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The genetic heterogeneity of mendelian susceptibility to mycobacterial diseases
The genetic heterogeneity of mendelian susceptibility to mycobacterial diseases
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The genetic heterogeneity of mendelian susceptibility to mycobacterial diseases

Al-Muhsen, Saleh, MD ; Casanova, Jean-Laurent, MD, PhD

Journal of allergy and clinical immunology, 2008-12, Vol.122 (6), p.1043-1051 [Periódico revisado por pares]

New York, NY: Mosby, Inc

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2
Human genetic and immunological determinants of SARS‐CoV‐2 and Epstein–Barr virus diseases in childhood: Insightful contrasts
Human genetic and immunological determinants of SARS‐CoV‐2 and Epstein–Barr virus diseases in childhood: Insightful contrasts
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Human genetic and immunological determinants of SARS‐CoV‐2 and Epstein–Barr virus diseases in childhood: Insightful contrasts

Pan‐Hammarström, Qiang ; Casanova, Jean‐Laurent

Journal of internal medicine, 2023-08, Vol.294 (2), p.127-144 [Periódico revisado por pares]

England: Blackwell Publishing Ltd

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3
A novel kindred with inherited STAT2 deficiency and severe viral illness
A novel kindred with inherited STAT2 deficiency and severe viral illness
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A novel kindred with inherited STAT2 deficiency and severe viral illness

Moens, Leen, PhD ; Van Eyck, Lien, MSc, MD ; Jochmans, Dirk, PhD ; Mitera, Tania, BSc ; Frans, Glynis, MPharm ; Bossuyt, Xavier, MD, PhD ; Matthys, Patrick, PhD ; Neyts, Johan, PhD ; Ciancanelli, Michael, PhD ; Zhang, Shen-Ying, MD, PhD ; Gijsbers, Rik, PhD ; Casanova, Jean-Laurent, MD, PhD ; Boisson-Dupuis, Stephanie, PhD ; Meyts, Isabelle, MD, PhD ; Liston, Adrian, PhD

Journal of allergy and clinical immunology, 2017-06, Vol.139 (6), p.1995-1997.e9 [Periódico revisado por pares]

United States: Elsevier Inc

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4
De novo gain-of-function KCNT1 channel mutations cause malignant migrating partial seizures of infancy
De novo gain-of-function KCNT1 channel mutations cause malignant migrating partial seizures of infancy
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De novo gain-of-function KCNT1 channel mutations cause malignant migrating partial seizures of infancy

BARCIA, Giulia ; FLEMING, Matthew R ; NITSCHKE, Patrick ; KAMINSKA, Anna ; BODDAERT, Nathalie ; CASANOVA, Jean-Laurent ; DESGUERRE, Isabelle ; MUNNICH, Arnold ; DULAC, Olivier ; KACZMAREK, Leonard K ; COLLEAUX, Laurence ; NABBOUT, Rima ; DELIGNIERE, Aline ; GAZULA, Valeswara-Rao ; BROWN, Maile R ; LANGOUET, Maeva ; HAIJUN CHEN ; KRONENGOLD, Jack ; ABHYANKAR, Avinash ; CILIO, Roberta

Nature genetics, 2012-11, Vol.44 (11), p.1255-1259 [Periódico revisado por pares]

New York, NY: Nature Publishing Group

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5
Primary immunodeficiency diseases: An update from the International Union of Immunological Societies Primary Immunodeficiency Diseases Classification Committee
Primary immunodeficiency diseases: An update from the International Union of Immunological Societies Primary Immunodeficiency Diseases Classification Committee
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Primary immunodeficiency diseases: An update from the International Union of Immunological Societies Primary Immunodeficiency Diseases Classification Committee

Geha, Raif S., MD (Cochair) ; Notarangelo, Luigi D., MD (Cochair) ; Casanova, Jean-Laurent, MD ; Chapel, Helen, MD ; Conley, Mary Ellen, MD ; Fischer, Alain, MD ; Hammarström, Lennart, MD ; Nonoyama, Shigeaki, MD ; Ochs, Hans D., MD ; Puck, Jennifer M., MD ; Roifman, Chaim, MD ; Seger, Reinhard, MD ; Wedgwood, Josiah, MD

Journal of allergy and clinical immunology, 2007-10, Vol.120 (4), p.776-794 [Periódico revisado por pares]

United States: Mosby, Inc

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6
Genetic errors of the human caspase recruitment domain–B-cell lymphoma 10–mucosa-associated lymphoid tissue lymphoma-translocation gene 1 (CBM) complex: Molecular, immunologic, and clinical heterogeneity
Genetic errors of the human caspase recruitment domain–B-cell lymphoma 10–mucosa-associated lymphoid tissue lymphoma-translocation gene 1 (CBM) complex: Molecular, immunologic, and clinical heterogeneity
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Genetic errors of the human caspase recruitment domain–B-cell lymphoma 10–mucosa-associated lymphoid tissue lymphoma-translocation gene 1 (CBM) complex: Molecular, immunologic, and clinical heterogeneity

Pérez de Diego, Rebeca, PhD ; Sánchez-Ramón, Silvia, MD, PhD ; López-Collazo, Eduardo, PhD ; Martínez-Barricarte, Rubén, PhD ; Cubillos-Zapata, Carolina, PhD ; Ferreira Cerdán, Antonio, MD, PhD ; Casanova, Jean-Laurent, MD, PhD ; Puel, Anne, PhD

Journal of allergy and clinical immunology, 2015-11, Vol.136 (5), p.1139-1149 [Periódico revisado por pares]

United States: Elsevier Inc

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7
Primary immunodeficiencies: 2009 update
Primary immunodeficiencies: 2009 update
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Primary immunodeficiencies: 2009 update

Notarangelo, Luigi D., MD ; Fischer, Alain, MD ; Geha, Raif S., MD ; Casanova, Jean-Laurent, MD ; Chapel, Helen, MD ; Conley, Mary Ellen, MD ; Cunningham-Rundles, Charlotte, MD, PhD ; Etzioni, Amos, MD ; Hammartröm, Lennart, MD ; Nonoyama, Shigeaki, MD ; Ochs, Hans D., MD ; Puck, Jennifer, MD ; Roifman, Chaim, MD ; Seger, Reinhard, MD ; Wedgwood, Josiah, MD, PhD

Journal of allergy and clinical immunology, 2009-12, Vol.124 (6), p.1161-1178 [Periódico revisado por pares]

New York, NY: Mosby, Inc

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8
Molecular mechanisms of mucocutaneous immunity against Candida and Staphylococcus species
Molecular mechanisms of mucocutaneous immunity against Candida and Staphylococcus species
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Molecular mechanisms of mucocutaneous immunity against Candida and Staphylococcus species

Maródi, László, MD, PhD ; Cypowyj, Sophie, PhD ; Tóth, Beáta, PhD ; Chernyshova, Liudmyla, MD, PhD ; Puel, Anne, PhD ; Casanova, Jean-Laurent, MD, PhD

Journal of allergy and clinical immunology, 2012-11, Vol.130 (5), p.1019-1027 [Periódico revisado por pares]

New York, NY: Elsevier Inc

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9
Genome-Wide Association Study Identifies Variants Associated With Progression of Liver Fibrosis From HCV Infection
Genome-Wide Association Study Identifies Variants Associated With Progression of Liver Fibrosis From HCV Infection
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Genome-Wide Association Study Identifies Variants Associated With Progression of Liver Fibrosis From HCV Infection

Patin, Etienne ; Kutalik, Zoltán ; Guergnon, Julien ; Bibert, Stéphanie ; Nalpas, Bertrand ; Jouanguy, Emmanuelle ; Munteanu, Mona ; Bousquet, Laurence ; Argiro, Laurent ; Halfon, Philippe ; Boland, Anne ; Müllhaupt, Beat ; Semela, David ; Dufour, Jean–François ; Heim, Markus H ; Moradpour, Darius ; Cerny, Andreas ; Malinverni, Raffaele ; Hirsch, Hans ; Martinetti, Gladys ; Suppiah, Vijayaprakash ; Stewart, Graeme ; Booth, David R ; George, Jacob ; Casanova, Jean–Laurent ; Bréchot, Christian ; Rice, Charles M ; Talal, Andrew H ; Jacobson, Ira M ; Bourlière, Marc ; Theodorou, Ioannis ; Poynard, Thierry ; Negro, Francesco ; Pol, Stanislas ; Bochud, Pierre–Yves ; Abel, Laurent

Gastroenterology (New York, N.Y. 1943), 2012-11, Vol.143 (5), p.1244-1252.e12 [Periódico revisado por pares]

United States: Elsevier Inc

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10
A Patient with Tyrosine Kinase 2 Deficiency without Hyper-IgE Syndrome
A Patient with Tyrosine Kinase 2 Deficiency without Hyper-IgE Syndrome
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A Patient with Tyrosine Kinase 2 Deficiency without Hyper-IgE Syndrome

Kilic, Sara S., MD ; Hacimustafaoglu, Mustafa, MD ; Boisson-Dupuis, Stéphanie, PhD ; Kreins, Alexandra Y., MD ; Grant, Audrey V., PhD ; Abel, Laurent, MD, PhD ; Casanova, Jean-Laurent, MD, PhD

The Journal of pediatrics, 2012-06, Vol.160 (6), p.1055-1057 [Periódico revisado por pares]

Maryland Heights, MO: Mosby, Inc

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