A. Durandy

A. Fischer, A. Schulz, A. Durandy, 2011, Journal of bone and mineral research : the official journal of the American Society for Bone and Mineral Research.

Carrier detection and prenatal diagnosis of X-linked agammaglobulinemia.

C. Griscelli, A. Durandy, F. Le Deist, 1992, American journal of medical genetics.

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

C. Griscelli, A. Durandy, G. de Saint Basile, 1985, Blood.

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

A. Fischer, M. Forveille, A. Durandy, 1995, Journal of immunology.

Rapid Publication Atriopeptin III A Potent Natriuretic, Diuretic, and Hypotensive Agent in Rats with Chronic Renal Failure

C. Griscelli, A. Durandy, D. Charron, 2022 .

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

Michael J. McGuffin, S. Gruber, W. Foulkes, 2015, Journal of Medical Genetics.

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

A. Fischer, C. Griscelli, A. Durandy, 1986, Journal of immunology.

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

C. Griscelli, A. Durandy, J. Ballet, 1978, The Journal of pediatrics.

Defective monocyte functions in a child with fatal disseminated BCG infection.

A. Fischer, C. Griscelli, A. Durandy, 1980, Clinical immunology and immunopathology.

A syndrome associating partial albinism and immunodeficiency.

C. Griscelli, A. Durandy, D. Guy‐grand, 1978, The American journal of medicine.

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

C. Griscelli, A. Durandy, D. Charron, 1986, Human immunology.

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

A. Fischer, A. Durandy, D. Charron, 1985, European journal of immunology.

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

A. Fischer, C. Picard, A. Durandy, 2017, Haematologica.

Specific binding of antigen onto human T lymphocytes.

C. Griscelli, A. Durandy, D. Charron, 1986, The Journal of clinical investigation.

Possible T4‐HLA class II interaction as an essential event in antigen‐specific helper T lymphocytedependent B cell activation

A. Fischer, A. Durandy, D. Charron, 1986, European journal of immunology.

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

A. Durandy, G. de Saint Basile, F. Le Deist, 1999, European journal of immunology.

Hyper-IgM syndrome.

A. Durandy, J. D. Di Santo, G. de Saint Basile, 1994, Research in immunology.

Combined immunodeficiency with abnormal expression of MHC class II genes.

B. Mach, C. Griscelli, A. Durandy, 1989, Clinical immunology and immunopathology.

Defect of Expression of MHC Genes Responsible for an Abnormal HLA Class I Phenotype and the Class II Negative Phenotype of Lymphocytes from Patients with Combined Immunodeficiency

B. Mach, C. Griscelli, A. Durandy, 1984 .

Therapy for transplant-related lymphoproliferative diseases.

A. Fischer, A. Durandy, M. Benkerrou, 1993, Hematology/oncology clinics of North America.

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

A. Fischer, C. Picard, A. Durandy, 2013, The Journal of allergy and clinical immunology.

Ontogeny of the Immune System

A. Durandy, E. Cooper, Edwin L. Cooper, 1981, Transfusion Medicine and Hemotherapy.

Development of the Immune System

A. Durandy, 1992, Infectious diseases in obstetrics and gynecology.

Development of the Immune System

A. Durandy, 1997, Infectious diseases in obstetrics and gynecology.

Recombinant Soluble Trimeric CD40 Ligand Is Biologically Active *

A. Durandy, A. Bernard, J. Bonnefoy, 1995, The Journal of Biological Chemistry.

Activated PI3Kinase Delta Syndrome—A Multifaceted Disease

A. Durandy, S. Kracker, N. Moreno-Corona, 2021, Frontiers in Pediatrics.

The effects of indomethacin administration during pregnancy on women's and newborns' T-suppressor lymphocyte activity and on HLA class II expression by newborns' leukocytes.

C. Griscelli, A. Durandy, C. Brami, 1985, American journal of reproductive immunology and microbiology : AJRIM.

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

A. Fischer, A. Durandy, J. Bonnefoy, 1994, The Journal of experimental medicine.

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

A. Durandy, F. Le Deist, A. Fischer, 1989, Cellular immunology.

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

C. Griscelli, A. Durandy, A. Fischer, 1987, Journal of Clinical Immunology.

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

C. Griscelli, A. Durandy, D. Guy‐grand, 1993, Prenatal diagnosis.

DNA Double Strand Breaks in Switch Deficiency Occurs Prior to the Generation of Activation-Induced Cytidine Deaminase Recombination Caused by The Block in Immunoglobulin Class Switch

P. Revy, Nadia Catalan, A. Durandy, 2003 .

T‐Cell Subset Analysis by Monoclonal Antibodies in Primary Immunodeficiences

C. Griscelli, A. Durandy, F. Phan-Dinh-Tuy, 1981, Scandinavian journal of immunology.

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

Vallabhapurapu, J. Casanova, C. Picard, 2010 .

Mannan Antigen of Candida Albicans and Cellular Immune Responses in Vitro and in Vivo

A. Fischer, C. Griscelli, A. Durandy, 1988 .

Prenatal testing for inherited immune deficiencies by fetal blood sampling

C. Griscelli, A. Durandy, R. Henrion, 1982, Prenatal diagnosis.

Severe combined immunodeficiency with B lymphocytes: a selective defect of precursor T cells

C. Griscelli, A. Durandy, F. Daguillard, 1979 .

Electrophoretic characteristics and membrane receptors of lymphocytes in primary immunodeficiency diseases.

C. Griscelli, A. Durandy, M. Wioland, 1975, Clinical immunology and immunopathology.

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

C. Griscelli, A. Durandy, A. Fischer, 1981, The Journal of clinical investigation.

Severe combined immunodeficiency with quantitatively normal but abnormally differentiated T lymphocytes.

E. Reinherz, C. Griscelli, A. Durandy, 1981, The Journal of pediatrics.

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

C. Griscelli, A. Durandy, J. Virelizier, 1983, Clinical and experimental immunology.

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

C. Griscelli, A. Durandy, S. Mamas, 1982, American journal of reproductive immunology : AJRI : official journal of the American Society for the Immunology of Reproduction and the International Coordination Committee for Immunology of Reproduction.

The Role of PGE2 in the Induction of Suppressor Cells in Humans

F. Deist, C. Griscelli, A. Durandy, 1985 .

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

C. Griscelli, M. Forveille, A. Durandy, 1989, Journal of Clinical Immunology.

Topoisomerase 2 b mutation impairs early B cell development

A. Fischer, K. Okkenhaug, C. Picard, 2020 .

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

C. Griscelli, A. Durandy, A. Fischer, 1983, The Journal of clinical investigation.

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

A. Fischer, F. Geissmann, A. Durandy, 2004, The Journal of clinical investigation.

Activation-Induced Cytidine Deaminase Hypermutation in the Absence of Characterization of Ig Gene Somatic

P. Lipsky, A. Plebani, A. Durandy, 2008 .

Cernunnos, a Novel Nonhomologous End-Joining Factor, Is Mutated in Human Immunodeficiency with Microcephaly

A. Fischer, F. Deist, A. Plebani, 2006, Cell.

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

A. Fischer, N. Brousse, A. Durandy, 1997, The Journal of pathology.

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

A. Durandy, 2001, Transplant infectious disease : an official journal of the Transplantation Society.

A homozygous PMS 2 founder mutation with an attenuated constitutional mismatch repair de fi ciency phenotype

S. Gruber, W. Foulkes, R. Hegele, 2015 .

Severe acute paracoccidioidomycosis in children

A. Durandy, A. Duarte, H. Marques, 1994, The Pediatric infectious disease journal.

Intravenous immunoglobulins – understanding properties and mechanisms

S. Miescher, A. Durandy, S. Kaveri, 2009, Clinical and experimental immunology.

Predominantly Antibody Deficiencies

V. Lougaris, A. Plebani, H. Kanegane, 2021, Reference Module in Biomedical Sciences.

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

A. Durandy, C. Lacaz, G. Benard, 1995, The American journal of tropical medicine and hygiene.

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

A. Fischer, C. Griscelli, A. Durandy, 1993, The Journal of pediatrics.

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

R. Döffinger, J. Casanova, M. Wadhwa, 1998, The Journal of clinical investigation.

Rapid A Defect in the Regulation of Major Histocompatibility Complex Class 11 Gene Expression in Human HLA-DR Negative Lymphocytes from Patients with Combined Immunodeficiency Syndrome

B. Mach, C. Griscelli, A. Durandy, 2022 .

Partial albinism with immunodeficiency (Griscelli syndrome).

C. Klein, C. Griscelli, A. Durandy, 1994, The Journal of pediatrics.

Autosomal Dominant STAT3 Deficiency and Hyper-IgE Syndrome: Molecular, Cellular, and Clinical Features From a French National Survey

A. Fischer, C. Bodemer, J. Casanova, 2012, Medicine.

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

A. Régnault, P. Revy, F. Geissmann, 1999, Journal of immunology.

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

A. Durandy, H. Eibel, L. Corcoran, 2006, The Journal of Immunology.

The Hyper IgM Syndromes – a Long List of Genes and Years of Discovery

A. Durandy, S. Kracker, 2014 .

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

A. Durandy, L. Maródi, M. Erdős, 2005, Immunology letters.

TGF-β1 Prevents the Noncognate Maturation of Human Dendritic Langerhans Cells

A. Régnault, P. Revy, F. Geissmann, 1999, The Journal of Immunology.

First Report of the Hyper-IgM Syndrome Registry of the Latin American Society for Immunodeficiencies: Novel Mutations, Unique Infections, and Outcomes

H. Ochs, T. Torgerson, A. Durandy, 2014, Journal of Clinical Immunology.

Activation-induced cytidine deaminase (AID) is required for B-cell tolerance in humans

F. Rieux-Laucat, L. Notarangelo, J. Walter, 2011, Proceedings of the National Academy of Sciences.

Cellular immune deficiency in two siblings with hereditary orotic aciduria.

C. Griscelli, A. Durandy, R. Girot, 1983, The New England journal of medicine.

Loss of ARHGEF1 causes a human primary antibody deficiency

T. Molina, A. Fischer, C. Picard, 2019, The Journal of clinical investigation.

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

Bodo Grimbacher, James Curtis, Siobhan O. Burns, 2017, The Journal of allergy and clinical immunology.

Early prenatal diagnosis of inherited severe immunodeficiencies linked to enzyme deficiencies.

C. Griscelli, A. Durandy, F. Freycon, 1987, The Journal of pediatrics.

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

A. Fischer, A. Plebani, J. Litzman, 2004, Clinical immunology.

Phosphoinositide 3-Kinase δ Gene Mutation Predisposes to Respiratory Infection and Airway Damage

Nada Jabado, James Curtis, Sergey Nejentsev, 2013, Science.

Class switch recombination defects: impact on b cell maturation and antibody responses.

J. Orange, H. Ochs, T. Torgerson, 2020, Clinical immunology.

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

Carol J. Saunders, C. Saunders, V. Gallo, 2020, Journal of clinical medicine.

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

A. Durandy, S. Kracker, 2020, Blood.

Immunoglobulin Class-Switch Recombination Defects

A. Durandy, S. Kracker, 2016 .

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

J. Casanova, J. Ziegler, Joanne M. Smart, 2013, Blood.

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

A. Fischer, T. Giese, R. Geha, 2014, The Journal of allergy and clinical immunology.

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

A. Fischer, A. Durandy, N. Liabakk, 2005, The Journal of experimental medicine.

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.

A. Durandy, N. Liabakk, M. Otterlei, 2004, Nucleic acids research.

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

A. Fischer, H. Ochs, P. Revy, 2003, Nature Immunology.

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

T. Fest, A. Durandy, M. Cogné, 2018, bioRxiv.

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

A. Durandy, N. Liabakk, M. Otterlei, 2012, DNA repair.

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

A. Durandy, S. Kracker, 2011, Immunology letters.

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

L. Notarangelo, J. Walter, W. Al-Herz, 2015, Immunity.

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

A. Fischer, T. Honjo, Nadia Catalan, 2003, Nature Immunology.

AID in Immunodeficiency and Cancer

A. Durandy, Svend K. Petersen-Mahrt, Don-Marc Franchini, 2010 .

Human MSH6 Deficiency Is Associated with Impaired Antibody Maturation

A. Fischer, M. Forveille, A. Durandy, 2012, The Journal of Immunology.

Impaired Antibody Maturation Human MSH6 Deficiency Is Associated with

M. Forveille, A. Durandy, D. Ilencikova, 2012 .

Inherited defects of immunoglobulin class switch recombination.

A. Durandy, S. Kracker, Pauline Gardës, 2010, Advances in experimental medicine and biology.

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

A. Fischer, A. Durandy, N. Taubenheim, 2006, Human mutation.

Hyper-IgM syndromes

A. Fischer, A. Durandy, Sophie Péron, 2006, Current opinion in rheumatology.

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

A. Fischer, P. Revy, A. Durandy, 2005, Immunological reviews.

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

A. Fischer, P. Revy, A. Durandy, 2004, Advances in immunology.

The mechanisms of immune diversification and their disorders

A. Fischer, A. Durandy, J. Villartay, 2003, Nature Reviews Immunology.

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 μ Region 1

A. Fischer, P. Revy, Nadia Catalan, 2003, The Journal of Immunology.

Mini‐review Activation‐induced cytidine deaminase: a dual role in class‐switch recombination and somatic hypermutation

A. Durandy, 2003, European journal of immunology.

Terminal defects of B lymphocyte differentiation

A. Durandy, 2001, Current opinion in allergy and clinical immunology.

Human genetic defects in class-switch recombination (hyper-IgM syndromes).

T. Honjo, A. Durandy, Tasuku Honjo, 2001, Current opinion in immunology.

Immunoglobulin class-switch recombination deficiencies

A. Durandy, S. Kracker, 2012, Arthritis Research & Therapy.

Immunoglobulin class switch recombination deficiencies.

A. Durandy, S. Kracker, F. Mazerolles, 2010, Clinical immunology.

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

H. Ochs, A. Durandy, K. Imai, 2010, Proceedings of the National Academy of Sciences.

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

Likun Du, Q. Pan-Hammarström, A. Durandy, 2013, The Journal of experimental medicine.

UnAIDed Class Switching in Activated B-Cells Reveals Intrinsic Features of a Self-Cleaving IgH Locus

A. Fischer, A. Durandy, M. Cogné, 2021, Frontiers in Immunology.

Class-Switch Recombination Defects

A. Durandy, S. Kracker, 2014 .

Activation-induced deaminase is critical for the establishment of DNA methylation patterns prior to the germinal center reaction

E. Ballestar, C. Plass, P. Soler-Palacín, 2019, bioRxiv.

Pathophysiology of B-cell intrinsic immunoglobulin class switch recombination deficiencies.

A. Fischer, A. Durandy, N. Taubenheim, 2007, Advances in immunology.

Defects of class-switch recombination.

L. Notarangelo, A. Durandy, G. Lanzi, 2006, The Journal of allergy and clinical immunology.

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

A. Fischer, T. Morio, P. Revy, 2005, Clinical immunology.

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

A. Fischer, P. Revy, A. Durandy, 2003, Current opinion in allergy and clinical immunology.

Somatic Hypermutation Shapes the Antibody Repertoire of Memory B Cells in Humans

Michel C. Nussenzweig, A. Fischer, M. Nussenzweig, 2001, The Journal of experimental medicine.

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

A. Fischer, C. Cunningham-Rundles, A. Durandy, 2000, Clinical immunology.

Basic and clinical immunology Current perspectives Defects of class-switch recombination

L. Notarangelo, A. Durandy, G. Lanzi, 2022 .

The RIDDLE Syndrome Protein Mediates a Ubiquitin-Dependent Signaling Cascade at Sites of DNA Damage

Edward S. Miller, D. Durocher, Nadine Kolas, 2009, Cell.

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

C. Griscelli, A. Durandy, P. Reinert, 1982, The New England journal of medicine.

De novo 13q12.3–q14.11 deletion involving BRCA2 gene in a patient with developmental delay, elevated IgM levels, transient ataxia, and cerebellar hypoplasia, mimicking an A‐T like phenotype

G. Giardino, E. Cirillo, C. Pignata, 2012, American journal of medical genetics. Part A.

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

C. Auffray, A. Fischer, A. Durandy, 1988, Cell.

Human PMS2 deficiency is associated with impaired immunoglobulin class switch recombination

A. Fischer, A. Durandy, C. Kratz, 2008, The Journal of experimental medicine.

Gastric adenocarcinoma in a patient with X-linked agammaglobulinaemia.

A. Durandy, G. de Saint Basile, F. Le Deist, 2000, European journal of gastroenterology & hepatology.

Known and potential molecules associated with altered B cell development leading to predominantly antibody deficiencies

V. Lougaris, A. Plebani, A. Durandy, 2021, Pediatric allergy and immunology : official publication of the European Society of Pediatric Allergy and Immunology.

Primary Microcephaly, Impaired DNA Replication, and Genomic Instability Caused by Compound Heterozygous ATR Mutations

A. Fischer, J. Soulier, P. Revy, 2013, Human mutation.

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

A. Fischer, F. Deist, A. Smahi, 2001, Nature Genetics.

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

A. Fischer, F. Deist, J. Jais, 1998, Blood.

Outcome B-Lymphoproliferative Disorder: Prognostic Factors and Long-Term B-Cell Monoclonal Antibody Treatment of Severe Posttransplant - Anti

J. Jais, A. Durandy, V. Leblond, 2012 .

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

A. Fischer, E. Haddad, A. Durandy, 2001, Blood.

BONE-MARROW TRANSPLANTATION FOR INBORN ERROR OF PHAGOCYTIC CELLS ASSOCIATED WITH DEFECTIVE ADHERENCE, CHEMOTAXIS, AND OXIDATIVE RESPONSE DURING OPSONISED PARTICLE PHAGOCYTOSIS

A. Fischer, C. Griscelli, A. Durandy, 1983, The Lancet.

Allogeneic bone marrow transplantation for erythrophagocytic lymphohistiocytosis.

G. Leverger, C. Griscelli, A. Durandy, 1986, The Journal of pediatrics.

Genotoxic stress increases cytoplasmic mitochondrial DNA editing by human APOBEC3 mutator enzymes at a single cell level

S. Wain-Hobson, J. Vartanian, A. Durandy, 2019, Scientific Reports.

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

Yixin Zeng, A. Gennery, Likun Du, 2012, The Journal of experimental medicine.

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

C. Bodemer, J. Casanova, A. Israël, 2006, The Journal of experimental medicine.

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

A. Smahi, R. Döffinger, J. Casanova, 2006, American journal of human genetics.

Impairment of mycobacterial immunity in human interleukin-12 receptor deficiency.

F. Deist, R. Döffinger, J. Casanova, 1998, Science.

Immune Deficiencies Caused by B Cell Defects

A. Fischer, A. Durandy, S. Kracker, 2015 .

Primary antibody deficiencies

A. Fischer, A. Durandy, S. Kracker, 2013, Nature Reviews Immunology.

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

A. Durandy, J. Boué, Y. Dumez, 1987, Prenatal diagnosis.

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

C. Griscelli, A. Durandy, N. Cerf-Bensussan, 1987, Prenatal diagnosis.

Prenatal diagnosis of severe combined immunodeficiency.

C. Griscelli, A. Durandy, R. Henrion, 1982, The Journal of pediatrics.

ANTENATAL DIAGNOSIS OF SEVERE COMBINED IMMUNODEFICIENCY FROM FETAL CORD BLOOD

C. Griscelli, A. Durandy, J. Frézal, 1982, The Lancet.

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

A. Munnich, C. Picard, N. Boddaert, 2009, Human mutation.

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

C. Griscelli, A. Durandy, F. Le Deist, 1986, Blood.

A Syndrome Involving Intrauterine Growth Retardation, Microcephaly, Cerebellar Hypoplasia, B Lymphocyte Deficiency, and Progressive Pancytopenia

A. Fischer, M. Busslinger, P. Revy, 2000, Pediatrics.

Hyper‐Immunoglobulin M Syndrome Type 3 with Normal CD40 Cell Surface Expression

M. Forveille, A. Durandy, N. Kutukculer, 2012, Scandinavian journal of immunology.

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

A. Fischer, A. Plebani, P. Revy, 2003, The Journal of clinical investigation.

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

P. Revy, F. Geissmann, A. Durandy, 1998, European journal of immunology.

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

F. Deist, C. Griscelli, A. Durandy, 1986, Journal of Clinical Immunology.

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.

C. Griscelli, A. Durandy, M. Kazatchkine, 1985, The Journal of clinical investigation.

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

J. Dausset, D. Cohen, C. Griscelli, 1985, The New England journal of medicine.

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

A. Fischer, A. Durandy, J. Stinson, 2015, The Journal of allergy and clinical immunology.

First Report of the Hyper-IgM Syndrome Registry of the Latin American Society for Immunodeficiencies: Novel Mutations, Unique Infections, and Outcomes

H. Ochs, T. Torgerson, A. Durandy, 2014, Journal of Clinical Immunology.

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

A. Durandy, M. Belevtsev, A. Migas, 2013, Human immunology.

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

M. Milili, C. Schiff, M. Forveille, 1993, European journal of immunology.

6th International Immunoglobulin Symposium: Poster presentations

E Fernandez-Cruz, S V Kaveri, H-H Peter, 2009, Clinical and experimental immunology.

Severe combined immunodeficiency caused by deficiency in either the δ or the ε subunit of CD3

A. Fischer, F. Deist, F. Geissmann, 2004 .

Severe combined immunodeficiency caused by deficiency in either the δ or the ε subunit of CD3

A. Fischer, F. Deist, F. Geissmann, 2004 .

A human immunodeficiency caused by mutations in the PIK3R1 gene.

Patrick Nitschke, Felipe Suarez, Sven Kracker, 2015, The Journal of clinical investigation.

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.

A. Durandy, N. Taubenheim, P. Arkwright, 2006, Clinical immunology.

Early-onset hypogammaglobulinemia: A survey of 44 patients.

F. Rieux-Laucat, A. Fischer, C. Picard, 2015, The Journal of allergy and clinical immunology.

Decreased somatic hypermutation induces an impaired peripheral B cell tolerance checkpoint.

M. van der Burg, L. Notarangelo, J. Walter, 2016, The Journal of clinical investigation.

A human immunodeficiency caused by mutations in the PIK3R1 gene.

Patrick Nitschke, Felipe Suarez, Sven Kracker, 2014, The Journal of clinical investigation.

Transplantation of Lymphoid Cells in Patients with Severe Combined Immunodeficiency (SCID)

C. Griscelli, A. Durandy, D. Buriot, 1980 .

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

F. Deist, C. Griscelli, A. Durandy, 1988, British journal of haematology.

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

E. Meffre, A. Durandy, T. Cantaert, 2013, Autoimmunity.

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

A. Fischer, Z. Herceg, M. Nussenzweig, 2015, The Journal of allergy and clinical immunology.

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

A. Fischer, Likun Du, Q. Pan-Hammarström, 2007, The Journal of experimental medicine.

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

M. van der Burg, J. V. van Dongen, A. Durandy, 2006, Blood.

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

A. Durandy, H. Peter, U. Salzer, 2013 .

Phenotypic and functional characteristics of human newborns' B lymphocytes.

A. Fischer, M. Forveille, A. Durandy, 1990, Journal of immunology.

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

R. Verdun, A. Durandy, J. D. Di Noia, 2014, Proceedings of the National Academy of Sciences.

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

H. Ochs, A. Durandy, Kanako Mitsui-Sekinaka, 2014, The Journal of allergy and clinical immunology.

Characterization of Ig Gene Somatic Hypermutation in the Absence of Activation-Induced Cytidine Deaminase1

P. Lipsky, A. Plebani, A. Durandy, 2008, The Journal of Immunology.

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

A. Fischer, C. Picard, É. Oksenhendler, 2012, The Journal of allergy and clinical immunology.

An effective human leukaemic cell line: Reh

A. Durandy, J. Doré, C. Desgrange, 1977 .

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

C. Griscelli, A. Durandy, J. Ballet, 1977, Cellular immunology.

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

A. Durandy, F. Labrousse, J. Chrétien, 1990, The American review of respiratory disease.

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

M. Forveille, A. Durandy, M. Peuchmaur, 1994, Journal of immunology.

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

C. Griscelli, A. Durandy, F. Le Deist, 1985, Journal of immunology.

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

A. Borkhardt, A. Durandy, A. Aghamohammadi, 2015, Journal of immunoassay & immunochemistry.

Human PMS2 deficiency is associated with impaired immunoglobulin class switch recombination

A. Fischer, A. Durandy, C. Kratz, 2008, The Journal of experimental medicine.

A neomorphic mutation in the interferon activation domain of IRF4 causes a dominant primary immunodeficiency

J. Casanova, A. Durandy, L. Galicier, 2023, The Journal of experimental medicine.

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

T. Molina, A. Fischer, S. Nejentsev, 2016 .

Hematopoietic stem cell transplantation for progressive combined immunodeficiency and lymphoproliferation in patients with activated phosphatidylinositol‐3‐OH kinase &dgr; syndrome type 1

O. Ohara, S. Ogawa, H. Kanegane, 2019, The Journal of allergy and clinical immunology.

Immunoglobulin Replacement Therapy in Primary Antibody Deficiency Diseases – Maximizing Success

V. Wahn, A. Durandy, E. Gelfand, 2005, International Archives of Allergy and Immunology.

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

A. Fischer, J. Casanova, C. Schiff, 1997, Journal of immunology.

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]

A. Plebani, J. Litzman, O. Sanal, 2004 .

Two Monogenetic Disorders, Activated PI3-Kinase-δ Syndrome 2 and Smith–Magenis Syndrome, in One Patient: Case Report and a Literature Review of Neurodevelopmental Impact in Primary Immunodeficiencies Associated With Disturbed PI3K Signaling

C. Picard, A. Durandy, M. Parisot, 2021, Frontiers in Pediatrics.

Immunoglobulin class switch recombination: study through human natural mutants

A. Durandy, 2009, Philosophical Transactions of the Royal Society B: Biological Sciences.

[Activation by injectable gamma globulins of the suppressive functions of the humoral response tested in vitro].

C. Griscelli, A. Durandy, 1983, Presse medicale.

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

C. Griscelli, A. Durandy, A. Fischer, 1979, Journal of immunology.

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

A. Durandy, M. Tardieu, B. Grospierre, 1980, The Journal of pediatrics.

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

J. Casanova, S. Choo, Joanne M. Smart, 2013, The Journal of allergy and clinical immunology.

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

A. Fischer, C. Griscelli, A. Durandy, 1993, Immunodeficiency.

Primary Immunodeficiencies: Genotype–Phenotype Correlations

M. Vihinen, A. Durandy, 2006 .

From Dysgammaglobulinemia to Autosomal-Dominant Activation-Induced Cytidine Deaminase Deficiency: Unraveling an Inherited Immunodeficiency after 50 Years.

J. Casanova, É. Oksenhendler, A. Durandy, 2020, The Journal of pediatrics.

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

C. Griscelli, A. Durandy, M. Tardieu, 1980 .

Hyper-IgM syndrome associated with rheumatoid arthritis: report of RA in a patient with primary impaired CD40 pathway.

A. Durandy, J. Sibilia, T. Schaeverbeke, 1996, British journal of rheumatology.

Spontaneous IgM Autoantibody Production In Vitro by B Lymphocytes of Normal Human Neonates

A. Fischer, S. Avrameas, M. Forveille, 1992, Scandinavian journal of immunology.

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

L. Notarangelo, A. Durandy, L. Maródi, 2008, Molecular immunology.

An effect human leukaemic cell line: Reh.

A. Durandy, G. de Thé, J. Doré, 1977, European journal of cancer.

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

A. Durandy, L. Coulombel, M. Dommergues, 1992, Bone marrow transplantation.

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

C. Griscelli, A. Durandy, F. Le Deist, 1985, Archives francaises de pediatrie.

Topoisomerase 2β mutation impairs early B cell development.

A. Fischer, K. Okkenhaug, S. Nejentsev, 2020, Blood.

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

A. Durandy, S. Kracker, 2011, Cell Cycle.

Immunoglobulin Class Switch Recombination Defects

A. Durandy, S. Kracker, 2020, Encyclopedia of Medical Immunology.

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

A. Durandy, N. Kutukculer, G. Aksu, 2011, European Journal of Pediatrics.

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

Amos Etzioni, A. Durandy, Amos Etzioni, 2007, The Israel Medical Association journal : IMAJ.

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

C. Griscelli, A. Durandy, S. Mamas, 1982, Clinical and experimental immunology.

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

C. Griscelli, A. Durandy, J. Virelizier, 1983, Birth defects original article series.

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

P. Revy, F. Geissmann, A. Durandy, 1998, European journal of immunology.

Primary antibody deficiencies

A. Fischer, A. Durandy, M. Cooper, 2013, Nature Reviews Immunology.

Hyper-IgM syndromes: a model for studying the regulation of class switch recombination and somatic hypermutation generation.

A. Durandy, 2001, Biochemical Society transactions.

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

A. Durandy, Lennart Hammarstrom, N. Rezaei, 2009, Journal of investigational allergology & clinical immunology.

Human PMS2 deficiency is associated with impaired immunoglobulin class switch recombination (ESID Parallel Session IVa : New insights in B-cell development)

A. Durandy, 2009 .

Clinical spectrum and features of activated phosphoinositide 3-kinase syndrome: Alarge patient cohort study

J. Casanova, S. Nejentsev, P. Palma, 2016 .

Severe combined immunodeficiency caused by deficiency in either the δ or the ε subunit of CD3

A. Fischer, F. Deist, F. Geissmann, 2004 .

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

H. Ochs, A. Durandy, K. Imai, 2010, Proceedings of the National Academy of Sciences.

Decreased somatic hypermutation induces an impaired peripheral B cell tolerance checkpoint.

M. van der Burg, L. Notarangelo, J. Walter, 2016, The Journal of clinical investigation.

[Development of the immune system].

A. Durandy, 1992, Pathologie-biologie.

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

L. Notarangelo, J. Walter, W. Al-Herz, 2015, Immunity.

Class switch recombination defects

A. Durandy, S. Kracker, 2020, Stiehm's Immune Deficiencies.

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

A. Smahi, R. Döffinger, A. Durandy, 2001, Nature genetics.

Retinoids Regulate Survival and Antigen Presentation by Immature Dendritic Cells

P. Chambon, P. Revy, F. Geissmann, 2003, The Journal of experimental medicine.

UKPIN 2015 Meeting Abstracts, December 2015: Oral Presentations

F. Rieux-Laucat, R. Döffinger, J. Casanova, 2015, Clinical and experimental immunology.