Novel CARMIL2 (RLTPR) Mutation Presenting with Hyper-IgE and Eosinophilia: A Case Report
Zamani, Raha, Zoghi, Samaneh, Shahkarami, Sepideh, Seyedpour, Simin, Jimenez Heredia, Raúl, Boztug, Kaan, Rezaei, Nima
Published in Endocrine, metabolic & immune disorders drug targets (01.01.2024)
Published in Endocrine, metabolic & immune disorders drug targets (01.01.2024)
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Journal Article
Severe congenital neutropenia due to G6PC3 deficiency: early and delayed phenotype of a patient
Moradian, Negar, Zoghi, Samaneh, Rayzan, Elham, Seyedpour, Simin, Jimenez Heredia, Raul, Boztug, Kaan, Rezaei, Nima
Published in Allergy, asthma, and clinical immunology (09.06.2023)
Published in Allergy, asthma, and clinical immunology (09.06.2023)
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Journal Article
A novel X-linked mutation in IL2RG associated with early-onset inflammatory bowel disease: a case report of twin brothers
Rayzan, Elham, Sadeghalvad, Mona, Shahkarami, Sepideh, Zoghi, Samaneh, Aryan, Zahra, Mahdaviani, Seyed Alireza, Boztug, Kaan, Rezaei, Nima
Published in Journal of medical case reports (18.07.2023)
Published in Journal of medical case reports (18.07.2023)
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Journal Article
A novel homozygous RAG1 mutation is associated with severe combined immunodeficiency and neurological presentations
Melika, Shafeghat, Hossein, Esmaeilzadeh, Mona, Sadeghalvad, Elham, Rayzan, Samaneh, Zoghi, Sepideh, Shahkarami, Raul Jimenez, Heredia, Ana, Krolo, Kaan, Boztug, Nima, Rezaei
Published in Allergologia et immunopathologia (01.01.2021)
Published in Allergologia et immunopathologia (01.01.2021)
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Journal Article
Novel DNMT3B Mutation in a Patient with Immunodeficiency, Centromeric Instability, and Facial Anomalies (ICF) Syndrome and a Bronchopulmonary Collateral Artery
Aminorroaya, Arya, Rayzan, Elham, Shahkarami, Sepideh, Seyedpour, Simin, Zoghi, Samaneh, Aryan, Zahra, Somekh, Ido, Rohlfs, Meino, Klein, Christoph, Esmaeilzadeh, Hossein, Rezaei, Nima
Published in Endocrine, metabolic & immune disorders drug targets (01.01.2023)
Published in Endocrine, metabolic & immune disorders drug targets (01.01.2023)
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Journal Article
Survey for asymptomatic malaria cases in low transmission settings of Iran under elimination programme
Zoghi, Samaneh, Mehrizi, Akram A, Raeisi, Ahmad, Haghdoost, Ali A, Turki, Habibollah, Safari, Reza, Kahanali, Asadallah Ahmadi, Zakeri, Sedigheh
Published in Malaria journal (25.04.2012)
Published in Malaria journal (25.04.2012)
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Journal Article
Germline biallelic mutation affecting the transcription factor Helios causes pleiotropic defects of immunity
Shahin, Tala, Kuehn, Hye Sun, Shoeb, Mohamed R, Gawriyski, Lisa, Giuliani, Sarah, Repiscak, Peter, Hoeger, Birgit, Yüce Petronczki, Özlem, Bal, Sevgi Köstel, Zoghi, Samaneh, Dmytrus, Jasmin, Seruggia, Davide, Castanon, Irinka, Rezaei, Nima, Varjosalo, Markku, Halbritter, Florian, Rosenzweig, Sergio D, Boztug, Kaan
Published in Science immunology (26.11.2021)
Published in Science immunology (26.11.2021)
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BCGitis as the primary manifestation of chronic granulomatous disease
Khalili, Nastaran, Mohammadzadeh, Iraj, Khalili, Neda, Heredia, Raúl Jimenez, Zoghi, Samaneh, Boztug, Kaan, Rezaei, Nima
Published in IDCases (01.01.2021)
Published in IDCases (01.01.2021)
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Journal Article
Association of the Single Nucleotide Polymorphisms of the Genes Encoding IL-2 and IFN-γ With Febrile Seizure
Shahrokhi, Amin, Zare-Shahabadi, Ameneh, Naeimi Poor, Mohammad, Sajedi, Firouzeh, Soltani, Samaneh, Zoghi, Samaneh, Shervin Badv, Reza, Ashrafi, Mahmoud Reza, Rezaei, Nima
Published in Acta medica Iranica (01.06.2017)
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Published in Acta medica Iranica (01.06.2017)
Journal Article
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 transmission
Zakeri, Sedigheh, Mehrizi, Akram A, Zoghi, Samaneh, Djadid, Navid D
Published in Malaria journal (16.09.2010)
Published in Malaria journal (16.09.2010)
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Journal Article
Efficiency of Nested-PCR in Detecting Asymptomatic Cases toward Malaria Elimination Program in an Endemic Area of Iran
Turki, Habibollah, Raeisi, Ahmad, Malekzadeh, Kianoosh, Ghanbarnejad, Amin, Zoghi, Samaneh, Yeryan, Masoud, Abedi Nejad, Masoumeh, Mohseni, Fatemeh, Shekari, Mohammad
Published in Iranian journal of parasitology (01.01.2015)
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Published in Iranian journal of parasitology (01.01.2015)
Journal Article
Borderless collaboration is needed for COVID-19-A disease that knows no borders
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
Published in Infection Control & Hospital Epidemiology (01.10.2020)
Published in Infection Control & Hospital Epidemiology (01.10.2020)
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Journal Article
Hypomorphic DOCK8 deletion causes hypereosinophilic syndrome
Aryan, Zahra, Nabavi, Mohammad, Shabani, Mahsima, Keles, Sevgi, Zoghi, Samaneh, Chatila, Talal, Rezaei, Nima
Published in Pediatric blood & cancer (01.02.2020)
Published in Pediatric blood & cancer (01.02.2020)
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Journal Article
Curation and expansion of Human Phenotype Ontology for defined groups of inborn errors of immunity
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
Published in Journal of allergy and clinical immunology (01.01.2022)
Published in Journal of allergy and clinical immunology (01.01.2022)
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Journal Article
Human DOCK11 Deficiency Causes Defective Erythropoiesis and Systemic Inflammation
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
Published in Blood (28.11.2023)
Published in Blood (28.11.2023)
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Journal Article
Biallelic NFATC1 mutations cause an inborn error of immunity with impaired CD8+ T-cell function and perturbed glycolysis
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
Published in Blood (31.08.2023)
Published in Blood (31.08.2023)
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Journal Article
Systemic Inflammation and Normocytic Anemia in DOCK11 Deficiency
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
Published in The New England journal of medicine (10.08.2023)
Published in The New England journal of medicine (10.08.2023)
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Journal Article
A recessive form of hyper-IgE syndrome by disruption of ZNF341-dependent STAT3 transcription and activity
Béziat, Vivien, Li, Juan, Lin, Jian-Xin, Ma, Cindy S, Li, Peng, Bousfiha, Aziz, Pellier, Isabelle, Zoghi, Samaneh, Baris, Safa, Keles, Sevgi, Gray, Paul, Du, Ning, Wang, Yi, Zerbib, Yoann, Lévy, Romain, Leclercq, Thibaut, About, Frédégonde, Lim, Ai Ing, Rao, Geetha, Payne, Kathryn, Pelham, Simon J, Avery, Danielle T, Deenick, Elissa K, Pillay, Bethany, Chou, Janet, Guery, Romain, Belkadi, Aziz, Guérin, Antoine, Migaud, Mélanie, Rattina, Vimel, Ailal, Fatima, Benhsaien, Ibtihal, Bouaziz, Matthieu, Habib, Tanwir, Chaussabel, Damien, Marr, Nico, El-Benna, Jamel, Grimbacher, Bodo, Wargon, Orli, Bustamante, Jacinta, Boisson, Bertrand, Müller-Fleckenstein, Ingrid, Fleckenstein, Bernhard, Chandesris, Marie-Olivia, Titeux, Matthias, Fraitag, Sylvie, Alyanakian, Marie-Alexandra, Leruez-Ville, Marianne, Picard, Capucine, Meyts, Isabelle, Di Santo, James P, Hovnanian, Alain, Somer, Ayper, Ozen, Ahmet, Rezaei, Nima, Chatila, Talal A, Abel, Laurent, Leonard, Warren J, Tangye, Stuart G, Puel, Anne, Casanova, Jean-Laurent
Published in Science immunology (15.06.2018)
Published in Science immunology (15.06.2018)
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