Zobrazeno 1 - 10 of 18 pro vyhledávání: '"Majid Changi-Ashtiani"'
1
Akademický článek
Familial Hemophagocytic Lymphohistiocytosis secondary to UNC13D mutation: a report of two cases
Autor: Payman Sadeghi, Golnaz Ghazizadeh Esslami, Hassan Rokni-Zadeh, Majid Changi-Ashtiani, Reihaneh Mohsenipour
Publikováno v: BMC Pediatrics, Vol 22, Iss 1, Pp 1-6 (2022)
Abstract Background Hemophagocytic lymphohistiocytosis (HLH) is a life-threatening disease characterized by some clinical signs (e.g., non-remitting fever, hepatosplenomegaly) and laboratory findings (e.g., cytopenia, increased ferritin level, hypofi
Externí odkaz: https://doaj.org/article/ee55f422fdc14bd685c425f2b55b26af
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2
Akademický článek
Exome-first Approach Identified Novel Homozygous Dedicator of Cytokinesis 8 (DOCK8) Mutations in Three Unrelated Iranian Pedigrees Suspected with Hyper-IgE Syndrome
Autor: Ali Aghebati-Maleki, Tina Shahani, Tooba Momen, Soheila Alyasin, Majid Changi-Ashtiani, Alireza Biglari, Mohammad Shahrooei, Asiyeh Sadat Javanian, Suzan Amini, Xavier Bossuyt, Hassan Rokni-Zadeh
Publikováno v: Iranian Journal of Allergy, Asthma and Immunology, Vol 19, Iss 2 (2020)
The prevalence of primary immunodeficiency (PID) is rather high in Iran compared to the world average, mainly due to the high rate of consanguineous marriage. Despite that, little genetic information is available about primary immunodeficiencies in I
Externí odkaz: https://doaj.org/article/5ffb2e8fd5ad4e0f9dd2ee4b24478699
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3
Akademický článek
A Novel Non-frameshift ADA Deletion Detected by Whole Exome Sequencing in an Iranian Family with Severe Combined Immunodeficiency
Autor: Taravat Talebi, Alireza Biglari, Mohammad Shahroeei, Majid Changi-Ashtiani, Hossein Dinmohammadi, Shadi Sadat Navabi, Nima Parvaneh, Xavier Bossuyt, Tina Shahani, Hassan Rokni-Zadeh
Publikováno v: Iranian Journal of Allergy, Asthma and Immunology, Vol 19, Iss 1 (2020)
Severe combined immunodeficiency (SCID) comprises a heterogeneous group of genetic disorders caused by early defects in the development and function of T cells. Other lymphocyte lineages (B and/or natural killer cells) are variably affected. With a w
Externí odkaz: https://doaj.org/article/25733ff347694435b9b970dd526aa7ab
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4
Human germline heterozygous gain-of-function STAT6 variants cause severe allergic disease
Autor: Mehul Sharma, Daniel Leung, Mana Momenilandi, Lauren C.W. Jones, Lucia Pacillo, Alyssa E. James, Jill R. Murrell, Selket Delafontaine, Jesmeen Maimaris, Maryam Vaseghi-Shanjani, Kate L. Del Bel, Henry Y. Lu, Gilbert T. Chua, Silvia Di Cesare, Oriol Fornes, Zhongyi Liu, Gigliola Di Matteo, Maggie P. Fu, Donato Amodio, Issan Yee San Tam, Gavin Shueng Wai Chan, Ashish A. Sharma, Joshua Dalmann, Robin van der Lee, Géraldine Blanchard-Rohner, Susan Lin, Quentin Philippot, Phillip A. Richmond, Jessica J. Lee, Allison Matthews, Michael Seear, Alexandra K. Turvey, Rachael L. Philips, Terri F. Brown-Whitehorn, Christopher J. Gray, Kosuke Izumi, James R. Treat, Kathleen H. Wood, Justin Lack, Asya Khleborodova, Julie E. Niemela, Xingtian Yang, Rui Liang, Lin Kui, Christina Sze Man Wong, Grace Wing Kit Poon, Alexander Hoischen, Caspar I. van der Made, Jing Yang, Koon Wing Chan, Jaime Sou Da Rosa Duque, Pamela Pui Wah Lee, Marco Hok Kung Ho, Brian Hon Yin Chung, Huong Thi Minh Le, Wanling Yang, Pejman Rohani, Ali Fouladvand, Hassan Rokni-Zadeh, Majid Changi-Ashtiani, Mohammad Miryounesi, Anne Puel, Mohammad Shahrooei, Andrea Finocchi, Paolo Rossi, Beatrice Rivalta, Cristina Cifaldi, Antonio Novelli, Chiara Passarelli, Stefania Arasi, Dominique Bullens, Kate Sauer, Tania Claeys, Catherine M. Biggs, Emma C. Morris, Sergio D. Rosenzweig, John J. O’Shea, Wyeth W. Wasserman, H. Melanie Bedford, Clara D.M. van Karnebeek, Paolo Palma, Siobhan O. Burns, Isabelle Meyts, Jean-Laurent Casanova, Jonathan J. Lyons, Nima Parvaneh, Anh Thi Van Nguyen, Caterina Cancrini, Jennifer Heimall, Hanan Ahmed, Margaret L. McKinnon, Yu Lung Lau, Vivien Béziat, Stuart E. Turvey
Publikováno v: Journal of Experimental Medicine, 220
Journal of Experimental Medicine, 220, 5
STAT6 (signal transducer and activator of transcription 6) is a transcription factor that plays a central role in the pathophysiology of allergic inflammation. We have identified 16 patients from 10 families spanning three continents with a profound
Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::9c287d6bde4f6efb981c86aed42d1504
https://hdl.handle.net/2066/290791
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6
Inherited IFNAR1 deficiency in otherwise healthy patients with adverse reaction to measles and yellow fever live vaccines
Autor: Stephen J. Seligman, Serkan Belkaya, Ruben Pholien, Ismail Reisli, Johan Neyts, Yoann Seeleuthner, Leen Moens, Afshin Shirkani, Scott Drutman, Charles M. Rice, Lazaro Lorenzo-Diaz, Isabelle Meyts, Margaret R. MacDonald, Emersom Ciclini Mesquita, Dick Zijlmans, Denise Cristina de Souza Matos, Nicholas Hernandez, Sheila Maria Barbosa de Lima, Maria de Lourdes de Sousa Maia, Alain Lefevre-Utile, Dirk Jochmans, Paul J. Hertzog, Tamiris Azamor da Costa Barros, Marilda M. Siqueira, Esra Hazar Sayar, Hans Heinrich Hoffmann, Xavier Bossuyt, Nico Marr, Qian Zhang, Patrícia Mouta Nunes de Oliveira, Laura Pöyhönen, Emmanuelle Jouanguy, Giorgia Bucciol, Andrea Jurado, Shen-Ying Zhang, Aurélie Cobat, Robbert Boudewijns, Hassan Rokni-Zadeh, Jérémie Le Pen, Ekaterini Goudouris, Rik Gijsbers, Ian Tietjen, Chibuzo U Enemchukwu, Reinaldo de Menezes Martins, Laurent Abel, Majid Changi-Ashtiani, Jean-Laurent Casanova, Mohammad Shahrooei, Mana Momenilandi, Akira Homma
Publikováno v: The Journal of Experimental Medicine
We describe two unrelated patients with inherited IFNAR1 deficiency who suffered from life-threatening infections following measles or yellow fever virus vaccination and were otherwise healthy.
Vaccination against measles, mumps, and rubella (MM
Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::29c7d0d119bcc109db3ca81f5b0b44cd
https://doi.org/10.1084/jem.20182295
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7
Whole Exome Sequencing Revealed a Novel GJB1 Pathogenic Variant and a Rare BSCL2 Mutation in Two Iranian Large Pedigrees with Multiple Affected Cases of Charcot-Marie-Tooth
Autor: Neda, Mohsenpour, Hassan, Roknizadeh, Mehdi, Maghbooli, Majid, Changi-Ashtiani, Mohammad, Shahrooei, Mansoor, Salehi, Mahdiyeh, Behnam, Tina, Shahani, Alireza, Biglari
Publikováno v: International Journal of Molecular and Cellular Medicine
Charcot-Marie-Tooth disease (CMT) is the most common hereditary neuropathy of the peripheral nervous system with a wide range of severity and age of onset. CMT patients share similar phenotypes which make it often impossible to identify the disease t
Externí odkaz: https://explore.openaire.eu/search/publication?articleId=pmid________::f44c066a67af437e1ee2de534dee862f
https://pubmed.ncbi.nlm.nih.gov/32489946
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8
Exome-first Approach Identified Novel Homozygous Dedicator of Cytokinesis 8 (DOCK8) Mutations in Three Unrelated Iranian Pedigrees Suspected with Hyper-IgE Syndrome
Autor: Mohammad Shahrooei, Majid Changi-Ashtiani, Ali Aghebati-Maleki, Tooba Momen, Xavier Bossuyt, Alireza Biglari, Suzan Amini, Hassan Rokni-Zadeh, Tina Shahani, Soheila Alyasin, Asiyeh Sadat Javanian
Publikováno v: Iranian Journal of Allergy, Asthma and Immunology, Vol 19, Iss 2 (2020)
The prevalence of primary immunodeficiency (PID) is rather high in Iran compared to the world average, mainly due to the high rate of consanguineous marriage. Despite that, little genetic information is available about primary immunodeficiencies in I
Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::9416842c2bb4ce3fc7b0657c8434f96b
https://doi.org/10.18502/ijaai.v19i2.2772
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9
A Novel Non-frameshift ADA Deletion Detected by Whole Exome Sequencing in an Iranian Family with Severe Combined Immunodeficiency
Autor: Nima Parvaneh, Taravat Talebi, Majid Changi-Ashtiani, Xavier Bossuyt, Hossein Dinmohammadi, Mohammad Shahroeei, Hassan Rokni-Zadeh, Shadi Sadat Navabi, Tina Shahani, Alirezai Biglari
Publikováno v: Iranian Journal of Allergy, Asthma and Immunology, Vol 19, Iss 1 (2020)
Severe combined immunodeficiency (SCID) comprises a heterogeneous group of genetic disorders caused by early defects in the development and function of T cells. Other lymphocyte lineages (B and/or natural killer cells) are variably affected. With a w
Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::c2e628561573140ed88e2ae02b61ceb6
https://ijaai.tums.ac.ir/index.php/ijaai/article/view/2364
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10
Functional Evaluation of an IKBKG Variant Suspected to Cause Immunodeficiency Without Ectodermal Dysplasia
Autor: Leen Moens, Glynis Frans, Mohammad Shahrooei, Greet Wuyts, Isabelle Meyts, Majid Changi-Ashtiani, Hassan Rokni-Zadeh, Xavier Bossuyt, Rik Gijsbers, Jutte van der Werff ten Bosch
Publikováno v: Journal of Clinical Immunology. 37:801-810
Hypomorphic IKBKG mutations in males are typically associated with anhidrotic ectodermal dysplasia with immunodeficiency (EDA-ID). Some mutations cause immunodeficiency without EDA (NEMO-ID). The immunological profile associated with these NEMO-ID va
Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::c1528d9562ea46a22cc8955608ce8ff7
https://doi.org/10.1007/s10875-017-0448-9
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