory status of immune cells in patients with chronic granulomatous disease

artículo científico publicado en 2016

Monoclonal antibody-mediated neutralization of SARS-CoV-2 in an IRF9-deficient child

artículo científico publicado en 2021

Mutations in the adaptor-binding domain and associated linker region of p110δ cause Activated PI3K-δ Syndrome 1 (APDS1).

artículo científico publicado en 2017

Natural Killer Cells from Patients with Recombinase-Activating Gene and Non-Homologous End Joining Gene Defects Comprise a Higher Frequency of CD56bright NKG2A+++ Cells, and Yet Display Increased Degranulation and Higher Perforin Content

artículo científico publicado en 2017

Occurrence of myelodysplastic syndrome in 2 patients with reticular dysgenesis

artículo científico publicado en 2011

Onset of autoimmune lymphoproliferative syndrome (ALPS) in humans as a consequence of genetic defect accumulation

artículo científico publicado en 2010

Outcomes and Treatment Strategies for Autoimmunity and Hyperinflammation in Patients with RAG Deficiency

scientific article published on 12 March 2019

Pediatric-onset Evans syndrome: Heterogeneous presentation and high frequency of monogenic disorders including LRBA and CTLA4 mutations

artículo científico publicado en 2018

RAS-associated lymphoproliferative disease evolves into severe juvenile myelo-monocytic leukemia

artículo científico publicado en 2014

Recommendations for Screening and Management of Late Effects in Patients with Severe Combined Immunodeficiency after Allogenic Hematopoietic Cell Transplantation: A Consensus Statement from the Second Pediatric Blood and Marrow Transplant Consortium

artículo científico publicado en 2017

Reduced expression of FOXP3 and regulatory T-cell function in severe forms of early-onset autoimmune enteropathy

artículo científico publicado en 2010

Severe combined immunodeficiencies and related disorders

artículo científico publicado en 2015

Sickle cell disease: an international survey of results of HLA-identical sibling hematopoietic stem cell transplantation

artículo científico publicado en 2016

Specific T cells for the treatment of cytomegalovirus and/or adenovirus in the context of hematopoietic stem cell transplantation

artículo científico publicado en 2016

Stem cell transplantation for primary immunodeficiencies: the European experience

artículo científico publicado en 2014

Successful haematopoietic stem cell transplantation in a case of pulmonary alveolar proteinosis due to GM-CSF receptor deficiency

scientific article published on 20 December 2017

Systematic neonatal screening for severe combined immunodeficiency and severe T-cell lymphopenia: Analysis of cost-effectiveness based on French real field data

artículo científico publicado en 2015

The Autoimmune Lymphoproliferative Syndrome with Defective FAS or FAS-Ligand Functions

scholarly article by Frédéric Rieux-Laucat et al published 17 June 2018 in Journal of Clinical Immunology

The CARD11-BCL10-MALT1 (CBM) signalosome complex: Stepping into the limelight of human primary immunodeficiency

artículo científico publicado en 2014