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37 results for Autoimmune+Lymphoproliferative+Syndrome+-+genetics

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Defective glycosylation and multisystem abnormalities characterize the primary immunodeficiency XMEN disease
Author / Creator:Ravell, Juan C. ; Matsuda-Lennikov, Mami ; Chauvin, Samuel D. ; Zou, Juan ; Biancalana, Matthew ; Deeb, Sally J. ; Price, Susan ; Su, Helen C. ; Notarangelo, Giulia ; Jiang, Ping ; Morawski, Aaron ; Kanellopoulou, Chrysi ; Binder, Kyle ; Mukherjee, Ratnadeep ; Anibal, James T. ; Sellers, Brian ; Zheng, Lixin ; He, Tingyan ; George, Alex B. ; Pittaluga, Stefania ; Powers, Astin ; Kleiner, David E. ; Kapuria, Devika ; Ghany, Marc ; Hunsberger, Sally ; Cohen, Jeffrey I. ; Uzel, Gulbu ; Bergerson, Jenna ; Wolfe, Lynne ; Toro, Camilo ; Gahl, William ; Folio, Les R. ; Matthews, Helen ; Angelus, Pam ; Chinn, Ivan K. ; Orange, Jordan S. ; Trujillo-Vargas, Claudia M. ; Franco, Jose Luis ; Orrego-Arango, Julio ; Gutiérrez-Hincapié, Sebastian ; Patel, Niraj Chandrakant ; Raymond, Kimiyo ; Patiroglu, Turkan ; Unal, Ekrem ; Karakukcu, Musa ; Day, Alexandre G.R. ; Mehta, Pankaj ; Masutani, Evan ; De Ravin, Suk S. ; Malech, Harry L. ; Altan-Bonnet, Grégoire ; Rao, V. Koneti ; Mann, Matthias ; Lenardo, Michael J.
Publisher:United States: American Society for Clinical Investigation
Journal title:The Journal of clinical investigation, 2020-01, Vol.130 (1), p.507-522
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ALPS, FAS, and beyond: from inborn errors of immunity to acquired immunodeficiencies
Author / Creator:Consonni, Filippo ; Gambineri, Eleonora ; Favre, Claudio
Publisher:Berlin/Heidelberg: Springer Berlin Heidelberg
Journal title:Annals of hematology, 2022-03, Vol.101 (3), p.469-484
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The Fas–FADD death domain complex structure reveals the basis of DISC assembly and disease mutations
Author / Creator:Wang, Liwei ; Yang, Jin Kuk ; Kabaleeswaran, Venkataraman ; Rice, Amanda J ; Cruz, Anthony C ; Park, Ah Young ; Yin, Qian ; Damko, Ermelinda ; Jang, Se Bok ; Raunser, Stefan ; Robinson, Carol V ; Siegel, Richard M ; Walz, Thomas ; Wu, Hao
Publisher:New York: Nature Publishing Group US
Journal title:Nature structural & molecular biology, 2010-11, Vol.17 (11), p.1324-1329
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Novel Germline TET2 Mutations in Two Unrelated Patients with Autoimmune Lymphoproliferative Syndrome-Like Phenotype and Hematologic Malignancy
Author / Creator:López-Nevado, Marta ; Ortiz-Martín, Javier ; Serrano, Cristina ; Pérez-Saez, María A. ; López-Lorenzo, José L. ; Gil-Etayo, Francisco J. ; Rodríguez-Frías, Edgar ; Cabrera-Marante, Oscar ; Morales-Pérez, Pablo ; Rodríguez-Pinilla, María S. ; Manso, Rebeca ; Salgado-Sánchez, Rocío N. ; Cerdá-Montagud, Ana ; Quesada-Espinosa, Juan F. ; Gómez-Rodríguez, María J. ; Paz-Artal, Estela ; Muñoz-Calleja, Cecilia ; Arranz-Sáez, Reyes ; Allende, Luis M.
Publisher:New York: Springer US
Journal title:Journal of clinical immunology, 2023-01, Vol.43 (1), p.165-180
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Autoimmune lymphoproliferative syndrome (ALPS) due to a novel dominant negative germline mutation in the FAS gene
Author / Creator:Rodríguez-Bayona, Beatriz ; Lucena-Soto, José Manuel ; Croché-Santander, Borja ; Olbrich, Peter ; González-Escribano, María Francisca ; Neth, Olaf
Publisher:New York: Springer US
Journal title:Immunologic research, 2024-02, Vol.72 (1), p.162-166
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Novel Compound Heterozygous Variants in the FAS Gene Lead to Fetal Onset of Autoimmune Lymphoproliferative Syndrome (ALPS)
Author / Creator:Wu, Qi ; Sun, Bijun ; Hou, Jia ; Hui, Xiaoying ; Wang, Chenghao ; Wang, Wenjie ; Ying, Wenjing ; Liu, Luyao ; Zhu, Li ; Wang, Ying ; Li, Qifan ; Yu, Meiping ; Zhou, Weitao ; Chen, Yao ; Wu, Bingbing ; Sun, Jinqiao ; Zhou, Qinhua ; Qian, Feng ; Wang, Xiaochuan
Publisher:New York: Springer US
Journal title:Journal of clinical immunology, 2025-12, Vol.45 (1), p.23-23, Article 23
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PAMI Syndrome: Two Cases of an Autoinflammatory Disease with an ALPS-Like Phenotype
Author / Creator:Cox, Fionnuala ; Bigley, Venetia ; Irvine, Alan ; Leahy, Ronan ; Conlon, Niall
Publisher:New York: Springer US
Journal title:Journal of clinical immunology, 2022-07, Vol.42 (5), p.955-958
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Study of the potential role of CASPASE-10 mutations in the development of autoimmune lymphoproliferative syndrome
Author / Creator:Consonni, Filippo ; Moreno, Solange ; Vinuales Colell, Blanca ; Stolzenberg, Marie-Claude ; Fernandes, Alicia ; Parisot, Mélanie ; Masson, Cécile ; Neveux, Nathalie ; Rosain, Jérémie ; Bamberger, Sarah ; Vigue, Marie-Gabrielle ; Malphettes, Marion ; Quartier, Pierre ; Picard, Capucine ; Rieux-Laucat, Frédéric ; Magerus, Aude
Publisher:London: Nature Publishing Group UK
Journal title:Cell death & disease, 2024-05, Vol.15 (5), p.315-315, Article 315
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Genetic Testing in Patients with Autoimmune Lymphoproliferative Syndrome: Experience of 802 Patients at Cincinnati Children’s Hospital Medical Center
Author / Creator:Xu, Xinxiu ; Denton, James ; Wu, Yaning ; Liu, Jie ; Guan, Qiaoning ; Dawson, D. Brian ; Bleesing, Jack ; Zhang, Wenying
Publisher:New York: Springer US
Journal title:Journal of clinical immunology, 2024-10, Vol.44 (7), p.166-166, Article 166
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Case report: Synergistic defects of CASP10 and BTK leading to autoimmune lymphoproliferative syndrome type IIa, complicated by severe hemophagocytic lymphohistiocytosis
Author / Creator:Zhang, Weijie ; Li, Yiyang ; Tian, Chuan ; Huang, Si ; Chen, Lidan ; Wang, Yajun ; Ma, Guoda ; Chen, Riling
Publisher:New York: Springer US
Journal title:Immunologic research, 2023-08, Vol.71 (4), p.663-669
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Phenotypic Variability in PRKCD: a Review of the Literature
Author / Creator:Jefferson, Lucy ; Ramanan, Athimalaipet Vaidyanathan ; Jolles, Stephen ; Bernatoniene, Jolanta ; Mathieu, Anne-Laure ; Belot, Alexandre ; Roderick, Marion Ruth
Publisher:New York: Springer US
Journal title:Journal of clinical immunology, 2023-11, Vol.43 (8), p.1692-1705
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Severe RAS-Associated Lymphoproliferative Disease Case with Increasing αβ Double-Negative T Cells with Atypical Features
Author / Creator:Kurita, Daisuke ; Shiba, Norio ; Ohya, Takashi ; Murase, Ayako ; Shimosato, Yuko ; Yoshitomi, Masahiro ; Hattori, Seira ; Sasaki, Koji ; Nishimura, Kenichi ; Tsujimoto, Shin-ichi ; Takeuchi, Masanobu ; Tanoshima, Reo ; Kanegane, Hirokazu ; Kitagawa, Norihiko ; Ito, Shuichi
Publisher:New York: Springer US
Journal title:Journal of clinical immunology, 2023-11, Vol.43 (8), p.1992-1996
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Onset of autoimmune lymphoproliferative syndrome (ALPS) in humans as a consequence of genetic defect accumulation
Author / Creator:Magerus-Chatinet, Aude ; Neven, Bénédicte ; Stolzenberg, Marie-Claude ; Daussy, Cécile ; Arkwright, Peter D. ; Lanzarotti, Nina ; Schaffner, Catherine ; Cluet-Dennetiere, Sophie ; Haerynck, Filomeen ; Michel, Gérard ; Bole-Feysot, Christine ; Zarhrate, Mohammed ; Radford-Weiss, Isabelle ; Romana, Serge P. ; Picard, Capucine ; Fischer, Alain ; Rieux-Laucat, Frédéric
Publisher:United States: American Society for Clinical Investigation
Journal title:The Journal of clinical investigation, 2011-01, Vol.121 (1), p.106-112
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Autoimmune Lymphoproliferative Syndrome: an Update and Review of the Literature
Author / Creator:Shah, Shaili ; Wu, Eveline ; Rao, V. Koneti ; Tarrant, Teresa K.
Publisher:Boston: Springer US
Journal title:Current allergy and asthma reports, 2014-09, Vol.14 (9), p.462-462, Article 462
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Revisiting double-negative T cells in autoimmune lymphoproliferative immunodeficiencies: a case series
Author / Creator:Jamee, Mahnaz ; Sharafian, Samin ; Eslami, Narges ; Namazi Bayegi, Shideh ; Keramatipour, Mohammad ; Nabavi, Mohamad ; Shokri, Sima ; Shakiba, Marjan ; Shamsian, Bibi Shahin ; Abolghasemi, Hassan ; Vahidshahi, Kurosh ; Khanbabaee, Ghamartaj ; Armin, Shahnaz ; Chavoshzadeh, Zahra ; Mesdaghi, Mehrnaz
Publisher:Singapore: Codon Publications
Journal title:Allergologia et immunopathologia, 2024-01, Vol.52 (5), p.6-14
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Sirolimus is effective in autoimmune lymphoproliferative syndrome-type III: A pedigree case report with homozygous variation PRKCD
Author / Creator:Gu, Hao ; Chen, Zhenping ; Ma, Jie ; Wang, Jing ; Zhang, Rui ; Wu, Runhui ; Wang, Tianyou
Publisher:London, England: SAGE Publications
Journal title:International journal of immunopathology and pharmacology, 2021, Vol.35, p.20587384211025934-20587384211025934
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Caspase-8 Deficiency Presenting as Late-Onset Multi-Organ Lymphocytic Infiltration with Granulomas in two Adult Siblings
Author / Creator:Niemela, Julie ; Kuehn, Hye Sun ; Kelly, Corin ; Zhang, Mingchang ; Davies, Joie ; Melendez, Jose ; Dreiling, Jennifer ; Kleiner, David ; Calvo, Katherine ; Oliveira, João B. ; Rosenzweig, Sergio D.
Publisher:New York: Springer US
Journal title:Journal of clinical immunology, 2015-05, Vol.35 (4), p.348-355
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A FAS-ligand variant associated with autoimmune lymphoproliferative syndrome in cats
Author / Creator:Aberdein, Danielle ; Munday, John S. ; Gandolfi, Barbara ; Dittmer, Keren E. ; Malik, Richard ; Garrick, Dorian J. ; Lyons, Leslie A.
Publisher:New York: Springer US
Journal title:Mammalian genome, 2017-02, Vol.28 (1-2), p.47-55
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Potentially Beneficial Effect of Hydroxychloroquine in a Patient with a Novel Mutation in Protein Kinase Cδ Deficiency
Author / Creator:Kiykim, Ayca ; Ogulur, Ismail ; Baris, Safa ; Salzer, Elisabeth ; Karakoc-Aydiner, Elif ; Ozen, Ahmet Oguzhan ; Garncarz, Wojciech ; Hirschmugl, Tatjana ; Krolo, Ana ; Yucelten, Ayse Deniz ; Boztug, Kaan ; Barlan, Isil B
Publisher:New York: Springer US
Journal title:Journal of clinical immunology, 2015-08, Vol.35 (6), p.523-526
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Lipopolysaccharide Responsive Beige-like Anchor Protein Deficiency in a Patient with Autoimmune Lymphoproliferative Syndrome-like Disease Phenotype: A Case Report and Literature Review
Author / Creator:Fetyan, Saja ; Sakrani, Nida Fatima ; Yassin, Fawwaz ; Abdallah, Mohammad Fahad ; Elzein, Naser ; Azizi, Gholamreza ; ElGhazali, Gehad
Publisher:Tehran: Tehran University of Medical Sciences
Journal title:Iranian journal of allergy, asthma, and immunology, 2022-04, Vol.21 (2), p.219
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Showing 1 to 20 of 37 results

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Defective glycosylation and multisystem abnormalities characterize the primary immunodeficiency XMEN disease

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ALPS, FAS, and beyond: from inborn errors of immunity to acquired immunodeficiencies

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The Fas–FADD death domain complex structure reveals the basis of DISC assembly and disease mutations

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Novel Germline TET2 Mutations in Two Unrelated Patients with Autoimmune Lymphoproliferative Syndrome-Like Phenotype and Hematologic Malignancy

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Autoimmune lymphoproliferative syndrome (ALPS) due to a novel dominant negative germline mutation in the FAS gene

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Novel Compound Heterozygous Variants in the FAS Gene Lead to Fetal Onset of Autoimmune Lymphoproliferative Syndrome (ALPS)

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PAMI Syndrome: Two Cases of an Autoinflammatory Disease with an ALPS-Like Phenotype

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Study of the potential role of CASPASE-10 mutations in the development of autoimmune lymphoproliferative syndrome

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Genetic Testing in Patients with Autoimmune Lymphoproliferative Syndrome: Experience of 802 Patients at Cincinnati Children’s Hospital Medical Center

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Case report: Synergistic defects of CASP10 and BTK leading to autoimmune lymphoproliferative syndrome type IIa, complicated by severe hemophagocytic lymphohistiocytosis

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Phenotypic Variability in PRKCD: a Review of the Literature

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Severe RAS-Associated Lymphoproliferative Disease Case with Increasing αβ Double-Negative T Cells with Atypical Features

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Onset of autoimmune lymphoproliferative syndrome (ALPS) in humans as a consequence of genetic defect accumulation

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Autoimmune Lymphoproliferative Syndrome: an Update and Review of the Literature

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Revisiting double-negative T cells in autoimmune lymphoproliferative immunodeficiencies: a case series

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Sirolimus is effective in autoimmune lymphoproliferative syndrome-type III: A pedigree case report with homozygous variation PRKCD

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Caspase-8 Deficiency Presenting as Late-Onset Multi-Organ Lymphocytic Infiltration with Granulomas in two Adult Siblings

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A FAS-ligand variant associated with autoimmune lymphoproliferative syndrome in cats

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Potentially Beneficial Effect of Hydroxychloroquine in a Patient with a Novel Mutation in Protein Kinase Cδ Deficiency

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Lipopolysaccharide Responsive Beige-like Anchor Protein Deficiency in a Patient with Autoimmune Lymphoproliferative Syndrome-like Disease Phenotype: A Case Report and Literature Review

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