Search filters

List of works by Alain Fischer

20 years of gene therapy for SCID.

scientific article

A Griscelli syndrome type 2 murine model of hemophagocytic lymphohistiocytosis (HLH).

scientific article

A human IFNGR1 small deletion hotspot associated with dominant susceptibility to mycobacterial infection

scientific article (publication date: April 1999)

A human immunodeficiency caused by mutations in the PIK3R1 gene

scientific article

A human immunodeficiency caused by mutations in the PIK3R1 gene

article

A human non-XLA immunodeficiency disease characterized by blockage of B cell development at an early proB cell stage

scientific article published on October 1996

A human postnatal lymphoid progenitor capable of circulating and seeding the thymus

scientific article

A human severe combined immunodeficiency (SCID) condition with increased sensitivity to ionizing radiations and impaired V(D)J rearrangements defines a new DNA recombination/repair deficiency

scientific article

A hypermorphic IkappaBalpha mutation is associated with autosomal dominant anhidrotic ectodermal dysplasia and T cell immunodeficiency

scientific article

A modified γ-retrovirus vector for X-linked severe combined immunodeficiency

scientific article

A newly identified isoform of Slp2a associates with Rab27a in cytotoxic T cells and participates to cytotoxic granule secretion

scientific article

A novel immunodeficiency associated with hypomorphic RAG1 mutations and CMV infection

scientific article

A novel immunoregulatory role for NK-cell cytotoxicity in protection from HLH-like immunopathology in mice.

scientific article published on 18 December 2014

A phenotypic approach for IUIS PID classification and diagnosis: guidelines for clinicians at the bedside

scientific article

A primary immunodeficiency characterized by defective immunoglobulin class switch recombination and impaired DNA repair

scientific article

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

scientific article (publication date: 3 November 2011)

AIRE deficiency in thymus of 2 patients with Omenn syndrome

scientific article

Activation-induced cytidine deaminase (AID) deficiency causes the autosomal recessive form of the Hyper-IgM syndrome (HIGM2)

scientific article

Activation-induced cytidine deaminase: structure-function relationship as based on the study of mutants

scientific article published on December 2006

Adenoviral infection presenting as an isolated central nervous system disease without detectable viremia in two children after stem cell transplantation

scientific article

Advances in adoptive immunotherapy to accelerate T-cellular immune reconstitution after HLA-incompatible hematopoietic stem cell transplantation

scientific article published on July 2010

Allogeneic hematopoietic stem-cell transplantation for leukocyte adhesion deficiency

scientific article (publication date: March 2009)

An inherited immunoglobulin class-switch recombination deficiency associated with a defect in the INO80 chromatin remodeling complex

scientific article

Artemis sheds new light on V(D)J recombination

scientific article published in August 2004

Autoantibodies against IL-17A, IL-17F, and IL-22 in patients with chronic mucocutaneous candidiasis and autoimmune polyendocrine syndrome type I

scientific article

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

scientific article published on 31 July 2012

Autoimmune lymphoproliferative syndrome with somatic Fas mutations

scientific article

Autoimmunity in Wiskott-Aldrich syndrome: risk factors, clinical features, and outcome in a single-center cohort of 55 patients

scientific article

Autosomal dominant STAT3 deficiency and hyper-IgE syndrome: molecular, cellular, and clinical features from a French national survey

scientific article published on July 2012

B cells from hyper-IgM patients carrying UNG mutations lack ability to remove uracil from ssDNA and have elevated genomic uracil

scientific article

Bone marrow transplantation for primary immunodeficiency diseases

scientific article published on February 2010

CD3 deficiencies

scientific article

CD4 ligation induces activation of protein kinase C zeta and phosphoinositide-dependent-protein kinase-1, two kinases required for down-regulation of LFA-1-mediated adhesion

scientific article

Cell-death signaling and human disease

scientific article

Cernunnos, a novel nonhomologous end-joining factor, is mutated in human immunodeficiency with microcephaly

scientific article

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

scientific article

Chronic Granulomatous Disease in Patients Reaching Adulthood: A Nationwide Study in France

scientific article published on March 2017

Chronic granulomatous disease: the European experience

scientific article

Chronic infantile neurological cutaneous and articular syndrome is caused by mutations in CIAS1, a gene highly expressed in polymorphonuclear cells and chondrocytes

scientific article

Clinical and immunologic phenotype associated with activated phosphoinositide 3-kinase δ syndrome 2: A cohort study ⬇️

scientific article published on 21 April 2016

Clinical similarities and differences of patients with X-linked lymphoproliferative syndrome type 1 (XLP-1/SAP deficiency) versus type 2 (XLP-2/XIAP deficiency).

scientific article published on 30 November 2010

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

scientific article published on 16 July 2016

Clinical, immunologic and genetic analysis of 29 patients with autosomal recessive hyper-IgM syndrome due to Activation-Induced Cytidine Deaminase deficiency

scientific article

Clinical, immunological, and pathological consequences of Fas-deficient conditions

scientific article published in September 1996

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

scientific article published on 19 September 2019

Contribution of high-throughput DNA sequencing to the study of primary immunodeficiencies

scientific article

Cytotoxic granule secretion by lymphocytes and its link to immune homeostasis

scientific article

DNA bar coding and pyrosequencing to analyze adverse events in therapeutic gene transfer

scientific article published on 14 April 2008

Defective CTLA-4 cycling pathway in Chediak-Higashi syndrome: a possible mechanism for deregulation of T lymphocyte activation

scientific article published on July 1999

Defective NKT cell development in mice and humans lacking the adapter SAP, the X-linked lymphoproliferative syndrome gene product

scientific article

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

scientific article published on 26 June 2014

Defective cytotoxic granule-mediated cell death pathway impairs T lymphocyte homeostasis

scientific article

Defective human interleukin 2 receptor gamma chain in an atypical X chromosome-linked severe combined immunodeficiency with peripheral T cells

scientific article

Deficient peptide loading and MHC class II endosomal sorting in a human genetic immunodeficiency disease: the Chediak-Higashi syndrome

scientific article

Detection of 28 novel mutations in the Wiskott-Aldrich syndrome and X-linked thrombocytopenia based on multiplex PCR.

scientific article

Detection of three nonsense mutations and one missense mutation in the interleukin-2 receptor gamma chain gene in SCIDX1 that differently affect the mRNA processing

scientific article

Diagnosis of autoimmune lymphoproliferative syndrome caused by FAS deficiency in adults

scientific article published on 14 September 2012

Distinct severity of HLH in both human and murine mutants with complete loss of cytotoxic effector PRF1, RAB27A, and STX11

scientific article published on 16 November 2012

Down‐regulation of LFA‐1‐mediated T cell adhesion induced by the HIV envelope glycoprotein gp160 requires phosphatidylinositol‐3‐kinase activity ⬇️

scientific article published on September 1, 1997

Dynamics of gene-modified progenitor cells analyzed by tracking retroviral integration sites in a human SCID-X1 gene therapy trial

scientific article

Early-onset hypogammaglobulinemia: A survey of 44 patients

scientific article published on 08 May 2015

Efficacy and safety of thalidomide in patients with inflammatory manifestations of chronic granulomatous disease: a retrospective case series

scientific article published on 20 June 2013

Efficacy of gene therapy for X-linked severe combined immunodeficiency

scientific article

Enteroviral meningoencephalitis after anti-CD20 (rituximab) treatment

scientific article

Evans Syndrome in Children: Long-Term Outcome in a Prospective French National Observational Cohort

scientific article

Evidence of innate lymphoid cell redundancy in humans

scientific article published on 12 September 2016

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

scientific article published on 27 October 2016

Expansion of regulatory T cells in patients with Langerhans cell histiocytosis

scientific article (publication date: August 2007)

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

scientific article

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

scientific article

Four new adenosine deaminase mutations, altering a zinc-binding histidine, two conserved alanines, and a 5′ splice site ⬇️

scientific article published on January 1, 1995

Function of Apollo (SNM1B) at telomere highlighted by a splice variant identified in a patient with Hoyeraal-Hreidarsson syndrome

scientific journal article

Gain-of-function human STAT1 mutations impair IL-17 immunity and underlie chronic mucocutaneous candidiasis

scientific article

Gene therapy for immunodeficiency diseases

scientific article published in October 2004

Gene therapy for inherited immunodeficiency

scientific article

Gene therapy for primary adaptive immune deficiencies

scientific article published on June 2011

Gene therapy for primary immunodeficiencies

scientific article published on May 2010

Gene therapy for primary immunodeficiencies.

scientific article

Gene therapy for primary immunodeficiencies: Part 1.

scientific article published on 12 September 2012

Gene therapy for severe combined immunodeficiencies and beyond

scientific article published on 01 January 2020

Gene therapy for severe combined immunodeficiency

scientific article

Gene therapy for severe combined immunodeficiency: are we there yet?

scientific article

Gene therapy of X-linked severe combined immunodeficiency

scientific article

Gene therapy of human severe combined immunodeficiency (SCID)-X1 disease

scientific article (publication date: 28 April 2000)

Gene therapy of inherited diseases

scientific article published on June 2008

Gene therapy of metabolic diseases

scientific article published on April 2006

Gene therapy of primary T cell immunodeficiencies

scientific article published on 10 April 2013

Gene therapy: X-SCID transgene leukaemogenicity

scientific article

Genetic defects affecting lymphocyte cytotoxicity

scientific article published on 12 April 2007

Griscelli syndrome restricted to hypopigmentation results from a melanophilin defect (GS3) or a MYO5A F-exon deletion (GS1)

scientific article

Griscelli syndrome restricted to hypopigmentation results from a melanophilin defect (GS3) or a MYO5A F-exon deletion (GS1).

scientific article

Griscelli syndrome types 1 and 2.

scientific article published on November 2002

Haematopoietic stem cell transplantation for SCID patients: where do we stand?

scientific article

Haematopoietic stem cell transplantation for refractory Langerhans cell histiocytosis: outcome by intensity of conditioning

scientific article published on 27 March 2015

Hematologically important mutations: leukocyte adhesion deficiency (first update).

scientific article

Hematopoietic stem cell gene therapy with a lentiviral vector in X-linked adrenoleukodystrophy

scientific article

Hematopoietic stem cell transplantation and other management strategies for MHC class II deficiency

scientific article published on May 2010

Hematopoietic stem cell transplantation for severe combined immunodeficiency diseases

scientific article published on January 2008

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

scientific article

Hodgkin lymphoma in 2 children with chronic granulomatous disease

scientific article

Human PMS2 deficiency is associated with impaired immunoglobulin class switch recombination

scientific article published on 29 September 2008

Human RTEL1 deficiency causes Hoyeraal-Hreidarsson syndrome with short telomeres and genome instability

scientific article

Human TCR alpha/beta+ CD4-CD8- double-negative T cells in patients with autoimmune lymphoproliferative syndrome express restricted Vbeta TCR diversity and are clonally related to CD8+ T cells

scientific article published on July 2008

Human adenylate kinase 2 deficiency causes a profound hematopoietic defect associated with sensorineural deafness

scientific article

Human iNKT and MAIT cells exhibit a PLZF-dependent proapoptotic propensity that is counterbalanced by XIAP

scientific article published on 06 December 2012

Human models of inherited immunoglobulin class switch recombination and somatic hypermutation defects (hyper-IgM syndromes).

scientific article published on January 2004

Human primary immunodeficiency diseases

scientific article published on December 2007

Human primary immunodeficiency diseases: a perspective

scientific article published on January 2004

Hyper-IgM syndrome type 4 with a B lymphocyte-intrinsic selective deficiency in Ig class-switch recombination ⬇️

scientific article

Hyper-IgM syndromes

scientific article published on July 2006

Hyper-immunoglobulin M syndromes caused by intrinsic B-lymphocyte defects

scientific article

Hyper-immunoglobulin-M syndromes caused by an intrinsic B cell defect

scientific article published on December 2003

Identification of mutations in two major mRNA isoforms of the Chediak- Higashi syndrome gene in human and mouse ⬇️

scientific article published on July 1, 1997

Immune deficiency-related enteropathy-lymphocytopenia-alopecia syndrome results from tetratricopeptide repeat domain 7A deficiency

scientific article

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

scientific article published on 18 September 2009

Immunodeficiency due to mutations in ORAI1 and STIM1.

scientific article published on March 2010

Impaired induction of DNA lesions during immunoglobulin class-switch recombination in humans influences end-joining repair

scientific article

Improving immune reconstitution while preventing graft-versus-host disease in allogeneic stem cell transplantation

scientific article

Incidence, presentation, and prognosis of malignancies in ataxia-telangiectasia: a report from the French national registry of primary immune deficiencies

scientific article published on 08 December 2014

Independent mutations of the human CD3-epsilon gene resulting in a T cell receptor/CD3 complex immunodeficiency

scientific article

Inherited CD70 deficiency in humans reveals a critical role for the CD70-CD27 pathway in immunity to Epstein-Barr virus infection

scientific article published on 23 December 2016

Inherited MST1 deficiency underlies susceptibility to EV-HPV infections

scientific article

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

scientific article

Inherited defects in lymphocyte cytotoxic activity

scientific article published on May 2010

Inhibin B and anti-Müllerian hormone as markers of gonadal function after hematopoietic cell transplantation during childhood

scientific article

Insertion sites in engrafted cells cluster within a limited repertoire of genomic areas after gammaretroviral vector gene therapy

scientific article published on 23 August 2011

Insertional oncogenesis in 4 patients after retrovirus-mediated gene therapy of SCID-X1

scientific article

Integration of retroviruses: a fine balance between efficiency and danger

scientific article

Interferon-gamma-receptor deficiency in an infant with fatal bacille Calmette-Guérin infection

scientific article

Interleukin-12 receptor beta1 deficiency in a patient with abdominal tuberculosis

scientific article (publication date: 15 July 2001)

Interleukin-7 receptor alpha (IL-7Ralpha) deficiency: cellular and molecular bases. Analysis of clinical, immunological, and molecular features in 16 novel patients

scientific article

Intestinal dysbiosis in Inflammatory Bowel Disease associated with primary immunodeficiency

scientific article published on 10 October 2018

Invasive mold infections in chronic granulomatous disease: a 25-year retrospective survey

scientific article published on December 2011

Is normal hematopoiesis maintained solely by long-term multipotent stem cells?

scientific article

Isolated congenital asplenia: a French nationwide retrospective survey of 20 cases

scientific article

Kinesin-1 Is a New Actor Involved in Platelet Secretion and Thrombus Stability.

scientific article published on 8 March 2018

Kinesin-1 controls mast cell degranulation and anaphylaxis through PI3K-dependent recruitment to the granular Slp3/Rab27b complex

scientific article published on October 2016

Kinesin-1 regulates antigen cross-presentation through the scission of tubulations from early endosomes in dendritic cells

scientific article published on 14 April 2020

LMO2-associated clonal T cell proliferation in two patients after gene therapy for SCID-X1

scientific article (publication date: 17 October 2003)

LRBA deficiency with autoimmunity and early onset chronic erosive polyarthritis

scientific article

LYST Controls the Biogenesis of the Endosomal Compartment Required for Secretory Lysosome Function

scientific article published on 06 January 2015

Long-term outcome and lineage-specific chimerism in 194 patients with Wiskott-Aldrich syndrome treated by hematopoietic cell transplantation in the period 1980-2009: an international collaborative study

scientific article

Long-term safety and efficacy of lentiviral hematopoietic stem/progenitor cell gene therapy for Wiskott-Aldrich syndrome

scientific article published on 24 January 2022

Loss of ARHGEF1 causes a human primary antibody deficiency

scientific article published on 04 February 2019

Loss of p19Arf in a Rag1(-/-) B-cell precursor population initiates acute B-lymphoblastic leukemia

scientific article

Low penetrance, broad resistance, and favorable outcome of interleukin 12 receptor beta1 deficiency: medical and immunological implications

scientific article

MHC class II deficiency: a disease of gene regulation

scientific article

MST1 mutations in autosomal recessive primary immunodeficiency characterized by defective naive T-cell survival

scientific article published on 14 December 2011

Major histocompatibility complex class II expression deficiency caused by a RFXANK founder mutation: a survey of 35 patients

scientific article

Mild B-cell lymphocytosis in patients with a CARD11 C49Y mutation

scientific article

Molecular Events Associated with CD4-mediated Down-regulation of LFA-1-dependent Adhesion ⬇️

scientific article published on November 2, 2001

Molecular mechanisms of biogenesis and exocytosis of cytotoxic granules

scientific article published on 16 July 2010

Multicenter survey on the outcome of transplantation of hematopoietic cells in patients with the complete form of DiGeorge anomaly

scientific article published on 7 June 2010

Multicentric Castleman disease in an HHV8-infected child born to consanguineous parents with systematic review

scientific article published on 12 December 2011

Munc18-2 deficiency causes familial hemophagocytic lymphohistiocytosis type 5 and impairs cytotoxic granule exocytosis in patient NK cells

scientific article

Mutation of RFXAP, a Regulator of MHC Class II Genes, in Primary MHC Class II Deficiency ⬇️

scientific article published on September 11, 1997

Mutations in STAT3 and IL12RB1 impair the development of human IL-17-producing T cells

scientific article published on July 2008

Mutations in activation-induced cytidine deaminase in patients with hyper IgM syndrome

scientific article (publication date: December 2000)

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

scientific article published on 20 April 2017

Neutralization of IFNgamma defeats haemophagocytosis in LCMV-infected perforin- and Rab27a-deficient mice

scientific article

New insights into childhood autoimmune hemolytic anemia: a French national observational study of 265 children

scientific article

New mechanism of X-linked anhidrotic ectodermal dysplasia with immunodeficiency: impairment of ubiquitin binding despite normal folding of NEMO protein

scientific article published on 26 May 2011

Novel mutations in the RFXANK gene: RFX complex containing in-vitro-generated RFXANK mutant binds the promoter without transactivating MHC II.

scientific article

ORAI1 deficiency and lack of store-operated Ca2+ entry cause immunodeficiency, myopathy, and ectodermal dysplasia

scientific article

Occurrence of B-cell lymphomas in patients with activated phosphoinositide 3-kinase δ syndrome

scientific article

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

scientific article

Outcomes following gene therapy in patients with severe Wiskott-Aldrich syndrome

scientific article published on April 2015

Outcomes of transplantation using various hematopoietic cell sources in children with Hurler syndrome after myeloablative conditioning

scientific article

Partial T and B lymphocyte immunodeficiency and predisposition to lymphoma in patients with hypomorphic mutations in Artemis

scientific article

Pathophysiology of B-cell intrinsic immunoglobulin class switch recombination deficiencies

scientific article published on January 2007

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

scientific article published on 9 January 2018

Phosphoinositide 3-kinase δ gene mutation predisposes to respiratory infection and airway damage

scientific article

Phosphorylation of Artemis following irradiation-induced DNA damage

scientific article

Polygenic mutations in the cytotoxicity pathway increase susceptibility to develop HLH immunopathology in mice

scientific article

Polymerase ε1 mutation in a human syndrome with facial dysmorphism, immunodeficiency, livedo, and short stature ("FILS syndrome")

scientific article

Primary antibody deficiencies

scientific article published on 14 June 2013

Primary hemophagocytic syndromes point to a direct link between lymphocyte cytotoxicity and homeostasis

scientific article

Primary immune deficiencies: practical questions

scientific article published on July 2013

Primary immunodeficiencies: 2009 update

scientific article

Primary immunodeficiency diseases: an experimental model for molecular medicine

scientific article

Primary immunodeficiency diseases: an update

scientific article published in September 2004

Primary immunodeficiency diseases: an update from the International Union of Immunological Societies Primary Immunodeficiency Diseases Classification Committee

scientific article

Primary immunodeficiency diseases: an update from the International Union of Immunological Societies Primary Immunodeficiency Diseases Classification Committee Meeting in Budapest, 2005

scientific article (publication date: April 2006)

Primary immunodeficiency diseases: an update on the classification from the international union of immunological societies expert committee for primary immunodeficiency

scientific article published on 8 November 2011

Primary microcephaly, impaired DNA replication, and genomic instability caused by compound heterozygous ATR mutations

scientific article

Protein truncation test of LYST reveals heterogenous mutations in patients with Chediak-Higashi syndrome

scientific article

RANK-dependent autosomal recessive osteopetrosis: characterization of five new cases with novel mutations

scientific article published in February 2012

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

scientific article published in March 2014

Real-time definition of non-randomness in the distribution of genomic events

scientific article

Regulation of natural cytotoxicity by the adaptor SAP and the Src-related kinase Fyn.

scientific article

Restoration of human B-cell differentiation into NOD-SCID mice engrafted with gene-corrected CD34+ cells isolated from Artemis or RAG1-deficient patients

scientific article published on 27 November 2007

Reticular dysgenesis: international survey on clinical presentation, transplantation, and outcome

scientific article

Revised classification of histiocytoses and neoplasms of the macrophage-dendritic cell lineages

scientific article published on 10 March 2016

Revisiting human IL-12Rβ1 deficiency: a survey of 141 patients from 30 countries

scientific article

Role of calcineurin-dependent drugs on the immunosuppressive effect induced by the anti-LFA-1 antibody in a fetal intestinal transplantation model in mice

scientific article (publication date: November 1999)

SCID patients with ARTEMIS vs RAG deficiencies following HCT: increased risk of late toxicity in ARTEMIS-deficient SCID.

scientific article published on 21 October 2013

STIM1 mutation associated with a syndrome of immunodeficiency and autoimmunity

scientific article

Sam68 association with p120GAP in CD4+ T cells is dependent on CD4 molecule expression ⬇️

scientific article published on September 15, 1998

Secretory cytotoxic granule maturation and exocytosis require the effector protein hMunc13-4

scientific article

Severe and progressive encephalitis as a presenting manifestation of a novel missense perforin mutation and impaired cytolytic activity

scientific article published on 14 December 2004

Severe combined immunodeficiencies and related disorders

scientific article

Severe combined immunodeficiency caused by deficiency in either the delta or the epsilon subunit of CD3

scientific article

Severe combined immunodeficiency. A model disease for molecular immunology and therapy

scientific article

Severe food allergy as a variant of IPEX syndrome caused by a deletion in a noncoding region of the FOXP3 gene

scientific article

Somatic hypermutation shapes the antibody repertoire of memory B cells in humans

scientific article

Stem cell transplantation for primary immunodeficiencies: the European experience

scientific article

Structural analysis of low TCR-CD3 complex expression in T cells of an immunodeficient patient ⬇️

scientific article published on January 5, 1992

Sustained correction of X-linked severe combined immunodeficiency by ex vivo gene therapy

scientific article (publication date: 18 April 2002)

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

scientific article

TTC7A mutations disrupt intestinal epithelial apicobasal polarity

scientific article

Temporal and spatial compartmentalization of drug-resistant cytomegalovirus (CMV) in a child with CMV meningoencephalitis: implications for sampling in molecular diagnosis

scientific article published on 09 October 2013

Terminal transport of lytic granules to the immune synapse is mediated by the kinesin-1/Slp3/Rab27a complex

scientific article published on 3 February 2012

The C-terminal domain of Cernunnos/XLF is dispensable for DNA repair in vivo

scientific article published on 22 December 2008

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

scientific article

The European rare diseases therapeutic initiative

scientific article

The V(D)J recombination/DNA repair factor artemis belongs to the metallo-beta-lactamase family and constitutes a critical developmental checkpoint of the lymphoid system

scientific article

The mechanisms of immune diversification and their disorders

scientific article published on December 2003

Transfusion independence and HMGA2 activation after gene therapy of human β-thalassaemia

scientific article

Treatment of chronic granulomatous disease with myeloablative conditioning and an unmodified hemopoietic allograft: a survey of the European experience, 1985-2000.

scientific article

Tubulopathy and pancytopaenia with normal pancreatic function: a variant of Pearson syndrome

scientific article

Vector integration is nonrandom and clustered and influences the fate of lymphopoiesis in SCID-X1 gene therapy

scientific article published in August 2007

Whole-exome sequencing identifies Coronin-1A deficiency in 3 siblings with immunodeficiency and EBV-associated B-cell lymphoproliferation

scientific article published on 21 March 2013

X-linked lymphoproliferative disease due to SAP/SH2D1A deficiency: a multicenter study on the manifestations, management and outcome of the disease

scientific article

X-linked primary immunodeficiency associated with hemizygous mutations in the moesin (MSN) gene

scientific journal article

X-linked thrombocytopenia (XLT) due to WAS mutations: clinical characteristics, long-term outcome, and treatment options

scientific article

X-linked thrombocytopenia and Wiskott-Aldrich syndrome: similar regional assignment but distinct X-inactivation pattern in carriers

scientific article

XIAP deficiency in humans causes an X-linked lymphoproliferative syndrome

scientific article

ZAP70: a master regulator of adaptive immunity

scientific article

[Defect in lytic granule exocytosis: several causes, a same effect]

scientific article published on 01 August 2006

gp160 of HIV or anti-CD4 monoclonal antibody ligation of CD4 induces inhibition of JNK and ERK-2 activities in human peripheral CD4+ T lymphocytes

scientific article

Paulina is supported by:

About Paulina

Help