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List of works by Anne Durandy

6th International Immunoglobulin Symposium: poster presentations

scientific article

A defect in the regulation of major histocompatibility complex class II gene expression in human HLA-DR negative lymphocytes from patients with combined immunodeficiency syndrome

scientific article

A homozygous PMS2 founder mutation with an attenuated constitutional mismatch repair deficiency phenotype

scientific article published on 17 February 2015

A human immunodeficiency caused by mutations in the PIK3R1 gene

scientific article

A human immunodeficiency caused by mutations in the PIK3R1 gene

article

A novel form of non-X-linked hyperigm associated with growth and pubertal disturbances and with lymphoma development

scientific article published in March 2006

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

scientific article

A regulatory role for the cohesin loader NIPBL in nonhomologous end joining during immunoglobulin class switch recombination

scientific article published on 21 October 2013

A retrospective single-center study of clinical presentation and outcome in 117 patients with severe combined immunodeficiency

A severe form of abetalipoproteinemia caused by new splicing mutations of microsomal triglyceride transfer protein (MTTP).

scientific article

A syndrome associating partial albinism and immunodeficiency

scientific article

A syndrome involving intrauterine growth retardation, microcephaly, cerebellar hypoplasia, B lymphocyte deficiency, and progressive pancytopenia

scientific article published on March 2000

AID mutant analyses indicate requirement for class-switch-specific cofactors

scientific article published on 10 August 2003

ANTENATAL DIAGNOSIS OF SEVERE COMBINED IMMUNODEFICIENCY FROM FETAL CORD BLOOD

scientific article published in The Lancet

Abnormal CD40-mediated activation pathway in B lymphocytes from patients with hyper-IgM syndrome and normal CD40 ligand expression

scientific article published on 01 March 1997

Activated PI3-kinase δ Syndrome: Long-term Follow-up after Cord Blood Transplantation

scientific article published on 13 June 2016

Activation induced deaminase C-terminal domain links DNA breaks to end protection and repair during class switch recombination

scientific article published on 03 March 2014

Activation of genetically major histocompatibility complex (MHC) class II-deficient B lymphocytes

scientific article published on March 1989

Activation of the Janus kinase 3-STAT5a pathway after CD40 triggering of human monocytes but not of resting B cells

scientific article published on 01 July 1999

Activation-Induced Cytidine Deaminase Expression in Human B Cell Precursors Is Essential for Central B Cell Tolerance

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 (AID) is required for B-cell tolerance in humans

scientific article

Activation-induced cytidine deaminase: a dual role in class-switch recombination and somatic hypermutation

scientific article (publication date: August 2003)

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

scientific article published on December 2006

Active suppression of B lymphocyte maturation by two different newborn T lymphocyte subsets

scientific article

Allogeneic bone marrow transplantation for erythrophagocytic lymphohistiocytosis

scientific article published on 01 February 1986

Amino-acid change in the Epstein-Barr-virus ZEBRA protein in undifferentiated nasopharyngeal carcinomas from Europe and North Africa

scientific article published on February 1998

An effective human leukaemic cell line: Reh

scientific article published on April 1, 1977

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

scientific article

Analysis of class switch recombination and somatic hypermutation in patients affected with autosomal dominant hyper-IgM syndrome type 2.

scientific article published in June 2005

Analysis of somatic hypermutations in the IgM switch region in human B cells

scientific article published on 15 May 2014

Analysis of the membrane glycoproteins of platelets in the Wiskott-Aldrich syndrome

scientific article published on 01 August 1988

Anti-B cell and anti-cytokine therapy for the treatment of post-transplant lymphoproliferative disorder: past, present, and future.

scientific article published in June 2001

Anti-B-cell monoclonal antibody treatment of severe posttransplant B-lymphoproliferative disorder: prognostic factors and long-term outcome.

scientific article

Anti-CD3 antibody-induced lymphocyte proliferation: a new tool for the prenatal diagnosis of some inherited immune deficiencies

scientific article published on 01 January 1991

Ataxia-telangiectasia in twins presenting as autosomal recessive hyper-immunoglobulin M syndrome

scientific article published on 01 May 2007

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

Blood CD4+CD45RO+CXCR5+ T cells are decreased but partially functional in signal transducer and activator of transcription 3 deficiency

scientific article

Bone-marrow transplantation for inborn error of phagocytic cells associated with defective adherence, chemotaxis, and oxidative response during opsonised particle phagocytosis

scientific article published in August 1983

CD40 ligand expression deficiency in a female carrier of the X-linked hyper-IgM syndrome as a result of X chromosome lyonization

scientific article published on 01 January 1999

Carrier detection and prenatal diagnosis of X-linked agammaglobulinemia

scientific article published on 01 July 1992

Cellular Immune Deficiency in Two Siblings with Hereditary Orotic Aciduria

scientific article published on 01 March 1983

Cernunnos influences human immunoglobulin class switch recombination and may be associated with B cell lymphomagenesis

scientific article

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

scientific article

Characterization of Ig gene somatic hypermutation in the absence of activation-induced cytidine deaminase

scientific article published on July 2008

Characterization of immunoglobulin mutations in humans with activation-induced cytidine deaminase deficiency.

scientific article published on 19 October 2007

Chimerism following fetal liver transplantation: cell cooperation despite HLA mismatch

scientific article published on 01 January 1983

Circulating immune complexes containing rubella antigens in late-onset rubella syndrome

scientific article published on 01 September 1980

Class Switch Recombination Process in Ataxia Telangiectasia Patients with Elevated Serum Levels of IgM

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

scientific article published on 21 April 2016

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

scientific article published on 16 July 2016

Clinical, Immunological, and Functional Characterization of Six Patients with Very High IgM Levels

scientific article published on 17 March 2020

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

scientific article

Combined immunodeficiency with abnormal expression of MHC class II genes

scientific article published on January 1989

Combined immunodeficiency with defective expression of HLA: modulation of an abnormal HLA synthesis and functional studies

Connection between induction of DNA lesions and DNA recombination/repair during Ig class switch recombination

scientific article published on 11 March 2011

Control of human B cell tumor growth in SCID mice by monoclonal anti-B cell antibodies

scientific article published on 01 January 1993

Control of human B cell tumor growth in severe combined immunodeficiency mice by monoclonal anti-B cell antibodies

scientific article published in September 1992

Corrigendum to “Clinical, immunologic and genetic analysis of 29 patients with autosomal recessive hyper-IgM syndrome due to Activation-Induced Cytidine Deaminase deficiency” [Clin. Immunol. 110 (2004) 22–29]

scholarly article published in Clinical Immunology

Decreased somatic hypermutation induces an impaired peripheral B cell tolerance checkpoint

scientific article published on 04 October 2016

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

scientific article published on 26 June 2014

Defective monocyte functions in a child with fatal disseminated BCG infection

scientific article

Defects of class-switch recombination

scientific article

Deficiency of the adhesive protein complex lymphocyte function antigen 1, complement receptor type 3, glycoprotein p150,95 in a girl with recurrent bacterial infections. Effects on phagocytic cells and lymphocyte functions

scientific article

Defined blocks in terminal plasma cell differentiation of common variable immunodeficiency patients

scientific article published in October 2005

Development of specific immunity in prenatal life

scientific article published in September 2001

Direct activation of human B lymphocytes by Candida albicans-derived mannan antigen.

scientific article published in September 1989

Dysfunctions of pokeweed mitogen-stimulated T and B lymphocyte responses induced by gammaglobulin therapy

scientific article published on March 1981

Déficit de l’immunité antivirale : EBV, CMV, adénovirus

scientific article published on 01 October 1997

Early prenatal diagnosis of inherited severe immunodeficiencies linked to enzyme deficiencies

scientific article published on 01 October 1987

Early-onset hypogammaglobulinemia: A survey of 44 patients

scientific article published on 08 May 2015

Efficacy of gene therapy for X-linked severe combined immunodeficiency

scientific article

Electrophoretic characteristics and membrane receptors of lymphocytes in primary immunodeficiency diseases

scientific article

Enhanced plasminogen-activator production by leukocytes in the human and murine Chediak-Higashi syndrome

scientific article

Enhancement by interferon of membrane HLA antigens in patients with combined immunodeficiency with defective HLA expression

scientific article published on April 1983

Epidermal langerhans' cells in children with primary t-cell immune deficiencies

scientific article published on 01 September 1997

First report of the Hyper-IgM syndrome Registry of the Latin American Society for Immunodeficiencies: novel mutations, unique infections, and outcomes

scientific article published on 9 January 2014

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

scientific journal article

Gastric adenocarcinoma in a patient with X-linked agammaglobulinaemia

scientific article published on 01 September 2000

Genetically acquired class-switch recombination defects: the multi-faced hyper-IgM syndrome

scientific article

Genotyping with DNA probes in combined immunodeficiency syndrome with defective expression of HLA.

scientific article published in May 1985

HLA class II restriction governing cell cooperation between antigen-specific helper T lymphocytes, B lymphocytes and monocytes for in vitro antibody production to influenza virus

scientific article

HLA-haploidentical bone marrow transplantation for severe combined immunodeficiency using E rosette fractionation and cyclosporine.

scientific article published in February 1986

HYPER-IgM SYNDROME ASSOCIATED WITH RHEUMATOID ARTHRITLS: REPORT OF RA IN A PATIENT WITH PRIMARY IMPAIRED CD 40 PATHWAY

scientific article published on 01 March 1996

Hematopoiesis in the human yolk sac: quantitation of erythroid and granulopoietic progenitors between 3.5 and 8 weeks of development

article

Hematopoietic Stem Cell Transplantation for Progressive Combined Immunodeficiency and Lymphoproliferation in Activated PI3K <delta> Syndrome Type 1.

scientific article

Hereditary orotic aciduria: a defect of pyrimidine metabolism with cellular immunodeficiency

scientific article published on 01 January 1983

Heterogeneity of immunologic and enzymatic deficiencies in the familial reticuloendotheliosis syndrome

Human ICOS deficiency abrogates the germinal center reaction and provides a monogenic model for common variable immunodeficiency

scientific article published on 29 December 2005

Human MSH6 deficiency is associated with impaired antibody maturation

scientific article published on 16 January 2012

Human PMS2 deficiency is associated with impaired immunoglobulin class switch recombination

scientific article published on 29 September 2008

Human TRAF3 adaptor molecule deficiency leads to impaired Toll-like receptor 3 response and susceptibility to herpes simplex encephalitis

scientific article

Human X-linked variable immunodeficiency caused by a hypomorphic mutation in XIAP in association with a rare polymorphism in CD40LG

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

scientific article published on January 2004

Human uracil-DNA glycosylase deficiency associated with profoundly impaired immunoglobulin class-switch recombination

scientific article published on 7 September 2003

Hyper-IgM syndrome

scientific article published on March 1994

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 syndrome type 3 with normal CD40 cell surface expression

scientific article published in July 2012

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

ICOS deficiency is associated with a severe reduction of CXCR5+CD4 germinal center Th cells

scientific article published in October 2006

IL-21 signalling via STAT3 primes human naive B cells to respond to IL-2 to enhance their differentiation into plasmablasts.

scientific article published on 24 October 2013

Idiotypy of human anti-Candida albicans antibodies: recurrence, presence of a cross-reactive autoanti-idiotypic-like activity, and role in the induction of specific in vitro antibody response

Immunoglobulin class switch recombination deficiencies.

scientific article published on 18 February 2010

Immunoglobulin class switch recombination: study through human natural mutants

scientific article published on March 2009

Immunoglobulin class-switch recombination deficiencies

scientific article published on 30 July 2012

Immunoglobulin replacement therapy in primary antibody deficiency diseases--maximizing success

scientific article

Immunological dysregulation after bone-marrow transplantation in patients with severe combined immunodeficiency

scientific article published on January 1978

Immunosuppressive properties of synthetic peptides derived from CD4 and HLA-DR antigens

scientific article published in November 1988

Impaired T8 lymphocyte-mediated suppressive activity in patients with partial Di George syndrome

scientific article published on 01 May 1986

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

scientific article

Impairment of mycobacterial immunity in human interleukin-12 receptor deficiency

scientific article

Inability of newborns' or pregnant women's monocytes to suppress pokeweed mitogen-induced responses

article

Increased activation of PI3 kinase-δ predisposes to B-cell lymphoma

scientific article published on 01 February 2020

Induction by anti-CD40 antibody or soluble CD40 ligand and cytokines of IgG, IgA and IgE production by B cells from patients with X-linked hyper IgM syndrome

scientific article published on 01 September 1993

Inherited Defects of Immunoglobulin Class Switch Recombination

scientific article published on January 1, 2010

Inherited interleukin 12 deficiency in a child with bacille Calmette-Guérin and Salmonella enteritidis disseminated infection

scientific article published on December 1998

Insights into the B cell specific process of immunoglobulin class switch recombination

scientific article published on 13 February 2011

Intravenous immunoglobulins--understanding properties and mechanisms

scientific article published on December 2009

Isolated growth hormone deficiency in a patient with immunoglobulin class switch recombination deficiency

scientific article published on 01 January 2009

Lack of prostaglandin E2-mediated monocyte suppressive activity in newborn and mothers

Late-onset combined immune deficiency associated to skin granuloma due to heterozygous compound mutations in RAG1 gene in a 14 years old male

scientific article published on 17 October 2012

Locus Suicide Recombination actively occurs on the functionally rearranged IgH allele in B-cells from inflamed human lymphoid tissues

Locus suicide recombination actively occurs on the functionally rearranged IgH allele in B-cells from inflamed human lymphoid tissues

scientific article published on 14 June 2019

Mannan-specific and mannan-induced T-cell suppressive activity in patients with chronic mucocutaneous candidiasis

scientific article published on 01 September 1987

Memory switched B cell percentage and not serum immunoglobulin concentration is associated with clinical complications in children and adults with specific antibody deficiency and common variable immunodeficiency

scientific article

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

scientific article

Molecular genetic analysis of Hungarian patients with the hyper-immunoglobulin M syndrome

scientific article published on 05 June 2007

Mutational, functional, and expression studies of the TCF4 gene in Pitt-Hopkins syndrome

scientific article (publication date: April 2009)

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

Mutations ofCD40gene cause an autosomal recessive form of immunodeficiency with hyper IgM

scientific article published on October 23, 2001

Naive and memory human B cells have distinct requirements for STAT3 activation to differentiate into antibody-secreting plasma cells.

scientific article

Normal CD40-mediated activation of monocytes and dendritic cells from patients with hyper-IgM syndrome due to a CD40 pathway defect in B cells

scholarly article by Patrick Revy et al published November 1998 in European Journal of Immunology

Normal CD40-mediated activation of monocytes and dendritic cells from patients with hyper-IgM syndrome due to a CD40 pathway defect in B cells

scientific article published on 01 November 1998

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

scientific article

Partial albinism with immunodeficiency (Griscelli syndrome)

scientific article published on 01 December 1994

Pathophysiology of B-cell intrinsic immunoglobulin class switch recombination deficiencies

scientific article published on January 2007

Phenotypic and functional characteristics of human newborns' B lymphocytes.

scientific article published on January 1990

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

scientific article

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

scientific article

Possible T4-HLA class II interaction as an essential event in antigen-specific helper T lymphocyte-dependent B cell activation

scientific article published in September 1986

Potential roles of activation-induced cytidine deaminase in promotion or prevention of autoimmunity in humans

scientific article

Predominantly Antibody Deficiency

Prenatal diagnosis of chronic granulomatous disease (CGD) in four high risk male fetuses

scientific article published on 01 May 1987

Prenatal diagnosis of severe and hereditary immune deficiencies

scientific article published in June 1989

Prenatal diagnosis of severe combined immunodeficiency

scientific article published on 01 December 1982

Prenatal diagnosis of severe combined immunodeficiency and X-linked agammaglobulinemia

scientific article published on 01 January 1983

Prenatal diagnosis of severe combined immunodeficiency with defective synthesis of HLA molecules

scientific article published on 01 January 1987

Prenatal diagnosis of severe hereditary immunologic deficiencies

scientific article

Prenatal diagnosis of syndromes associating albinism and immune deficiencies (Chediak-Higashi syndrome and variant)

scientific article published on 01 January 1993

Prenatal testing for inherited immune deficiencies by fetal blood sampling

scientific article published on 01 April 1982

Primary antibody deficiencies

scientific article published on 14 June 2013

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

scientific article

Protective effect of IgM against colonization of the respiratory tract by nontypeable Haemophilus influenzae in patients with hypogammaglobulinemia

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

scientific article published in February 2012

Recombinant soluble trimeric CD40 ligand is biologically active

scientific article published on March 1995

Repair of U/G and U/A in DNA by UNG2-associated repair complexes takes place predominantly by short-patch repair both in proliferating and growth-arrested cells

scientific article published on 12 October 2004

Respective Roles and Interactions of T Lymphocyte and PGE2-Mediated Monocyte Suppressive Activities in Human Newborns and Mothers at the Time of Delivery

scientific article published on 01 June 1982

Responses of T and B lymphocytes to a Paracoccidioides brasiliensis cell wall extract in healthy sensitized and nonsensitized subjects

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

Restriction of the in vitro anti-mannan antibody response by HLA-DQ molecules

scientific article published on 01 May 1986

Retinoids regulate survival and antigen presentation by immature dendritic cells

scientific article

Reversal of natural killer defect in a patient with Chédiak-Higashi syndrome after bone-marrow transplantation

scientific article published on 01 April 1982

Role of IL-6 in promoting growth of human EBV-induced B-cell tumors in severe combined immunodeficient mice.

scientific article published on June 1994

Role of prostaglandin E2 in the induction of nonspecific T lymphocyte suppressor activity

article by A Fischer et al published April 1981 in Journal of Immunology

Role of the LFA-1 molecule in cellular interactions required for antibody production in humans.

scientific article published in May 1986

Selective IgG subclass deficiencies and antibody responses to pneumococcal capsular polysaccharide antigen in adult community-acquired pneumonia

scientific article published in October 1990

Selective defect of precursor T cells associated with apparently normal B lymphocytes in severe combined immunodeficiency disease

scientific article published on September 1978

Sensitivity of Epstein-Barr virus-induced B cell tumor to apoptosis mediated by anti-CD95/Apo-1/fas antibody

scientific article published in February 1997

Separation of a population of human T lymphocytes that bind prostaglandin E2 and exert a suppressor activity

Separation of precursor T cells and Ig-secreting B cells from the large lymphocytic cells of human tonsil

scientific article published on October 1977

Severe acute paracoccidioidomycosis in children.

scientific article published on June 1994

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

scientific article

Severe combined immunodeficiency with quantitatively normal but abnormally differentiated T lymphocytes

scientific article published on 01 August 1981

Severe combined immunodeficiency: a retrospective single-center study of clinical presentation and outcome in 117 patients

scientific article published in October 1993

Signal transducer and activator of transcription 3 (STAT3) mutations underlying autosomal dominant hyper-IgE syndrome impair human CD8(+) T-cell memory formation and function.

scientific article published on 04 July 2013

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

scientific article

Specific binding of antigen onto human T lymphocytes

scientific article

Specific in vitro anti-mannan antibody production by human blood lymphocytes

article

Specific in vitro antimannan-rich antigen of Candida albicans antibody production by sensitized human blood lymphocytes

scientific article published on June 1983

Spontaneous IgM autoantibody production in vitro by B lymphocytes of normal human neonates

scientific article published in June 1992

Study of patients with Hyper-IgM type IV phenotype who recovered spontaneously during late childhood and review of the literature

scientific article published on 28 January 2011

T cell clones from an X-linked hyper-immunoglobulin (IgM) patient induce IgE synthesis in vitro despite expression of nonfunctional CD40 ligand

scientific article

T- and B-cell chimerism in two patients with severe combined immunodeficiency (SCID) after transplantation

scientific article

T-Cell Subset Analysis by Monoclonal Antibodies in Primary Immunodeficiences

scientific article published on 01 August 1981

TGF-beta 1 prevents the noncognate maturation of human dendritic Langerhans cells

Terminal defects of B lymphocyte differentiation.

scientific article

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

scientific article

The NEMO mutation creating the most-upstream premature stop codon is hypomorphic because of a reinitiation of translation.

scientific article

The RIDDLE syndrome protein mediates a ubiquitin-dependent signaling cascade at sites of DNA damage

scientific article

The UNG2 Arg88Cys variant abrogates RPA-mediated recruitment of UNG2 to single-stranded DNA.

scientific article

The block in immunoglobulin class switch recombination caused by activation-induced cytidine deaminase deficiency occurs prior to the generation of DNA double strand breaks in switch mu region

scientific article published in September 2003

The effect of RU 41740 on the in vitro maturation of human B-cells

scientific article published on 01 January 1988

The mechanisms of immune diversification and their disorders

scientific article published on December 2003

Therapy for transplant-related lymphoproliferative diseases

scientific article published on April 1993

Therapy of transplant-related lymphoproliferative diseases

scientific article published on 01 February 1993

Transplantation of lymphoid cells in patients with severe combined immunodeficiency (SCID)

scientific article published on 01 January 1980

Transplantation of lymphoid cells in severe combined immunodeficiency (SCID) [proceedings]

scientific article published on January 1978

Treatment of B-lymphoproliferative disorder with a monoclonal anti-interleukin-6 antibody in 12 patients: a multicenter phase 1-2 clinical trial

scientific article published on 01 March 2001

Treatment of the Wiskott-Aldrich syndrome by a graft of allogeneic bone marrow

scientific article

Two years after, activation-induced cytidine deaminase has not revealed all of its secrets

scientific article published in February 2003

Undetectable CD40 ligand expression on T cells and low B cell responses to CD40 binding agonists in human newborns

article

X-linked anhidrotic ectodermal dysplasia with immunodeficiency is caused by impaired NF-kappaB signaling

scientific article (publication date: March 2001)

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

scientific journal article

X-linked susceptibility to mycobacteria is caused by mutations in NEMO impairing CD40-dependent IL-12 production

scientific article

[Immunologic study of familial lymphohistiocytosis. Eight new case reports (author's transl)]

scientific article published on 01 March 1982

[Severe combined immune deficiency with hypereosinophilia. Immunologic study of 5 cases]

scientific article published on 01 January 1985

[Therapeutic prospects and lymphoproliferative syndromes related to EBV]

scientific article published on 01 January 1997