B. Lisowska‐Grospierre

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Leukocyte adhesion deficiency: molecular basis and functional consequences.

A. Fischer, T. Springer, D. Anderson, 1988, Immunodeficiency reviews.

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

A. Fischer, F. Deist, W. Wiszniewski, 2003, Immunogenetics.

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

A. Fischer, F. Deist, C. Soudais, 1993, Nature Genetics.

An HLA-DRα promoter DNA-binding protein is expressed ubiquitously and maps to human chromosomes 22 and 5

R. Eddy, T. Shows, C. Griscelli, 2004, Immunogenetics.

Inherited immunodeficiency with a defect in a major histocompatibility complex class II promoter-binding protein differs in the chromatin structure of the HLA-DRA gene

P. Gönczy, W. Reith, B. Mach, 1989, Molecular and cellular biology.

A trans-acting class II regulatory gene unlinked to the MHC controls expression of HLA class II genes

B. Mach, C. Griscelli, B. Lisowska‐Grospierre, 1985, Nature.

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 .

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 .

Primary membrane T cell immunodeficiencies.

C. Griscelli, G. de Saint Basile, N. Cerf-Bensussan, 1991, Clinical immunology and immunopathology.

Major histocompatibility complex class II deficiency: clinical manifestations, immunologic features, and outcome.

A. Fischer, C. Klein, F. Ledeist, 1993, The Journal of pediatrics.

Immunodeficiency with low expression of the T cell receptor/CD3 complex. Effect on T lymphocyte activation

A. Fischer, F. Le Deist, J. Corado, 1991, European journal of immunology.

Splicing defect in RFXANK results in a moderate combined immunodeficiency and long-duration clinical course

G. Barbieri, D. Charron, S. Pollack, 2003, Immunogenetics.

Founder effect for a 26-bp deletion in the RFXANK gene in North African major histocompatibility complex class II-deficient patients belonging to complementation group B

K. Schwarz, W. Reith, W. Wiszniewski, 2000, Immunogenetics.

Two complementation groups account for most cases of inherited MHC class II deficiency.

M. Rols, C. Griscelli, A. Fischer, 1994, Human molecular genetics.

Antibody levels to Candida albicans carbohydrate and major cytoplasmic antigens isolated from standard and patient strains.

G. de Saint Basile, B. Lisowska‐Grospierre, W. Karwowska, 1984, Annales d'immunologie.

Combined immunodeficiency with defective expression in MHC class II genes.

B. Mach, C. Griscelli, B. Lisowska‐Grospierre, 1989, Immunodeficiency reviews.

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 .

Heterogeneity in the molecular defect leading to the leukocyte adhesion deficiency

M. Dimanche-Boitrel, B. Lisowska‐Grospierre, G. de Saint-Basile, 1988, European journal of immunology.

Regulation of MHC class II expression by interferon-gamma mediated by the transactivator gene CIITA.

B. Mach, C. Siegrist, V. Steimle, 1994, Science.

A monoclonal antibody (HML‐1) defining a novel membrane molecule present on human intestinal lymphocytes

C. Griscelli, N. Brousse, A. Jarry, 1987, European journal of immunology.

Genetic analysis of the human CD3-epsilon gene in a T cell receptor/CD3 immunodeficiency.

F. Le Deist, J. de Villartay, A. Fischer, 1993, Immunodeficiency.

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.

Immune response to Toxoplasma gondii in man. I. Common idiotypic determinants of toxoplasma-specific human antibodies.

C. Griscelli, B. Lisowska‐Grospierre, G. de Saint-Basile, 1981, Annales d'immunologie.

Bone marrow transplantation in major histocompatibility complex class II deficiency: a single-center study of 19 patients.

A. Fischer, C. Klein, C. Griscelli, 1995, Blood.

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

A. Fischer, J. Casanova, A. Bousfiha, 2011, Blood.

MHC class II deficiency: a disease of gene regulation.

W. Reith, J. Villard, A. Fischer, 2001, Medicine.

Mutation in the Class II trans-Activator Leading to a Mild Immunodeficiency1

N. Brousse, W. Wiszniewski, G. Barbieri, 2001, The Journal of Immunology.

Mutation of RFXAP, a regulator of MHC class II genes, in primary MHC class II deficiency.

W. Reith, B. Mach, J. Villard, 1997, The New England journal of medicine.

Defective membrane expression of the LFA‐1 complex may be secondary to the absence of the β chain in a child with recurrent bacterial infection

A. Fischer, C. Mawas, B. Lisowska‐Grospierre, 1986, European journal of immunology.

Effects of interferon-γ (IFN-γ) and tumor necrosis factor-α (TNF-α) on the expression of LFA-1 in the moderate phenotype of leukocyte adhesion deficiency (LAD)

M. Dimanche-Boitrel, C. Griscelli, A. Fischer, 1989, Journal of Clinical Immunology.

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

C. Griscelli, F. Le Deist, A. Fischer, 1992, The Journal of biological chemistry.

Genetic and molecular definition of complementation group D in MHC class II deficiency.

W. Reith, B. Mach, W. Wiszniewski, 1998, Human molecular genetics.

Congenital immunodeficiency with a regulatory defect in MHC class II gene expression lacks a specific HLA-DR promoter binding protein, RF-X

W. Reith, B. Mach, C. Griscelli, 1988, Cell.

The Leukocyte Adhesion Deficiency

A. Fischer, F. Mazerolles, B. Lisowska‐Grospierre, 1989 .

N‐terminal destruction signals lead to rapid degradation of the major histocompatibility complex class II transactivator CIITA

S. Bontron, V. Steimle, S. Hake, 2003, European journal of immunology.

LFA‐1 β‐chain synthesis and degradation in patients with leukocyte‐adhesive proteins deficiency

C. Griscelli, M. Arnaout, A. Fischer, 1987, European journal of immunology.

Leukocyte Adhesion Deficiency as a Model for the Study of the Functional Role of LFA-1

M. Dimanche-Boitrel, C. Griscelli, A. Fischer, 1990 .

Isoforms of the class II transactivator protein.

A. Fischer, G. Barbieri, D. Charron, 2002, International immunology.

NF-X, a transcription factor implicated in MHC class II gene regulation.

V. Kouskoff, C. Benoist, C. Griscelli, 1991, Journal of immunology.

Three novel mutations of the CIITA gene in MHC class II-deficient patients with a severe immunodeficiency

Dominique Charron, Capucine Picard, A. Fischer, 2002, Immunogenetics.

A causative relationship between mutant IFNgR1 alleles and impaired cellular response to IFNgamma in a compound heterozygous child.

A. Fischer, J. Casanova, R. Schreiber, 1998, American journal of human genetics.

Immunodeficiency associated with defective expression of the T-cell receptor-CD3 complex.

C. Griscelli, F. Le Deist, A. Fischer, 1990, The New England journal of medicine.

A monoclonal antibody specific for rat intestinal lymphocytes.

C. Griscelli, N. Cerf-Bensussan, A. Bhan, 1986, Journal of immunology.

Erratum: Mutation in the class II trans-activator leading to a mild immunodeficiency (The Journal of Immunology (2001) 167 (1787-1794))

A. Fischer, F. Deist, N. Brousse, 2002 .

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

F. Le Deist, J. de Villartay, A. Fischer, 1993, Nature genetics.

Severe Combined Immunodeficiencies in Humans

F. Rieux-Laucat, F. Deist, M. Cavazzana‐Calvo, 1993 .

Monoclonal antibodies specific for human and rat intestinal lymphocytes.

C. Griscelli, N. Brousse, A. Jarry, 1987, Advances in Experimental Medicine and Biology.

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.

Bone marrow transplantation in major histocompatibility complex class II deficiency: a single-center study of 19 patients.

F. Deist, M. Cavazzana‐Calvo, B. Lisowska‐Grospierre, 1995, Blood.