Confirmation of Hyperimmunoglobulin E Syndrome in Two Patients with an Ocular Problem: Detection of Two New DOCK8 Mutations

Autor: Shiva Saghafi, Fariborz Zandieh, Mohammad Reza Fazlollahi, Cristina Glocker, Natalie Frede, Mary Buchta, Linlin Yang, Amir Hossein Mahmoudi, Massoud Houshmand, Zahra Pourpak, Bodo Grimbacher, Mostafa Moin

Publikováno v: Iranian Journal of Allergy, Asthma and Immunology, Vol 21, Iss 3 (2022)

Early diagnosis of primary immunodeficiencies is crucial for timely treatment and preventing unwanted complications. Next-generation sequencing (NGS) and detailed clinical and immunological evaluation can help early detect such disorders. This study

Externí odkaz: https://doaj.org/article/bfb98de19e6a411b9c6755e881f353e2

The Diagnosis of Hyper Immunoglobulin E Syndrome Based on Project Management

Autor: Shiva Saghafi, Zahra Pourpak, Cristina Glocker, Franziska Nussbaumer, Abdolreza Babamahmoodi, Bodo Grimbacher, Mostafa Moin

Publikováno v: Iranian Journal of Allergy, Asthma and Immunology, Vol 14, Iss 2 (2015)

Hyperimmunoglobulin E Syndrome (HIES) is a complex primary immunodeficiency characterized by both immunologic and non-immunologic manifestations. High serum IgE level, eosinophilia, eczema, recurrent skin and lung infections constitute the immunologi

Externí odkaz: https://doaj.org/article/ada2676fe830417ea5e1b0a005b9269d

DOCK8 deficiency in six Iranian patients

Autor: Zahra Pourpak, Mostafa Moin, Massoud Houshmand, Mohammad Nabavi, Mohammad Hassan Bemanian, Bodo Grimbacher, Nima Parvaneh, Amir Ali Hamidieh, Mohammad Reza Fazlollahi, Cristina Glocker, Shiva Saghafi, Franziska Nussbaumer

Publikováno v: Clinical Case Reports

Key Clinical Message DOCK8 deficiency is a rare autosomal recessive combined immunodeficiency with high IgE level, eosinophilia, severe eczema, extensive cutaneous viral, and respiratory bacterial infections, mostly in populations with higher prevale

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::8be1b4edec61eebf662db2eb5ccfdeaf
http://europepmc.org/articles/PMC4891486

Nuclear calcineurin is a sensor for detecting Ca

Autor: Silvana, Olivares-Florez, Martin, Czolbe, Fabian, Riediger, Lea, Seidlmayer, Tatjana, Williams, Peter, Nordbeck, Jörn, Strasen, Cristina, Glocker, Monique, Jänsch, Petra, Eder-Negrin, Paula, Arias-Loza, Melanie, Mühlfelder, Jelena, Plačkić, Katrin G, Heinze, Jeffery D, Molkentin, Stefan, Engelhardt, Jens, Kockskämper, Oliver, Ritter

Publikováno v: Journal of molecular medicine (Berlin, Germany). 96(11)

In continuously beating cells like cardiac myocytes, there are rapid alterations of cytosolic Ca

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=pmid________::7b1c06f79a9010cf233c1298ea6185c6
https://pubmed.ncbi.nlm.nih.gov/30293136

The Extended Clinical Phenotype of 26 Patients with Chronic Mucocutaneous Candidiasis due to Gain-of-Function Mutations in STAT1

Autor: Stephan Borte, Rainer Doffinger, Richard K Russell, Bodo Grimbacher, Paul Henderson, Reinhold E. Schmidt, David Hagin, Dinakantha S. Kumararatne, Robin Kobbe, Gregor Dückers, Lisa Devlin, Jan Raabe, Milos Jesenak, Sebastian Fuchs, Leen Moens, Natalie Frede, Magda Carneiro-Sampaio, Cristina Glocker, Suranjith L. Seneviratne, Hans J. Stauss, Isabelle Meyts, Ulrich Baumann, Dowain A. Wright, Christine McCusker, T. Prescott Atkinson, Troy R. Torgerson, M Depner, J Wanders, José Luis Franco, Michael Borte, Anne-Bine Skytte, Tim Niehues, J. David M. Edgar, Cristina Miuki Abe Jacob, Asbjørg Stray-Pedersen, Harry W. Schroeder, Effrossyni Gkrania-Klotsas, Moshe Ben-Shoshan, Julio César Orrego

Publikováno v: Journal of Clinical Immunology
Depner, M, Fuchs, S, Raabe, J, Frede, N, Glocker, C, Doffinger, R, Gkrania-Klotsas, E, Kumararatne, D, Atkinson, T P, Schroeder, H W, Niehues, T, Dückers, G, Stray-Pedersen, A, Baumann, U, Schmidt, R, Franco, J L, Orrego, J, Ben-Shoshan, M, McCusker, C, Jacob, C M A, Carneiro-Sampaio, M, Devlin, L A, Edgar, J D M, Henderson, P, Russell, R K, Skytte, A-B, Seneviratne, S L, Wanders, J, Stauss, H, Meyts, I, Moens, L, Jesenak, M, Kobbe, R, Borte, S, Borte, M, Wright, D A, Hagin, D, Torgerson, T R & Grimbacher, B 2016, ' The Extended Clinical Phenotype of 26 Patients with Chronic Mucocutaneous Candidiasis due to Gain-of-Function Mutations in STAT1 ', Journal of clinical & cellular immunology, vol. 36, no. 1, pp. 73-84 . https://doi.org/10.1007/s10875-015-0214-9
Depner, M, Fuchs, S, Raabe, J, Frede, N, Glocker, C, Doffinger, R, Gkrania-Klotsas, E, Kumararatne, D, Atkinson, T P, Schroeder, H W, Niehues, T, Dückers, G, Stray-Pedersen, A, Baumann, U, Schmidt, R, Franco, J L, Orrego, J, Ben-Shoshan, M, McCusker, C, Jacob, C M A, Carneiro-Sampaio, M, Devlin, L A, Edgar, J D M, Henderson, P, Russell, R K, Skytte, A-B, Seneviratne, S L, Wanders, J, Stauss, H, Meyts, I, Moens, L, Jesenak, M, Kobbe, R, Borte, S, Borte, M, Wright, D A, Hagin, D, Torgerson, T R & Grimbacher, B 2016, ' The Extended Clinical Phenotype of 26 Patients with Chronic Mucocutaneous Candidiasis due to Gain-of-Function Mutations in STAT1 ', Journal of Clinical Immunology, vol. 36, no. 1, pp. 73-84 . https://doi.org/10.1007/s10875-015-0214-9

PURPOSE: Gain-of-function (GOF) mutations in the signal transducer and activator of transcription 1 (STAT1) result in unbalanced STAT signaling and cause immune dysregulation and immunodeficiency. The latter is often characterized by the susceptibili

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::7008eda25507d6fb1c74581f93b0eaf3
https://lirias.kuleuven.be/handle/123456789/525533