List of works - Nizar Mahlaoui

A child with a systemic febrile illness - differential diagnosis and management

scientific article published on August 2006

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

scientific article

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

scientific article

Advances in the Care of Primary Immunodeficiencies (PIDs): from Birth to Adulthood

scientific article

Association of mastocytosis with inflammatory joint diseases: a series of 31 patients

scientific article

Autoimmune and inflammatory manifestations occur frequently in patients with primary immunodeficiencies

scientific article published on 9 February 2017

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

scientific article

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

scientific article

Childhood craniopharyngioma: greater hypothalamic involvement before surgery is associated with higher homeostasis model insulin resistance index

scientific article

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

scientific article published on March 2017

Chronic Granulomatous Disease with the McLeod Phenotype: a French National Retrospective Case Series

scientific article published on 19 June 2020

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

scientific article

Clinical and economic aspects of newborn screening for severe combined immunodeficiency: DEPISTREC study results

scientific article published on 01 April 2019

Clinical picture and treatment of 2212 patients with common variable immunodeficiency

scientific article published on 28 February 2014

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

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

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

scientific article published on 14 July 2008

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

scientific article

Congenital neutropenia: diagnosis, molecular bases and patient management

scientific article

Cutaneous and Visceral Chronic Granulomatous Disease Triggered by a Rubella Virus Vaccine Strain in Children With Primary Immunodeficiencies.

scientific article published on 6 October 2016

Defective functions of polymorphonuclear neutrophils in patients with common variable immunodeficiency

scientific article published in October 2014

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

scientific article

Disease Evolution and Response to Rapamycin in Activated Phosphoinositide 3-Kinase δ Syndrome: The European Society for Immunodeficiencies-Activated Phosphoinositide 3-Kinase δ Syndrome Registry. ⬇️

scientific article published on 16 March 2018

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

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

Enterobacter cloacae pyomyositis complicating chronic granulomatous disease and review of gram-negative bacilli pyomyositis.

scientific article published on February 2013

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

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

scientific article

Epidemiology of congenital neutropenia

scientific article published on February 2013

Erratum: Corrigendum: B cell–helper neutrophils stimulate the diversification and production of immunoglobulin in the marginal zone of the spleen

scholarly article by Irene Puga et al published February 2014 in Nature Immunology

Erratum: Corrigendum: Evidence of innate lymphoid cell redundancy in humans

article

Evaluating Continuity During Transfer to Adult Care: A Systematic Review

scientific article

Evaluation of the T-cell receptor excision circle assay performances for severe combined immunodeficiency neonatal screening on Guthrie cards in a French single centre study

scientific article published in December 2013

Evidence of innate lymphoid cell redundancy in humans

scientific article published on 12 September 2016

Explorations immunitaires chez l’enfant suivi pour infections respiratoires récurrentes

scientific article published on 01 December 2007

Failure of bone marrow transplantation to eradicate HIV reservoir despite efficient HAART

article

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

scientific article

Functional classification of ATM variants in ataxia-telangiectasia patients

scientific article published on 17 May 2019

Fungal infections and congenital immune deficiencies

scientific article

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

Genetic, Cellular and Clinical Features of ICF Syndrome: a French National Survey

scientific article

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

scientific article

Hematopoietic stem cell transplantation for CD40 ligand deficiency: results from an EBMT/ESID-IEWP-SCETIDE-PIDTC Study

scientific article published on 17 January 2019

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

scientific article

Ichthyosis as the dermatological phenotype associated with TTC7A mutations.

scientific article published on 31 August 2016

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

scientific article published on 14 August 2007

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

Incomplete penetrance for isolated congenital asplenia in humans with mutations in translated and untranslated RPSA exons

Incomplete penetrance for isolated congenital asplenia in humans with mutations in translated and untranslated exons

article published in the Proceedings of the National Academy of Sciences of the United States of America

Indications and outcomes of antifungal therapy in French patients with haematological conditions or recipients of haematopoietic stem cell transplantation

article

Infections fongiques et granulomatose septique chronique

scientific article published on 12 November 2012

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

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

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

scientific article

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

scientific article published on 06 January 2015

Laronidase for cardiopulmonary disease in Hurler syndrome 12 years after bone marrow transplantation

scientific article published on 25 October 2010

Live rubella virus vaccine long-term persistence as an antigenic trigger of cutaneous granulomas in patients with primary immunodeficiency.

scientific article published on 5 March 2014

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

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

Lopinavir/ritonavir-based antiretroviral therapy in human immunodeficiency virus type 1-infected naive children: rare protease inhibitor resistance mutations but high lamivudine/emtricitabine resistance at the time of virologic failure

scientific article

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

scientific article published on 14 December 2011

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

scientific article published on 14 February 2007

Managing Inflammatory Manifestations in Patients with Chronic Granulomatous Disease

scientific article published on 14 June 2016

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

scientific article published on June 12, 2011

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

scientific article

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

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

scientific article

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

scientific article published on 5 March 2012

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

scientific article published on 12 July 2015

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

scientific article published on 6 April 2017

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

scientific article published on 12 July 2012

PROMIDISα: A T-cell receptor α signature associated with immunodeficiencies caused by V(D)J recombination defects

scientific article published on 12 June 2018

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

scientific article published on 9 January 2018

Physical health conditions and quality of life in adults with primary immunodeficiency diagnosed during childhood: A French Reference Center for PIDs (CEREDIH) study

scientific article

Prevention of infections during primary immunodeficiency

scientific article

Primary immunodeficiency diseases worldwide: more common than generally thought

scientific article

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

Pulmonary manifestations in adult patients with chronic granulomatous disease

scientific article published on 22 January 2015

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

scientific article published in March 2014

Ribosomal protein SA haploinsufficiency in humans with isolated congenital asplenia

scientific article

Successful in utero stem cell transplantation in X-linked severe combined immunodeficiency

scientific article published on 01 February 2019

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

The Development of a New Questionnaire to Measure the Burden of Immunoglobulin Treatment in Patients with Primary Immunodeficiencies: The IgBoT-35

scientific article published on 03 September 2020

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

scientific article published on 02 April 2014

The pleiotropic movement disorders phenotype of adult ataxia-telangiectasia

scientific article published on 13 August 2014

Therapeutic drug monitoring of voriconazole after intravenous administration in infants and children with primary immunodeficiency

scientific article published in August 2011

Treatment of acute leukemia in children with ataxia telangiectasia (A-T).

scientific article published on 26 May 2016

Variant of X-Linked Chronic Granulomatous Disease Revealed by a Severe Burkholderia cepacia Invasive Infection in an Infant

scientific article

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

[Curing a congenital immunologic deficiency]

scientific article published on 01 October 2007

[Infections in splenectomized patient]

scientific article published on 01 December 2008

List of works by Nizar Mahlaoui

A child with a systemic febrile illness - differential diagnosis and management

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

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

Advances in the Care of Primary Immunodeficiencies (PIDs): from Birth to Adulthood

Association of mastocytosis with inflammatory joint diseases: a series of 31 patients

Autoimmune and inflammatory manifestations occur frequently in patients with primary immunodeficiencies

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

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

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

Childhood craniopharyngioma: greater hypothalamic involvement before surgery is associated with higher homeostasis model insulin resistance index

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

Chronic Granulomatous Disease with the McLeod Phenotype: a French National Retrospective Case Series

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

Clinical and economic aspects of newborn screening for severe combined immunodeficiency: DEPISTREC study results

Clinical picture and treatment of 2212 patients with common variable immunodeficiency

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

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

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

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

Congenital neutropenia: diagnosis, molecular bases and patient management

Cutaneous and Visceral Chronic Granulomatous Disease Triggered by a Rubella Virus Vaccine Strain in Children With Primary Immunodeficiencies.

Defective functions of polymorphonuclear neutrophils in patients with common variable immunodeficiency

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

Disease Evolution and Response to Rapamycin in Activated Phosphoinositide 3-Kinase δ Syndrome: The European Society for Immunodeficiencies-Activated Phosphoinositide 3-Kinase δ Syndrome Registry. ⬇️

Early-onset hypogammaglobulinemia: A survey of 44 patients

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

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

Enterobacter cloacae pyomyositis complicating chronic granulomatous disease and review of gram-negative bacilli pyomyositis.

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

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

Epidemiology of congenital neutropenia

Erratum: Corrigendum: B cell–helper neutrophils stimulate the diversification and production of immunoglobulin in the marginal zone of the spleen

Erratum: Corrigendum: Evidence of innate lymphoid cell redundancy in humans

Evaluating Continuity During Transfer to Adult Care: A Systematic Review

Evaluation of the T-cell receptor excision circle assay performances for severe combined immunodeficiency neonatal screening on Guthrie cards in a French single centre study

Evidence of innate lymphoid cell redundancy in humans

Explorations immunitaires chez l’enfant suivi pour infections respiratoires récurrentes

Failure of bone marrow transplantation to eradicate HIV reservoir despite efficient HAART

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

Functional classification of ATM variants in ataxia-telangiectasia patients

Fungal infections and congenital immune deficiencies

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

Genetic, Cellular and Clinical Features of ICF Syndrome: a French National Survey

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

Hematopoietic stem cell transplantation for CD40 ligand deficiency: results from an EBMT/ESID-IEWP-SCETIDE-PIDTC Study

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

Ichthyosis as the dermatological phenotype associated with TTC7A mutations.

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

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

Incomplete penetrance for isolated congenital asplenia in humans with mutations in translated and untranslated RPSA exons

Incomplete penetrance for isolated congenital asplenia in humans with mutations in translated and untranslated exons

Indications and outcomes of antifungal therapy in French patients with haematological conditions or recipients of haematopoietic stem cell transplantation

Infections fongiques et granulomatose septique chronique

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

Intestinal dysbiosis in Inflammatory Bowel Disease associated with primary immunodeficiency

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

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

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

Laronidase for cardiopulmonary disease in Hurler syndrome 12 years after bone marrow transplantation

Live rubella virus vaccine long-term persistence as an antigenic trigger of cutaneous granulomas in patients with primary immunodeficiency.

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

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

Lopinavir/ritonavir-based antiretroviral therapy in human immunodeficiency virus type 1-infected naive children: rare protease inhibitor resistance mutations but high lamivudine/emtricitabine resistance at the time of virologic failure

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

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

Managing Inflammatory Manifestations in Patients with Chronic Granulomatous Disease

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

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

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

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

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

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

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

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

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

PROMIDISα: A T-cell receptor α signature associated with immunodeficiencies caused by V(D)J recombination defects

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

Physical health conditions and quality of life in adults with primary immunodeficiency diagnosed during childhood: A French Reference Center for PIDs (CEREDIH) study

Prevention of infections during primary immunodeficiency