List of works - Nizar Mahlaoui

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

scientific article

B cell-helper neutrophils stimulate the diversification and production of immunoglobulin in the marginal zone of the spleen

scientific article

Clinical picture and treatment of 2212 patients with common variable immunodeficiency

scientific article published on 28 February 2014

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

scientific article

Neutrophil depletion impairs natural killer cell maturation, function, and homeostasis

scientific article published on 5 March 2012

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

scientific article published on 14 December 2011

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

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

scientific article published on 23 January 2009

Evidence of innate lymphoid cell redundancy in humans

scientific article published on 12 September 2016

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

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

scientific article published on July 2012

Ribosomal protein SA haploinsufficiency in humans with isolated congenital asplenia

scientific article

Enzyme replacement therapy and/or hematopoietic stem cell transplantation at diagnosis in patients with mucopolysaccharidosis type I: results of a European consensus procedure

scientific article

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

scientific article

Immunotherapy of Familial Hemophagocytic Lymphohistiocytosis With Antithymocyte Globulins: A Single-Center Retrospective Report of 38 Patients

scientific article published on 14 August 2007

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

scientific article

Primary immunodeficiency diseases worldwide: more common than generally thought

scientific article

Congenital neutropenia: diagnosis, molecular bases and patient management

scientific article

Outcome of hematopoietic stem cell transplantation for adenosine deaminase-deficient severe combined immunodeficiency.

scientific article published on 12 July 2012

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

TTC7A mutations disrupt intestinal epithelial apicobasal polarity

scientific article

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

scientific article published on December 2011

Morbidity and mortality from ataxia-telangiectasia are associated with ATM genotype

scientific article published on June 12, 2011

Diagnostic contribution of positron emission tomography with [18F]fluorodeoxyglucose for invasive fungal infections.

scientific article

Next-Generation Sequencing for Diagnosis and Tailored Therapy: A Case Report of Astrovirus-Associated Progressive Encephalitis.

scientific article published on 12 July 2015

Classification of and risk factors for hematologic complications in a French national cohort of 102 patients with Shwachman-Diamond syndrome

scientific article

Congenital asplenia in mice and humans with mutations in a Pbx/Nkx2-5/p15 module

scientific article

Epidemiology and outcome of invasive fungal diseases in patients with chronic granulomatous disease: a multicenter study in France

scientific article

Inflammatory manifestations in a single-center cohort of patients with chronic granulomatous disease

scholarly article by Alessandra Magnani et al published September 2014 in The Journal of Allergy and Clinical Immunology

Engagement of Transferrin Receptor by Polymeric IgA1: Evidence for a Positive Feedback Loop Involving Increased Receptor Expression and Mesangial Cell Proliferation in IgA Nephropathy

article

Multicenter experience in hematopoietic stem cell transplantation for serious complications of common variable immunodeficiency

scientific article

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

scientific article

Complementation of a pathogenic IFNGR2 misfolding mutation with modifiers of N-glycosylation.

scientific article published on 14 July 2008

Mycobacterial disease in patients with chronic granulomatous disease: A retrospective analysis of 71 cases.

scientific article

Management options for adenosine deaminase deficiency; proceedings of the EBMT satellite workshop (Hamburg, March 2006).

scientific article published on 14 February 2007

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

scientific article

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

scientific article

Autoimmune and inflammatory manifestations occur frequently in patients with primary immunodeficiencies

scientific article published on 9 February 2017

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

scientific article

Actinomyces in chronic granulomatous disease: an emerging and unanticipated pathogen.

scientific article

Prevention of infections during primary immunodeficiency

scientific article

Outcome of hematopoietic cell transplantation for DNA double-strand break repair disorders.

scientific article published on 6 April 2017

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

The pleiotropic movement disorders phenotype of adult ataxia-telangiectasia

scientific article published on 13 August 2014

The case for mandatory newborn screening for severe combined immunodeficiency (SCID).

scientific article published on 02 April 2014

Fusion of ZMIZ1 to ABL1 in a B-cell acute lymphoblastic leukaemia with a t(9;10)(q34;q22.3) translocation

scientific article published on 15 November 2007

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

scientific article published on 06 January 2015

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

scientific journal article

Epidemiology of congenital neutropenia

scientific article published on February 2013

Pulmonary manifestations in adult patients with chronic granulomatous disease

scientific article published on 22 January 2015

List of works by Nizar Mahlaoui

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

B cell-helper neutrophils stimulate the diversification and production of immunoglobulin in the marginal zone of the spleen

Clinical picture and treatment of 2212 patients with common variable immunodeficiency

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

Neutrophil depletion impairs natural killer cell maturation, function, and homeostasis

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

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

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

Evidence of innate lymphoid cell redundancy in humans

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

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

Ribosomal protein SA haploinsufficiency in humans with isolated congenital asplenia

Enzyme replacement therapy and/or hematopoietic stem cell transplantation at diagnosis in patients with mucopolysaccharidosis type I: results of a European consensus procedure

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

Immunotherapy of Familial Hemophagocytic Lymphohistiocytosis With Antithymocyte Globulins: A Single-Center Retrospective Report of 38 Patients

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

Primary immunodeficiency diseases worldwide: more common than generally thought

Congenital neutropenia: diagnosis, molecular bases and patient management

Outcome of hematopoietic stem cell transplantation for adenosine deaminase-deficient severe combined immunodeficiency.

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

TTC7A mutations disrupt intestinal epithelial apicobasal polarity

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

Morbidity and mortality from ataxia-telangiectasia are associated with ATM genotype

Diagnostic contribution of positron emission tomography with [18F]fluorodeoxyglucose for invasive fungal infections.

Next-Generation Sequencing for Diagnosis and Tailored Therapy: A Case Report of Astrovirus-Associated Progressive Encephalitis.

Classification of and risk factors for hematologic complications in a French national cohort of 102 patients with Shwachman-Diamond syndrome

Congenital asplenia in mice and humans with mutations in a Pbx/Nkx2-5/p15 module

Epidemiology and outcome of invasive fungal diseases in patients with chronic granulomatous disease: a multicenter study in France

Inflammatory manifestations in a single-center cohort of patients with chronic granulomatous disease

Engagement of Transferrin Receptor by Polymeric IgA1: Evidence for a Positive Feedback Loop Involving Increased Receptor Expression and Mesangial Cell Proliferation in IgA Nephropathy

Multicenter experience in hematopoietic stem cell transplantation for serious complications of common variable immunodeficiency

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

Complementation of a pathogenic IFNGR2 misfolding mutation with modifiers of N-glycosylation.

Mycobacterial disease in patients with chronic granulomatous disease: A retrospective analysis of 71 cases.

Management options for adenosine deaminase deficiency; proceedings of the EBMT satellite workshop (Hamburg, March 2006).

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

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

Autoimmune and inflammatory manifestations occur frequently in patients with primary immunodeficiencies

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

Actinomyces in chronic granulomatous disease: an emerging and unanticipated pathogen.

Prevention of infections during primary immunodeficiency

Outcome of hematopoietic cell transplantation for DNA double-strand break repair disorders.

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

The pleiotropic movement disorders phenotype of adult ataxia-telangiectasia

The case for mandatory newborn screening for severe combined immunodeficiency (SCID).

Fusion of ZMIZ1 to ABL1 in a B-cell acute lymphoblastic leukaemia with a t(9;10)(q34;q22.3) translocation

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

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

Epidemiology of congenital neutropenia

Pulmonary manifestations in adult patients with chronic granulomatous disease