Jean-Laurent Casanova Selected Research

Lymphopenia (Lymphocytopenia)

12/2018	Biallelic mutations in DNA ligase 1 underlie a spectrum of immune deficiencies.
11/2018	T-cell defects in patients with ARPC1B germline mutations account for combined immunodeficiency.
1/2017	Clinical spectrum and features of activated phosphoinositide 3-kinase δ syndrome: A large patient cohort study.
9/2012	Human RHOH deficiency causes T cell defects and susceptibility to EV-HPV infections.
7/2012	Autosomal dominant STAT3 deficiency and hyper-IgE syndrome: molecular, cellular, and clinical features from a French national survey.
12/2006	Familial NK cell deficiency associated with impaired IL-2- and IL-15-dependent survival of lymphocytes.

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Jean-Laurent Casanova Research Topics

Disease

102	Infections 05/2024 - 02/2002
72	COVID-19 04/2024 - 01/2020
46	Pneumonia (Pneumonitis) 04/2024 - 07/2012
33	Virus Diseases (Viral Diseases) 05/2024 - 03/2003
21	Tuberculosis (Tuberculoses) 01/2022 - 07/2003
19	Chronic Mucocutaneous Candidiasis 01/2023 - 02/2010
17	Inflammation (Inflammations) 01/2023 - 11/2005
15	Chronic Granulomatous Disease 01/2022 - 03/2002
14	Ectodermal Dysplasia (Aplasia Cutis Congenita) 01/2018 - 10/2002
13	Encephalitis (Encephalitis, Rasmussen) 10/2023 - 12/2006
12	Candidiasis (Moniliasis) 05/2024 - 06/2011
12	Communicable Diseases (Infectious Diseases) 05/2024 - 06/2003
9	Bacterial Infections (Bacterial Infection) 05/2024 - 10/2003
9	Salmonella Infections (Salmonellosis) 08/2021 - 02/2002
8	Autoimmune Diseases (Autoimmune Disease) 03/2024 - 11/2008
8	hypohidrotic Ectodermal dysplasia with immune deficiency 01/2018 - 06/2002
7	Critical Illness (Critically Ill) 12/2023 - 01/2021
7	Human Influenza (Influenza) 01/2023 - 04/2015
7	Mycoses (Diseases, Fungus) 01/2020 - 08/2005
7	Job Syndrome (Hyper-IgE Syndrome) 01/2020 - 09/2012
6	COVID-19 related pediatric multisystem inflammatory disease 10/2023 - 10/2021
6	Severe Combined Immunodeficiency (Bare Lymphocyte Syndrome) 01/2020 - 01/2006
6	Psoriasis (Pustulosis Palmaris et Plantaris) 01/2019 - 08/2011
6	Lymphopenia (Lymphocytopenia) 12/2018 - 12/2006
5	Atopic Dermatitis (Atopic Eczema) 06/2024 - 09/2015
5	Eosinophilia 01/2023 - 07/2012
5	Asthma (Bronchial Asthma) 01/2023 - 12/2005
5	autosomal recessive Candidiasis familial chronic mucocutaneous 01/2023 - 12/2012
5	Hypersensitivity (Allergy) 01/2023 - 12/2005
5	Herpes Simplex Encephalitis (Herpes Encephalitis) 01/2016 - 12/2008
4	Agammaglobulinemia (Hypogammaglobulinemia) 10/2023 - 01/2005
4	Inborn Genetic Diseases (Disease, Hereditary) 01/2023 - 10/2002
4	Inflammatory Bowel Diseases (Inflammatory Bowel Disease) 01/2023 - 11/2013
4	Reinfection 01/2023 - 01/2018
4	Tyrosine Kinase 2 Deficiency 10/2022 - 06/2012
4	Neoplasms (Cancer) 01/2022 - 05/2008
4	Incontinentia Pigmenti (Bloch Sulzberger Syndrome) 01/2021 - 10/2002
4	IRAK4 Deficiency 01/2021 - 12/2006
4	Abscess 01/2017 - 01/2008
4	Intellectual Disability (Idiocy) 05/2015 - 06/2010
4	Sepsis (Septicemia) 11/2009 - 04/2004
3	Autoimmune Polyendocrinopathies (Schmidt Syndrome) 11/2023 - 06/2011
3	Lymphadenopathy 01/2023 - 03/2009
3	Myocarditis (Carditis) 10/2022 - 04/2017
3	Cytokine Release Syndrome 01/2022 - 01/2018
3	Yellow Fever 01/2021 - 01/2016
3	Primary Immunodeficiency Diseases 01/2020 - 05/2005
3	Invasive Fungal Infections 01/2020 - 10/2013

Drug/Important Bio-Agent (IBA)

62	AutoantibodiesIBA 05/2024 - 01/2004
42	Interferon Type IIBA 05/2024 - 06/2007
33	InterferonsIBA 04/2024 - 08/2005
29	CytokinesIBA 05/2024 - 12/2004
27	Proteins (Proteins, Gene)FDA Link 04/2024 - 02/2004
23	Interleukin-12 (IL 12)IBA 10/2022 - 02/2002
21	Interleukin-17 (Interleukin 17)IBA 05/2024 - 02/2010
21	VaccinesIBA 06/2022 - 07/2003
17	AntibodiesIBA 12/2023 - 11/2008
16	NF-kappa B (NF-kB)IBA 01/2023 - 06/2002
15	Antiviral Agents (Antivirals)IBA 01/2023 - 12/2007
11	Interferon-gamma (Interferon, gamma)IBA 05/2024 - 01/2004
11	Immunoglobulin E (IgE)IBA 01/2023 - 12/2005
10	Interleukin-12 Receptors (Interleukin 12 Receptor)IBA 01/2019 - 06/2003
9	Interleukin-23 (Interleukin 23)IBA 01/2023 - 02/2008
9	BCG Vaccine FDA Link 01/2023 - 01/2013
8	Interleukin-12 Subunit p40IBA 01/2023 - 12/2005
8	NADPH Oxidases (NAD(P)H oxidase)IBA 01/2021 - 08/2008
8	InterleukinsIBA 01/2020 - 08/2005
7	Interleukin-6 (Interleukin 6)IBA 05/2024 - 01/2008
7	Toll-Like Receptor 3IBA 01/2023 - 09/2010
7	Interferon LambdaIBA 01/2023 - 06/2007
7	Phosphotransferases (Kinase)IBA 01/2019 - 04/2004
7	Interleukin-1 Receptors (Interleukin 1 Receptor)IBA 01/2017 - 12/2003
7	Interferon gamma ReceptorIBA 09/2010 - 03/2003
6	Complement System Proteins (Complement)IBA 05/2024 - 12/2003
6	RNA (Ribonucleic Acid)IBA 11/2023 - 01/2018
6	Toll-Like Receptors (Toll-Like Receptor)IBA 11/2023 - 12/2006
6	AntigensIBA 10/2022 - 04/2004
6	Immunoglobulin G (IgG)IBA 10/2020 - 01/2008
6	STAT1 Transcription FactorIBA 01/2020 - 01/2005
6	Anti-Bacterial Agents (Antibiotics)IBA 07/2015 - 02/2002
5	Granulocyte-Macrophage Colony-Stimulating Factor (GM-CSF)IBA 05/2024 - 01/2018
5	Neutralizing AntibodiesIBA 12/2023 - 01/2022
5	Biomarkers (Surrogate Marker)IBA 01/2022 - 11/2005
4	Interleukin-27 (Interleukin 27)IBA 03/2024 - 06/2009
4	Transcription Factors (Transcription Factor)IBA 01/2023 - 02/2004
4	Interleukin-10 (Interleukin 10)IBA 01/2023 - 03/2009
4	Tumor Necrosis Factor-alpha (Tumor Necrosis Factor)IBA 10/2021 - 10/2003
4	Tuberculin (PPD)IBA 01/2021 - 11/2009
4	Codon (Codons)IBA 09/2012 - 06/2002
4	NF-KappaB Inhibitor alphaIBA 07/2006 - 10/2003
3	DNA (Deoxyribonucleic Acid)IBA 01/2024 - 11/2018
3	ruxolitinibIBA 12/2023 - 10/2020
3	Interleukin-13IBA 01/2022 - 04/2016
3	Immunoglobulin M (IgM)IBA 01/2022 - 05/2003
3	Attenuated VaccinesIBA 01/2021 - 01/2019
3	Reactive Oxygen Species (Oxygen Radicals)IBA 01/2021 - 05/2014

Therapy/Procedure

19	Therapeutics 11/2023 - 02/2003
5	Hematopoietic Stem Cell Transplantation 01/2018 - 04/2006
4	Transplantation 01/2018 - 07/2006
3	Critical Care (Surgical Intensive Care) 01/2022 - 11/2021