N. Mahlaoui

C. Maunoury, N. Mahlaoui, M. Bougnoux, 2011, Clinical microbiology and infection : the official publication of the European Society of Clinical Microbiology and Infectious Diseases.

Engagement of transferrin receptor by polymeric IgA1: evidence for a positive feedback loop involving increased receptor expression and mesangial cell proliferation in IgA nephropathy.

E. Haddad, F. Vrtovsnik, N. Mahlaoui, 2005, Journal of the American Society of Nephrology : JASN.

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

N. Mahlaoui, I. Desguerre, M. Frémond, 2015, Journal of the Pediatric Infectious Diseases Society.

Functional classification of ATM variants in ataxia‐telangiectasia patients

T. Dörk, M. Stern, P. Calvas, 2019, Human mutation.

Clinical picture and treatment of 2212 patients with common variable immunodeficiency.

É. Oksenhendler, P. Soler-Palacín, A. Šedivá, 2014, The Journal of allergy and clinical immunology.

Improving the diagnostic efficiency of primary immunodeficiencies with targeted next-generation sequencing.

F. Rieux-Laucat, A. Fischer, C. Picard, 2020, The Journal of allergy and clinical immunology.

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

F. Rieux-Laucat, A. Fischer, C. Picard, 2016, The Journal of allergy and clinical immunology.

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

J. Casanova, D. Elliott, T. Capellini, 2012, Developmental cell.

Defective functions of polymorphonuclear neutrophils in patients with common variable immunodeficiency

S. Kaveri, N. Mahlaoui, J. Bayry, 2014, Immunologic research.

Le syndrome de Wiskott-Aldrich. Une maladie à présentation variable : du diagnostic aux traitements

N. Mahlaoui, A. Fischer, I. Pellier, 2015 .

Ichthyosis as the dermatological phenotype associated with TTC7A mutations

A. Fischer, N. Mahlaoui, S. Hadj-Rabia, 2016, The British journal of dermatology.

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

A. Fischer, C. Picard, N. Mahlaoui, 2007, Pediatrics.

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

A. Prieur, N. Mahlaoui, M. Hofer, 2006, Best practice & research. Clinical rheumatology.

Current Spectrum of Infections in Patients with X-Linked Agammaglobulinemia

A. Fischer, C. Picard, N. Mahlaoui, 2021, Journal of Clinical Immunology.

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

A. Fischer, J. Casanova, C. Picard, 2009, Blood.

CNS involvement at the onset of primary hemophagocytic lymphohistiocytosis

N. Mahlaoui, G. de Saint Basile, M. Tardieu, 2012, Neurology.

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

A. Fischer, J. Casanova, C. Picard, 2011, The Journal of pediatrics.

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

F. Rieux-Laucat, A. Fischer, C. Picard, 2018, Clinical immunology.

Universal Newborn Screening for Severe Combined Immunodeficiency (SCID)

M. van der Burg, S. Pai, N. Mahlaoui, 2019, Front. Pediatr..

Systematic neonatal screening for severe combined immunodeficiency and severe T-cell lymphopenia: Analysis of cost-effectiveness based on French real field data.

A. Fischer, I. Durand-zaleski, N. Mahlaoui, 2015, The Journal of allergy and clinical immunology.

Impact of Early Versus Late Antiretroviral Treatment Initiation on Naive T Lymphocytes in HIV-1-Infected Children and Adolescents – The-ANRS-EP59-CLEAC Study

N. Mahlaoui, P. Frange, T. Montange, 2021, Frontiers in Immunology.

Infections in Patients with Chronic Granulomatous Disease Treated with Tumor Necrosis Factor Alpha Blockers for Inflammatory Complications

H. Sokol, N. Mahlaoui, B. Neven, 2020, Journal of clinical immunology.

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

S. Serrano, J. Lloreta, J. Casanova, 2016 .

Devastating gynecological infections in women with STAT3 deficiency.

C. Bodemer, N. Mahlaoui, O. Lortholary, 2020, Clinical infectious diseases : an official publication of the Infectious Diseases Society of America.

Current Transition Practice for Primary Immunodeficiencies and Autoinflammatory Diseases in Europe: a RITA-ERN Survey

P. Soler-Palacín, N. Mahlaoui, A. Korganow, 2022, Journal of Clinical Immunology.

Inborn errors of immunity caused by defects in the DNA damage response pathways: Importance of minimizing treatment‐related genotoxicity

N. Mahlaoui, D. Moshous, J. de Villartay, 2022, Pediatric allergy and immunology : official publication of the European Society of Pediatric Allergy and Immunology.

A. Fischer, E. López-Granados, E. Mejstrikova, 2011, Blood.

Genotype–phenotype correlations in ataxia telangiectasia patients with ATM c.3576G>A and c.8147T>C mutations

T. Dörk, C. Schrader, B. P. Van de Warrenburg, 2019, Journal of Medical Genetics.

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.

A. Fischer, A. Schulz, W. Friedrich, 2011, Blood.

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

A. Fischer, A. Schulz, W. Friedrich, 2011 .

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

A. Fischer, A. Schulz, B. Wolska-Kuśnierz, 2018, The Journal of allergy and clinical immunology.

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

N. Mahlaoui, Y. Bertrand, A. Thiébaut, 2012, Journal of Antimicrobial Chemotherapy.

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

C. Recasens, K. Busiah, C. Sainte-Rose, 2009, BMC pediatrics.

Pulmonary manifestations in adult patients with chronic granulomatous disease

A. Fischer, N. Mahlaoui, R. Borie, 2015, European Respiratory Journal.

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

A. Fischer, N. Mahlaoui, O. Lortholary, 2011, Clinical infectious diseases : an official publication of the Infectious Diseases Society of America.

Epidemiology and Outcome of Invasive Fungal Diseases in Patients With Chronic Granulomatous Disease: A Multicenter Study in France

A. Fischer, N. Mahlaoui, O. Hermine, 2011, The Pediatric infectious disease journal.

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

A. Fischer, C. Picard, P. Soler-Palacín, 2018, Front. Immunol..

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

A. Fischer, C. Picard, A. Gennery, 2009, The Journal of clinical investigation.

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.

A. Fischer, I. Durand-zaleski, N. Mahlaoui, 2014, Clinical immunology.

Therapeutic Drug Monitoring of Voriconazole After Intravenous Administration in Infants and Children With Primary Immunodeficiency

C. Elie, N. Mahlaoui, O. Lortholary, 2011, Therapeutic drug monitoring.

Coronavirus disease 2019 in patients with inborn errors of immunity: An international study

B. Lambrecht, A. Fischer, E. López-Granados, 2020, Journal of Allergy and Clinical Immunology.

Cutaneous granulomas with primary immunodeficiency in children: a report of 17 new patients and a review of the literature

C. Bodemer, N. Mahlaoui, B. Neven, 2019, Journal of the European Academy of Dermatology and Venereology : JEADV.

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

A. Fischer, N. Mahlaoui, O. Hermine, 2014, The Journal of allergy and clinical immunology.

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

T. Molina, C. Bodemer, B. le Bail, 2017, Clinical infectious diseases : an official publication of the Infectious Diseases Society of America.

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

C. Bodemer, N. Mahlaoui, M. Eloit, 2014, Clinical microbiology and infection : the official publication of the European Society of Clinical Microbiology and Infectious Diseases.

Spectrum of Pulmonary Aspergillosis in Hyper-IgE Syndrome with Autosomal-Dominant STAT3 Deficiency.

C. Picard, N. Mahlaoui, G. Jouvion, 2019, The journal of allergy and clinical immunology. In practice.

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.

Invasive Fungal Infection in Primary Immunodeficiencies Other Than Chronic Granulomatous Disease

N. Mahlaoui, A. Puel, O. Lortholary, 2017, Current Fungal Infection Reports.

Initial presenting manifestations in 16,486 patients with Inborn Errors of Immunity include infections and non-infectious manifestations.

Nurit Assia Batzir, K. Schwarz, D. Foell, 2021, The Journal of allergy and clinical immunology.

Prevention of infections during primary immunodeficiency.

A. Fischer, C. Picard, É. Oksenhendler, 2014, Clinical infectious diseases : an official publication of the Infectious Diseases Society of America.

Evidence of innate lymphoid cell redundancy in humans

A. Fischer, C. Picard, N. Mahlaoui, 2016, Nature Immunology.

Laronidase for Cardiopulmonary Disease in Hurler Syndrome 12 Years After Bone Marrow Transplantation

A. Fischer, N. Mahlaoui, P. de Lonlay, 2010, Pediatrics.

Hematopoietic stem cell transplantation for CD40 ligand deficiency: Results from an EBMT/ESID-IEWP-SCETIDE-PIDTC study.

A. Fischer, A. Schulz, Joanne M. Smart, 2019, The Journal of allergy and clinical immunology.

Primary Immunodeficiency Diseases Worldwide: More Common than Generally Thought

J. Casanova, L. Jeddane, F. Ailal, 2012, Journal of Clinical Immunology.

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

Ivan K. Chinn, A. Fischer, C. Pignata, 2011, Blood.

Brief Definitive Report

J. Casanova, C. Picard, J. Puck, 2003 .

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

N. Mahlaoui, O. Hermine, O. Lortholary, 2013, European Journal of Clinical Microbiology & Infectious Diseases.

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

F. Rieux-Laucat, A. Fischer, C. Picard, 2012, Blood.

The European Society for Immunodeficiencies (ESID) Registry Working Definitions for the Clinical Diagnosis of Inborn Errors of Immunity.

S. Ehl, N. Mahlaoui, J. V. van Montfrans, 2019, The journal of allergy and clinical immunology. In practice.

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

J. Casanova, C. Picard, N. Mahlaoui, 2013, Case reports in immunology.

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

A. Fischer, J. Jais, N. Brousse, 2015, Journal of clinical oncology : official journal of the American Society of Clinical Oncology.

Immune deficiencies , infection , and systemic immune disorders Morbidity and mortality from ataxia-telangiectasia are associated with ATM genotype

A. Fischer, C. Picard, M. Koenig, 2011 .

The PID Life Index: an interactive tool to measure the status of the PID healthcare environment in any given country

Silvia Sánchez-Ramón, Leire Solis, Julia Nordin, 2021, Orphanet Journal of Rare Diseases.

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

C. Rouzioux, N. Mahlaoui, P. Frange, 2011, The Pediatric infectious disease journal.

Multicentric Castleman Disease in an HHV8-Infected Child Born to Consanguineous Parents With Systematic Review

A. Fischer, J. Casanova, C. Picard, 2012, Pediatrics.

PROMIDIS&agr;: A T‐cell receptor &agr; signature associated with immunodeficiencies caused by V(D)J recombination defects

A. Fischer, C. Picard, É. Oksenhendler, 2019, The Journal of allergy and clinical immunology.

Hematopoietic cell transplantation in severe combined immunodeficiency: the SCETIDE 2006-2014 European cohort.

A. Fischer, A. Schulz, W. Friedrich, 2021, The Journal of allergy and clinical immunology.

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

A. Fischer, W. Friedrich, L. Notarangelo, 2012, Blood.

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

S. Serrano, J. Lloreta, J. Casanova, 2014, Nature Immunology.

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

N. Mahlaoui, K. Warnatz, A. Cant, 2017, Journal of Clinical Immunology.

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

Baptiste N. Jaeger, M. Bajénoff, B. Malissen, 2012, The Journal of experimental medicine.

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

T. Leblanc, C. Bellanné-Chantelot, S. Beaufils, 2012, Haematologica.

Hematopoietic Stem Cell Transplantation in Hemophagocytic Lymphohistiocytosis: A Single-Center Report of 48 Patients

A. Fischer, J. Casanova, C. Picard, 2006, Pediatrics.

Evidence of innate lymphoid cell redundancy in humans

A. Fischer, C. Picard, N. Mahlaoui, 2016, Nature Immunology.

Epidemiology of congenital neutropenia.

C. Bellanné-Chantelot, N. Mahlaoui, J. Donadieu, 2013, Hematology/oncology clinics of North America.

Curative allogeneic hematopoietic stem cell transplantation following reduced toxicity conditioning in adults with primary immunodeficiency

A. Fischer, P. van Endert, C. Picard, 2022, Bone Marrow Transplantation.

Lymphohistiocytosis: A Single-Center Report of 48 Patients Hematopoietic Stem Cell Transplantation in Hemophagocytic

J. Casanova, C. Picard, C. Elie, 2010 .

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

A. Fischer, C. Picard, N. Mahlaoui, 2016, Journal of Clinical Immunology.

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

A. Fischer, H. Sokol, C. Elie, 2017, Clinical infectious diseases : an official publication of the Infectious Diseases Society of America.

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

A. Fischer, J. Jais, C. Picard, 2013, Blood.

Outcome of chronic granulomatous disease ‐ Conventional treatment vs stem cell transplantation

A. Fischer, N. Mahlaoui, J. Schulte, 2020, Pediatric allergy and immunology : official publication of the European Society of Pediatric Allergy and Immunology.

Infections in Patients with Chronic Granulomatous Disease Treated with Tumor Necrosis Factor Alpha Blockers for Inflammatory Complications

H. Sokol, N. Mahlaoui, B. Neven, 2020, Journal of Clinical Immunology.

Simple Measurement of IgA Predicts Immunity and Mortality in Ataxia-Telangiectasia

A. Plebani, C. Pignata, S. Reda, 2021, Journal of Clinical Immunology.

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

A. Fischer, J. Casanova, C. Picard, 2018, Proceedings of the National Academy of Sciences.

A 1-Year Prospective French Nationwide Study of Emergency Hospital Admissions in Children and Adults with Primary Immunodeficiency

F. Rieux-Laucat, A. Fischer, J. Jais, 2019, Journal of Clinical Immunology.

Lymphoproliferative disease in patients with Wiskott-Aldrich syndrome: Analysis of the French Registry of Primary Immunodeficiencies.

A. Fischer, M. Bernard, P. Rohrlich, 2019, The Journal of allergy and clinical immunology.

Genetic diagnosis of primary immunodeficiencies: A survey of the French national registry.

A. Fischer, J. Jais, C. Picard, 2019, The Journal of allergy and clinical immunology.

Autoimmune and inflammatory manifestations occur frequently in patients with primary immunodeficiencies

F. Rieux-Laucat, A. Fischer, J. Jais, 2017, The Journal of allergy and 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.

Wiskott-Aldrich syndrome

N. Mahlaoui, C. Miot, Alain Fischer, 2005, Hématologie.

Burden of Poor Health Conditions and Quality of Life in 656 Children with Primary Immunodeficiency

A. Fischer, P. Auquier, C. Picard, 2017, The Journal of pediatrics.

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

A. Fischer, P. Auquier, C. Picard, 2017, The Journal of allergy and clinical immunology.

Primary Immunodeficiency Diseases Worldwide: More Common than Generally Thought

J. Casanova, L. Jeddane, F. Ailal, 2012, Journal of Clinical Immunology.

Rilpivirine in HIV-1-positive women initiating pregnancy: to switch or not to switch?

A. Fischer, R. Tubiana, L. Cravello, 2020, The Journal of antimicrobial chemotherapy.

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

C. Rouzioux, M. Cavazzana‐Calvo, N. Mahlaoui, 2007, AIDS.

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.

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

O. Bernard, N. Mahlaoui, M. Vekemans, 2008, Leukemia.

Hematopoietic stem cell transplantation for adolescents and adults with inborn errors of immunity, an EBMT IEWP study.

A. Schulz, A. Gennery, N. Mahlaoui, 2022, Blood.

TTC7A mutations disrupt intestinal epithelial apicobasal polarity.

A. Fischer, C. Ellingsen, H. Clevers, 2014, The Journal of clinical investigation.

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

N. Mahlaoui, K. Warnatz, A. Cant, 2017, Journal of Clinical Immunology.

Intestinal dysbiosis in inflammatory bowel disease associated with primary immunodeficiency.

A. Fischer, C. Picard, S. Pannier, 2019, The Journal of allergy and clinical immunology.

CLINICAL TRIALS AND OBSERVATIONS Characteristics and outcome of early-onset, severe forms of Wiskott-Aldrich syndrome

A. Fischer, J. Jais, M. Cavazzana‐Calvo, 2016 .

Primary immunodeficiency-related bronchiectasis in adults: comparison with bronchiectasis of other etiologies in a French reference center

A. Fischer, P. Devillier, N. Mahlaoui, 2019, Respiratory Research.

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

N. Mahlaoui, J. Loeffen, F. Suarez, 2016, European journal of medical genetics.

Progressive Multifocal Leukoencephalopathy in Primary Immunodeficiencies

C. Picard, N. Mahlaoui, J. Hadjadj, 2018, Journal of Clinical Immunology.

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

A. Fischer, C. Picard, I. Durand-zaleski, 2019, Clinical immunology.

Primary immunodeficiencies (PID) Life Index in Southeast Asia: A comparative analysis of PID Principles of Care (PoC)

N. Mahlaoui, J. Prévot, Adli Ali, 2023, Frontiers in Immunology.

The NEW ESID online database network

Raphael Scheible, Stephan Rusch, Gerhard Kindle, 2019, Bioinform..

Economic evaluation of immunoglobulin replacement in patients with primary antibody deficiencies

A. Fischer, N. Mahlaoui, P. Lévy, 2009, Clinical and experimental immunology.

The Case for Mandatory Newborn Screening for Severe Combined Immunodeficiency (SCID)

L. Hammarström, N. Mahlaoui, S. Borte, 2014, Journal of Clinical Immunology.

Review: Why screen for severe combined immunodeficiency disease?

N. Mahlaoui, D. Moshous, V. Riche, 2020, Archives de pediatrie : organe officiel de la Societe francaise de pediatrie.

Prevalence of primary immunodeficiencies in France is underestimated.

A. Fischer, J. Jais, N. Mahlaoui, 2017, The Journal of allergy and clinical immunology.

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

N. Mahlaoui, Georgina L Jones, M. Edmondson-Jones, 2020, Patient preference and adherence.

Complementation of a pathogenic IFNGR 2 misfolding mutation with modifi ers of N-glycosylation

J. Casanova, C. Picard, J. Puck, 2008 .

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

C. Bodemer, V. Ugo, K. Briot, 2014, Seminars in arthritis and rheumatism.

It’s long-term, well it’s for life basically: Understanding and exploring the burden of immunoglobulin treatment in patients with primary immunodeficiency disorders

N. Mahlaoui, Georgina L Jones, E. Hajdukova, 2021, Qualitative Research in Medicine and Healthcare.

Defective functions of polymorphonuclear neutrophils in patients with common variable immunodeficiency

S. Kaveri, N. Mahlaoui, J. Bayry, 2014, Immunologic Research.

Prolonged Remission of Azole-Resistant Lung Aspergillosis with Olorofim, in an Adolescent with X-Linked Chronic Granulomatous Disease

N. Mahlaoui, M. Bougnoux, R. Lévy, 2023, Journal of Clinical Immunology.

High rates of antiretroviral coverage and virological suppression in HIV-1-infected children and adolescents.

N. Mahlaoui, P. Frange, S. Blanche, 2019, Medecine et maladies infectieuses.

Excess mortality and hospitalizations in transitional-age youths with a long-term disease: A national population-based cohort study

P. Durieux, A. Rachas, B. Falissard, 2018, PloS one.

Toward a transitional care from childhood and adolescence to adulthood in surgical neurooncology? A lesson from the Necker-Enfants Malades and the Sainte-Anne Hospitals collaboration.

P. Varlet, S. Puget, N. Mahlaoui, 2021, Journal of Neurosurgery: Pediatrics.

Nocardiosis Associated with Primary Immunodeficiencies (Nocar-DIP): an International Retrospective Study and Literature Review

A. Fischer, S. Holland, D. Lebeaux, 2020, Journal of Clinical Immunology.

The burden of common variable immunodeficiency disorders Plasma Protein Therapeutics Association (PPTA) Taskforce; Odnoletkova,

S. Ehl, K. Bogaerts, N. Mahlaoui, 2018 .

The burden of common variable immunodeficiency disorders Plasma Protein Therapeutics Association (PPTA) Taskforce

S. Ehl, K. Bogaerts, N. Mahlaoui, 2018 .

Impact of graft function on health status and quality of life in 112 very long-term survivors who received an HSCT for Inborn Errors of Immunity, a prospective study of the CEREDIH.

A. Fischer, P. Auquier, C. Picard, 2023, Transplantation and cellular therapy.

Infections chez le patient splénectomisé.

N. Mahlaoui, O. Lortholary, Marc Lecuit, 2008 .

[Infections in splenectomized patient].

N. Mahlaoui, O. Lortholary, Marc Lecuit, 2008, La Revue du praticien.

Activated Phosphoinositide 3-Kinase δ Syndrome: Update from the ESID Registry and comparison with other autoimmune-lymphoproliferative inborn errors of immunity.

A. Schulz, V. Lougaris, A. Plebani, 2023, Journal of Allergy and Clinical Immunology.

The PID Odyssey 2030: outlooks, unmet needs, hurdles, and opportunities — proceedings from the IPOPI global multi-stakeholders’ summit (June 2022)

S. Sánchez-Ramón, Samya Van Coillie, N. Mahlaoui, 2023, Frontiers in immunology.

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

J. Casanova, C. Picard, J. Puck, 2008, The Journal of experimental medicine.

Combined liver and hematopoietic stem cell transplantation in patients with X-linked hyper-IgM syndrome.

T. Torgerson, A. Gennery, P. Veys, 2019, The Journal of allergy and clinical immunology.

Ribosomal Protein SA Haploinsufficiency in Humans with Isolated Congenital Asplenia

A. Plebani, C. Picard, A. Abhyankar, 2013, Science.

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

A. Fischer, E. Cirillo, A. Plebani, 2011, Blood.

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

N. Mahlaoui, Y. Bertrand, A. Thiébaut, 2012, The Journal of antimicrobial chemotherapy.

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

J. Puck, N. Mahlaoui, A. Alcaïs, 2008, The Journal of experimental medicine.

Autoantibodies against type I IFNs in humans with alternative NF-κB pathway deficiency

J. Derisi, F. Rieux-Laucat, J. Fellay, 2023, Nature.

ESID 2014 ORAL PRESENTATIONS

A. Gennery, N. Mahlaoui, B. Neven, 2014, Journal of Clinical Immunology.

Newborn screening as a fully integrated system to stimulate equity in neonatal screening in Europe

N. Mahlaoui, J. Bonham, I. Meyts, 2022, The Lancet regional health. Europe.

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

N. Mahlaoui, J. Pedespan, B. Neven, 2011, The Journal of allergy and clinical immunology.

[Chronic granulomatous disease: pathogenesis and therapy of associated fungal infections].

A. Fischer, N. Mahlaoui, P. Frange, 2012, Medecine sciences : M/S.

Laronidase for Cardiopulmonary Disease in Hurler Syndrome 12 Years After Bone Marrow Transplantation

A. Fischer, N. Mahlaoui, P. de Lonlay, 2010, Pediatrics.

Allogeneic stem cell transplantation compared to conservative management in adults with inborn errors of immunity.

A. Fischer, N. Mahlaoui, I. Durieu, 2022, Blood.