Wiskott-Aldrich syndrome: a comprehensive review
Massaad, Michel J., Ramesh, Narayanaswamy, Geha, Raif S.
Published in Annals of the New York Academy of Sciences (01.05.2013)
Published in Annals of the New York Academy of Sciences (01.05.2013)
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Severe allergic dysregulation due to a gain of function mutation in the transcription factor STAT6
Baris, Safa, Benamar, Mehdi, Chen, Qian, Catak, Mehmet Cihangir, Martínez-Blanco, Mónica, Wang, Muyun, Fong, Jason, Massaad, Michel J., Sefer, Asena Pinar, Kara, Altan, Babayeva, Royala, Eltan, Sevgi Bilgic, Yucelten, Ayse Deniz, Bozkurtlar, Emine, Cinel, Leyla, Karakoc-Aydiner, Elif, Zheng, Yumei, Wu, Hao, Ozen, Ahmet, Schmitz-Abe, Klaus, Chatila, Talal A.
Published in Journal of allergy and clinical immunology (01.07.2023)
Published in Journal of allergy and clinical immunology (01.07.2023)
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A missense mutation in TFRC, encoding transferrin receptor 1, causes combined immunodeficiency
Jabara, Haifa H, Boyden, Steven E, Chou, Janet, Ramesh, Narayanaswamy, Massaad, Michel J, Benson, Halli, Bainter, Wayne, Fraulino, David, Rahimov, Fedik, Sieff, Colin, Liu, Zhi-Jian, Alshemmari, Salem H, Al-Ramadi, Basel K, Al-Dhekri, Hasan, Arnaout, Rand, Abu-Shukair, Mohammad, Vatsayan, Anant, Silver, Eli, Ahuja, Sanjay, Davies, E Graham, Sola-Visner, Martha, Ohsumi, Toshiro K, Andrews, Nancy C, Notarangelo, Luigi D, Fleming, Mark D, Al-Herz, Waleed, Kunkel, Louis M, Geha, Raif S
Published in Nature genetics (01.01.2016)
Published in Nature genetics (01.01.2016)
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Regulatory T-cell deficiency and immune dysregulation, polyendocrinopathy, enteropathy, X-linked–like disorder caused by loss-of-function mutations in LRBA
Charbonnier, Louis-Marie, PhD, Janssen, Erin, MD, PhD, Chou, Janet, MD, Ohsumi, Toshiro K., PhD, Keles, Sevgi, MD, Hsu, Joyce T., MD, Massaad, Michel J., PhD, Garcia-Lloret, Maria, MD, Hanna-Wakim, Rima, MD, Dbaibo, Ghassan, MD, Alangari, Abdullah A., MD, Alsultan, Abdulrahman, MD, Al-Zahrani, Daifulah, MD, Geha, Raif S., MD, Chatila, Talal A., MD, MSc
Published in Journal of allergy and clinical immunology (01.01.2015)
Published in Journal of allergy and clinical immunology (01.01.2015)
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LPS-responsive beige-like anchor ( LRBA ) gene mutation in a family with inflammatory bowel disease and combined immunodeficiency
Alangari, Abdullah, MD, Alsultan, Abdulrahman, MD, Adly, Nouran, BSc, Massaad, Michel J., PhD, Kiani, Iram Shakir, MD, Aljebreen, Abdulrahman, MD, Raddaoui, Emad, MD, Almomen, Abdul-Kareem, MD, Al-Muhsen, Saleh, MD, Geha, Raif S., MD, Alkuraya, Fowzan S., MD
Published in Journal of allergy and clinical immunology (01.08.2012)
Published in Journal of allergy and clinical immunology (01.08.2012)
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A novel primary human immunodeficiency due to deficiency in the WASP-interacting protein WIP
Lanzi, Gaetana, Moratto, Daniele, Vairo, Donatella, Masneri, Stefania, Delmonte, Ottavia, Paganini, Tiziana, Parolini, Silvia, Tabellini, Giovanna, Mazza, Cinzia, Savoldi, Gianfranco, Montin, Davide, Martino, Silvana, Tovo, Pierangelo, Pessach, Itai M, Massaad, Michel J, Ramesh, Narayanaswamy, Porta, Fulvio, Plebani, Alessandro, Notarangelo, Luigi D, Geha, Raif S, Giliani, Silvia
Published in The Journal of experimental medicine (16.01.2012)
Published in The Journal of experimental medicine (16.01.2012)
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Journal Article
A systematic analysis of recombination activity and genotype-phenotype correlation in human recombination-activating gene 1 deficiency
Lee, Yu Nee, PhD, Frugoni, Francesco, PhD, Dobbs, Kerry, BS, Walter, Jolan E., MD, PhD, Giliani, Silvia, PhD, Gennery, Andrew R., MD, Al-Herz, Waleed, MD, Haddad, Elie, MD, PhD, LeDeist, Francoise, MD, PhD, Bleesing, Jack H., MD, PhD, Henderson, Lauren A., MD, Pai, Sung-Yun, MD, Nelson, Robert P., MD, El-Ghoneimy, Dalia H., MD, El-Feky, Reem A., MD, Reda, Shereen M., MD, PhD, Hossny, Elham, MD, PhD, Soler-Palacin, Pere, MD, Fuleihan, Ramsay L., MD, Patel, Niraj C., MD, Massaad, Michel J., PhD, Geha, Raif S., MD, Puck, Jennifer M., MD, Palma, Paolo, MD, Cancrini, Caterina, MD, Chen, Karin, MD, Vihinen, Mauno, PhD, Alt, Frederick W., PhD, Notarangelo, Luigi D., MD
Published in Journal of allergy and clinical immunology (01.04.2014)
Published in Journal of allergy and clinical immunology (01.04.2014)
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Comprehensive Genetic Results for Primary Immunodeficiency Disorders in a Highly Consanguineous Population
Al-Herz, Waleed, Chou, Janet, Delmonte, Ottavia Maria, Massaad, Michel J, Bainter, Wayne, Castagnoli, Riccardo, Klein, Christoph, Bryceson, Yenan T, Geha, Raif S, Notarangelo, Luigi D
Published in Frontiers in immunology (15.01.2019)
Published in Frontiers in immunology (15.01.2019)
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Error analysis and reliability of zero-order Lamb mode inversion for waveguide characterization
Sabbadini, A., Massaad, J., van Neer, P.L.M.J., de Jong, N., Verweij, M.D.
Published in Ultrasonics (01.07.2022)
Published in Ultrasonics (01.07.2022)
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Diagnosis and Treatment of a Patient With Severe Combined Immunodeficiency Due to a Novel Homozygous Mutation in the IL-7Rα Chain
Mansour, Rana, Bsat, Yasmin El, Fadel, Anthony, El-Orfali, Youmna, Noun, Dolly, Tarek, Nidale, Kabbara, Nabil, Abboud, Miguel, Massaad, Michel J
Published in Frontiers in immunology (28.03.2022)
Published in Frontiers in immunology (28.03.2022)
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Journal Article
A homozygous mucosa-associated lymphoid tissue 1 ( MALT1 ) mutation in a family with combined immunodeficiency
Jabara, Haifa H., BSc, Ohsumi, Toshiro, PhD, Chou, Janet, MD, Massaad, Michel J., PhD, Benson, Halli, BSc, Megarbane, Andre, MD, PhD, Chouery, Eliane, PhD, Mikhael, Raymond, MD, Gorka, Oliver, MD, Gewies, Andreas, PhD, Portales, Pierre, MD, Nakayama, Toshinori, MD, PhD, Hosokawa, Hiroyuki, PhD, Revy, Patrick, PhD, Herrod, Henry, MD, Le Deist, Francoise, MD, PhD, Lefranc, Gerard, PhD, Ruland, Jürgen, MD, Geha, Raif S., MD
Published in Journal of allergy and clinical immunology (01.07.2013)
Published in Journal of allergy and clinical immunology (01.07.2013)
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Journal Article
The Rho GTPase Cdc42 Is Essential for the Activation and Function of Mature B Cells
Gerasimcik, Natalija, Dahlberg, Carin I M, Baptista, Marisa A P, Massaad, Michel J, Geha, Raif S, Westerberg, Lisa S, Severinson, Eva
Published in The Journal of immunology (1950) (15.05.2015)
Published in The Journal of immunology (1950) (15.05.2015)
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Journal Article
The Lack of WIP Binding to Actin Results in Impaired B Cell Migration and Altered Humoral Immune Responses
Keppler, Selina Jessica, Burbage, Marianne, Gasparrini, Francesca, Hartjes, Lara, Aggarwal, Shweta, Massaad, Michel J., Geha, Raif S., Bruckbauer, Andreas, Batista, Facundo D.
Published in Cell reports (Cambridge) (17.07.2018)
Published in Cell reports (Cambridge) (17.07.2018)
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Epidermodysplasia verruciformis as a manifestation of ARTEMIS deficiency in a young adult
Tahiat, Azzedine, PharmD, Badran, Yousef R., MD, Chou, Janet, MD, Cangemi, Brittney, BSc, Lefranc, Gerard, PhD, Labgaa, Zakaria-Merouane, MD, Oussalam, Salma, MD, Kaddouri-Slimani, Assia, MD, PhD, Belarbi, Ayad, MD, PhD, Bendissari-Bouzid, Kheira, MD, PhD, Gharnaout, Merzak, MD, PhD, Geha, Raif S., MD, Djidjik, Réda, PharmD, PhD, Massaad, Michel J., PhD
Published in Journal of allergy and clinical immunology (01.01.2017)
Published in Journal of allergy and clinical immunology (01.01.2017)
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Journal Article
Recurrent viral infections associated with a homozygous CORO1A mutation that disrupts oligomerization and cytoskeletal association
Yee, Christina S., MD, PhD, Massaad, Michel J., PhD, Bainter, Wayne, BA, Ohsumi, Toshiro K., PhD, Föger, Niko, PhD, Chan, Andrew C., MD, PhD, Akarsu, Nurten A., MD, Aytekin, Caner, MD, Ayvaz, Deniz Çagdas, MD, PhD, Tezcan, Ilhan, MD, PhD, Sanal, Özden, MD, Geha, Raif S., MD, Chou, Janet, MD
Published in Journal of allergy and clinical immunology (01.03.2016)
Published in Journal of allergy and clinical immunology (01.03.2016)
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Journal Article
B cell–intrinsic deficiency of the Wiskott-Aldrich syndrome protein (WASp) causes severe abnormalities of the peripheral B-cell compartment in mice
Recher, Mike, Burns, Siobhan O., de la Fuente, Miguel A., Volpi, Stefano, Dahlberg, Carin, Walter, Jolan E., Moffitt, Kristin, Mathew, Divij, Honke, Nadine, Lang, Philipp A., Patrizi, Laura, Falet, Hervé, Keszei, Marton, Mizui, Masayuki, Csizmadia, Eva, Candotti, Fabio, Nadeau, Kari, Bouma, Gerben, Delmonte, Ottavia M., Frugoni, Francesco, Fomin, Angela B. Ferraz, Buchbinder, David, Lundequist, Emma Maria, Massaad, Michel J., Tsokos, George C., Hartwig, John, Manis, John, Terhorst, Cox, Geha, Raif S., Snapper, Scott, Lang, Karl S., Malley, Richard, Westerberg, Lisa, Thrasher, Adrian J., Notarangelo, Luigi D.
Published in Blood (22.03.2012)
Published in Blood (22.03.2012)
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Journal Article
Flow cytometry diagnosis of dedicator of cytokinesis 8 (DOCK8) deficiency
Pai, Sung-Yun, MD, de Boer, Helen, BSc, Massaad, Michel J., PhD, Chatila, Talal A., MD, Keles, Sevgi, MD, Jabara, Haifa H., BS, Janssen, Erin, MD, PhD, Lehmann, Leslie E., MD, Hanna-Wakim, Rima, MD, Dbaibo, Ghassan, MD, McDonald, Douglas R., MD, PhD, Al-Herz, Waleed, MD, Geha, Raif S., MD
Published in Journal of allergy and clinical immunology (01.07.2014)
Published in Journal of allergy and clinical immunology (01.07.2014)
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Journal Article
Chronic mucocutaneous candidiasis associated with an SH2 domain gain-of-function mutation that enhances STAT1 phosphorylation
Sobh, Ali, MD, Chou, Janet, MD, Schneider, Lynda, MD, Geha, Raif S., MD, Massaad, Michel J., PhD
Published in Journal of allergy and clinical immunology (01.07.2016)
Published in Journal of allergy and clinical immunology (01.07.2016)
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Journal Article
T-cell receptor ligation causes Wiskott-Aldrich syndrome protein degradation and F-actin assembly downregulation
Watanabe, Yuko, MD, PhD, Sasahara, Yoji, MD, PhD, Ramesh, Narayanaswamy, PhD, Massaad, Michel J., PhD, Yeng Looi, Chung, PhD, Kumaki, Satoru, MD, PhD, Kure, Shigeo, MD, PhD, Geha, Raif S., MD, Tsuchiya, Shigeru, MD, PhD
Published in Journal of allergy and clinical immunology (01.09.2013)
Published in Journal of allergy and clinical immunology (01.09.2013)
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