Severe congenital neutropenia due to G6PC3 deficiency: early and delayed phenotype of a patient von Moradian, Negar, Zoghi, Samaneh, Rayzan, Elham, Seyedpour, Simin, Jimenez Heredia, Raul, Boztug, Kaan, Rezaei, Nima

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A novel homozygous RAG1 mutation is associated with severe combined immunodeficiency and neurological presentations von Melika, Shafeghat, Hossein, Esmaeilzadeh, Mona, Sadeghalvad, Elham, Rayzan, Samaneh, Zoghi, Sepideh, Shahkarami, Raul Jimenez, Heredia, Ana, Krolo, Kaan, Boztug, Nima, Rezaei

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A novel X-linked mutation in IL2RG associated with early-onset inflammatory bowel disease: a case report of twin brothers von Rayzan, Elham, Sadeghalvad, Mona, Shahkarami, Sepideh, Zoghi, Samaneh, Aryan, Zahra, Mahdaviani, Seyed Alireza, Boztug, Kaan, Rezaei, Nima

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Whole Exome Sequencing Could Help to Distinguish Between Pediatric Systemic Lupus Erythematosus and Primary Immunodeficiency Disease von Zoghi, Samaneh, Rezaei, Nima

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Survey for asymptomatic malaria cases in low transmission settings of Iran under elimination programme von Zoghi, Samaneh, Mehrizi, Akram A, Raeisi, Ahmad, Haghdoost, Ali A, Turki, Habibollah, Safari, Reza, Kahanali, Asadallah Ahmadi, Zakeri, Sedigheh

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BCGitis as the primary manifestation of chronic granulomatous disease von Khalili, Nastaran, Mohammadzadeh, Iraj, Khalili, Neda, Heredia, Raúl Jimenez, Zoghi, Samaneh, Boztug, Kaan, Rezaei, Nima

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Non-Pathogenic Heterozygous Polymorphism in RAB27A Gene in a Case Suspicious to Griscelli Syndrome, Type II von Eghbali, Aziz, Rahmani, Farzaneh, Aryan, Zahra, Arndt Borkhardt, Tanzifi, Parin, Zoghi, Samaneh, Rezaei, Nima

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Association of the Single Nucleotide Polymorphisms of the Genes Encoding IL-2 and IFN-γ With Febrile Seizure von Shahrokhi, Amin, Zare-Shahabadi, Ameneh, Naeimi Poor, Mohammad, Sajedi, Firouzeh, Soltani, Samaneh, Zoghi, Samaneh, Shervin Badv, Reza, Ashrafi, Mahmoud Reza, Rezaei, Nima

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Non-variant specific antibody responses to the C-terminal region of merozoite surface protein-1 of Plasmodium falciparum (PfMSP-1(19)) in Iranians exposed to unstable malaria trans... von Zakeri, Sedigheh, Mehrizi, Akram A, Zoghi, Samaneh, Djadid, Navid D

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Efficiency of Nested-PCR in Detecting Asymptomatic Cases toward Malaria Elimination Program in an Endemic Area of Iran von Turki, Habibollah, Raeisi, Ahmad, Malekzadeh, Kianoosh, Ghanbarnejad, Amin, Zoghi, Samaneh, Yeryan, Masoud, Abedi Nejad, Masoumeh, Mohseni, Fatemeh, Shekari, Mohammad

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Heterozygous STAT1 gain-of-function mutations underlie an unexpectedly broad clinical phenotype von Toubiana, Julie, Okada, Satoshi, Hiller, Julia, Oleastro, Matias, Lagos Gomez, Macarena, Aldave Becerra, Juan Carlos, Ouachée-Chardin, Marie, Fouyssac, Fanny, Girisha, Katta Mohan, Etzioni, Amos, Van Montfrans, Joris, Camcioglu, Yildiz, Kerns, Leigh Ann, Belohradsky, Bernd, Blanche, Stéphane, Bousfiha, Aziz, Rodriguez-Gallego, Carlos, Meyts, Isabelle, Kisand, Kai, Reichenbach, Janine, Renner, Ellen D., Rosenzweig, Sergio, Grimbacher, Bodo, van de Veerdonk, Frank L., Traidl-Hoffmann, Claudia, Picard, Capucine, Marodi, Laszlo, Morio, Tomohiro, Kobayashi, Masao, Lilic, Desa, Milner, Joshua D., Holland, Steven, Casanova, Jean-Laurent, Puel, Anne

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Borderless collaboration is needed for COVID-19-A disease that knows no borders von Mohamed, Kawthar, Rodríguez-Román, Eduardo, Rahmani, Farzaneh, Zhang, Hongbo, Ivanovska, Mariya, Makka, Sara A, Joya, Musa, Makuku, Rangarirai, Islam, Md Shahidul, Radwan, Nesrine, Rahmah, Laila, Goda, Rayan, Abarikwu, Sunny O, Shaw, Mujtaba, Zoghi, Samaneh, Irtsyan, Sevan, Ling, Irene, Cseprekal, Orsolya, Faten, Attig-Bahar, Hazar Sayar, Esra, Soloukey, Chagajeg, Grancini, Giulia, Rezaei, Nima

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Extended clinical and immunological phenotype and transplant outcome in CD27 and CD70 deficiency von Ghosh, Sujal, Köstel Bal, Sevgi, Edwards, Emily S.J., Pillay, Bethany, Jiménez Heredia, Raúl, Erol Cipe, Funda, Rao, Geetha, Salzer, Elisabeth, Zoghi, Samaneh, Abolhassani, Hassan, Momen, Tooba, Gostick, Emma, Price, David A., Zhang, Yu, Oler, Andrew J., Gonzaga-Jauregui, Claudia, Erman, Baran, Metin, Ayse, Ilhan, Inci, Haskologlu, Sule, Islamoglu, Candan, Baskin, Kubra, Ceylaner, Serdar, Yilmaz, Ebru, Unal, Ekrem, Karakukcu, Musa, Berghuis, Dagmar, Cole, Theresa, Gupta, Aditya K., Hauck, Fabian, Kogler, Hubert, Hoepelman, Andy I.M., Baris, Safa, Karakoc-Aydiner, Elif, Ozen, Ahmet, Kager, Leo, Holzinger, Dirk, Paulussen, Michael, Krüger, Renate, Meisel, Roland, Oommen, Prasad T., Morris, Emma, Neven, Benedicte, Worth, Austen, van Montfrans, Joris, Fraaij, Pieter L.A., Choo, Sharon, Dogu, Figen, Davies, E. Graham, Burns, Siobhan, Dückers, Gregor, Becker, Ruy Perez, von Bernuth, Horst, Latour, Sylvain, Faraci, Maura, Gattorno, Marco, Su, Helen C., Pan-Hammarström, Qiang, Hammarström, Lennart, Lenardo, Michael J., Ma, Cindy S., Niehues, Tim, Aghamohammadi, Asghar, Rezaei, Nima, Ikinciogullari, Aydan, Tangye, Stuart G., Lankester, Arjan C., Boztug, Kaan

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Hypomorphic DOCK8 deletion causes hypereosinophilic syndrome von Aryan, Zahra, Nabavi, Mohammad, Shabani, Mahsima, Keles, Sevgi, Zoghi, Samaneh, Chatila, Talal, Rezaei, Nima

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Biallelic NFATC1 mutations cause an inborn error of immunity with impaired CD8+ T-cell function and perturbed glycolysis von Kostel Bal, Sevgi, Giuliani, Sarah, Block, Jana, Repiscak, Peter, Hafemeister, Christoph, Shahin, Tala, Kasap, Nurhan, Ransmayr, Bernhard, Miao, Yirun, van de Wetering, Cheryl, Frohne, Alexandra, Jimenez Heredia, Raul, Schuster, Michael, Zoghi, Samaneh, Hertlein, Vanessa, Thian, Marini, Bykov, Aleksandr, Babayeva, Royala, Bilgic Eltan, Sevgi, Karakoc-Aydiner, Elif, Shaw, Lisa E, Chowdhury, Iftekhar, Varjosalo, Markku, Argüello, Rafael J, Farlik, Matthias, Ozen, Ahmet, Serfling, Edgar, Dupré, Loïc, Bock, Christoph, Halbritter, Florian, Hannich, J Thomas, Castanon, Irinka, Kraakman, Michael J, Baris, Safa, Boztug, Kaan

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Curation and expansion of Human Phenotype Ontology for defined groups of inborn errors of immunity von Haimel, Matthias, Pazmandi, Julia, Heredia, Raúl Jiménez, Dmytrus, Jasmin, Bal, Sevgi Köstel, Zoghi, Samaneh, van Daele, Paul, Briggs, Tracy A., Wouters, Carine, Bader-Meunier, Brigitte, Aeschlimann, Florence A., Caorsi, Roberta, Eleftheriou, Despina, Hoppenreijs, Esther, Salzer, Elisabeth, Bakhtiar, Shahrzad, Derfalvi, Beata, Saettini, Francesco, Kusters, Maaike A.A., Elfeky, Reem, Trück, Johannes, Rivière, Jacques G., van der Burg, Mirjam, Gattorno, Marco, Seidel, Markus G., Burns, Siobhan, Warnatz, Klaus, Hauck, Fabian, Brogan, Paul, Gilmour, Kimberly C., Schuetz, Catharina, Simon, Anna, Bock, Christoph, Hambleton, Sophie, de Vries, Esther, Robinson, Peter N., van Gijn, Marielle, Boztug, Kaan

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Systemic Inflammation and Normocytic Anemia in DOCK11 Deficiency von Block, Jana, Rashkova, Christina, Castanon, Irinka, Zoghi, Samaneh, Platon, Jessica, Ardy, Rico C., Fujiwara, Mitsuhiro, Chaves, Beatriz, Schoppmeyer, Rouven, van der Made, Caspar I., Jimenez Heredia, Raul, Harms, Frederike L., Alavi, Samin, Alsina, Laia, Sanchez Moreno, Paula, Ávila Polo, Rainiero, Cabrera-Pérez, Rocío, Kostel Bal, Sevgi, Pfajfer, Laurène, Ransmayr, Bernhard, Mautner, Anna-Katharina, Kondo, Ryohei, Tinnacher, Anna, Caldera, Michael, Schuster, Michael, Domínguez Conde, Cecilia, Platzer, René, Salzer, Elisabeth, Boyer, Thomas, Brunner, Han G., Nooitgedagt-Frons, Judith E., Iglesias, Estíbaliz, Deyà-Martinez, Angela, Camacho-Lovillo, Marisol, Menche, Jörg, Bock, Christoph, Huppa, Johannes B., Pickl, Winfried F., Distel, Martin, Yoder, Jeffrey A., Traver, David, Engelhardt, Karin R., Linden, Tobias, Kager, Leo, Hannich, J. Thomas, Hoischen, Alexander, Hambleton, Sophie, Illsinger, Sabine, Da Costa, Lydie, Kutsche, Kerstin, Chavoshzadeh, Zahra, van Buul, Jaap D., Antón, Jordi, Calzada-Hernández, Joan, Neth, Olaf, Viaud, Julien, Nishikimi, Akihiko, Dupré, Loïc, Boztug, Kaan

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Human DOCK11 Deficiency Causes Defective Erythropoiesis and Systemic Inflammation von Block, Jana, Rashkova, Christina, Castanon, Irinka, Platon, Jessica, Zoghi, Samaneh, Fujiwara, Mitsuhiro, Chaves, Beatriz, Schoppmeyer, Rouven, Van Der Made, Caspar, Cabrera-Perez, Rocio, Harms, Frederike Leonie, Ardy, Rico Chandra, Alavi, Samin, Alsina, Laia, Avila Polo, Rainiero, Sanchez Moreno, Paula, Jimenez Heredia, Raul, Hannich, Thomas, Huppa, Johannes, Distel, Martin, Pickl, Winfried, Yoder, Jeffrey, Traver, David, Engelhardt, Karin, Linden, Tobias, Kager, Leo, Hambleton, Sophie, Hoischen, Alexander, Illsinger, Sabine, Chavoshzadeh, Zahra, Kutsche, Kerstin, Da Costa, Lydie, Van Buul, Jaap, Calzada-Hernandez, Joan, Anton, Jordi, Neth, Olaf, Viaud, Julien, Nishikimi, Akihiko, Dupre, Loic, Boztug, Kaan

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A Novel Recessive Mutation of Interferon-γ Receptor 1 in a Patient with Mycobacterium tuberculosis in Bone Marrow Aspirate von Shabani, Mahsima, Aleyasin, Soheila, Kashef, Sara, Zoghi, Samaneh, Deswarte, Caroline, Casanova, Jean-Laurent, Bustamante, Jacinta, Rezaei, Nima

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Systemic Inflammation and Normocytic Anemia in DOCK11 Deficiency von Block, Jana, Rashkova, Christina, Castanon, Irinka, Zoghi, Samaneh, Platon, Jessica, Ardy, Rico, Fujiwara, Mitsuhiro, Chaves, Beatriz, Schoppmeyer, Rouven, van der Made, Caspar, Jimenez Heredia, Raul, Harms, Frederike, Alavi, Samin, Alsina, Laia, Sanchez Moreno, Paula, Ávila Polo, Rainiero, Cabrera-Pérez, Rocío, Kostel Bal, Sevgi, Pfajfer, Laurène, Ransmayr, Bernhard, Mautner, Anna-Katharina, Kondo, Ryohei, Tinnacher, Anna, Caldera, Michael, Schuster, Michael, Domínguez Conde, Cecilia, Platzer, René, Salzer, Elisabeth, Boyer, Thomas, Brunner, Han, Nooitgedagt-Frons, Judith, Iglesias, Estíbaliz, Deyà-Martinez, Angela, Camacho-Lovillo, Marisol, Menche, Jörg, Bock, Christoph, Huppa, Johannes, Pickl, Winfried, Distel, Martin, Yoder, Jeffrey, Traver, David, Engelhardt, Karin, Linden, Tobias, Kager, Leo, Hannich, J. Thomas, Hoischen, Alexander, Hambleton, Sophie, Illsinger, Sabine, Da Costa, Lydie, Kutsche, Kerstin, Chavoshzadeh, Zahra, van Buul, Jaap, Antón, Jordi, Calzada-Hernández, Joan, Neth, Olaf, Viaud, Julien, Nishikimi, Akihiko, Dupré, Loïc, Boztug, Kaan

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