Hermansky-Pudlak syndrome type 1 causes impaired anti-microbial immunity and inflammation due to dysregulated immunometabolism

Authors: Cavounidis, Athena, Pandey, Sumeet, Capitani, Melania, Friedrich, Matthias, Cross, Amy, Gartner, Lisa, Aschenbrenner, Dominik, Kim-Schulze, Seunghee, Lam, Ying Ka, Berridge, Georgina, McGovern, Dermot P.B., Kessler, Benedikt, Fischer, Roman, Klenerman, Paul, Hester, Joanna, Issa, Fadi, Torres, Esther A., Powrie, Fiona, Gochuico, Bernadette R., Gahl, William A., Cohen, Louis, Uhlig, Holm H.

Source: In Mucosal Immunology November 2022 15(6):1431-1446

An Integrated Taxonomy for Monogenic Inflammatory Bowel Disease

Authors: Bolton, Chrissy, Smillie, Christopher S., Pandey, Sumeet, Elmentaite, Rasa, Wei, Gabrielle, Argmann, Carmen, Aschenbrenner, Dominik, James, Kylie R., McGovern, Dermot P.B., Macchi, Marina, Cho, Judy, Shouval, Dror S., Kammermeier, Jochen, Koletzko, Sibylle, Bagalopal, Krithika, Capitani, Melania, Cavounidis, Athena, Pires, Elisabete, Weidinger, Carl, McCullagh, James, Arkwright, Peter D., Haller, Wolfram, Siegmund, Britta, Peters, Lauren, Jostins, Luke, Travis, Simon P.L., Anderson, Carl A., Snapper, Scott, Klein, Christoph, Schadt, Eric, Zilbauer, Matthias, Xavier, Ramnik, Teichmann, Sarah, Muise, Aleixo M., Regev, Aviv, Uhlig, Holm H.

Source: In Gastroenterology March 2022 162(3):859-876

The Diverse Spectrum of Invasive Meningococcal Disease in Pediatric and Adolescent Patients: Narrative Review of Cases and Case Series.

Authors: Bobde, Shravani, Sohn, Woo-Yun, Bekkat-Berkani, Rafik, Banzhoff, Angelika, Cavounidis, Athena, Dinleyici, Ener Cagri, Rodriguez, Wilfrido Coronell, Ninis, Nelly

Source: Infectious Diseases & Therapy; Feb2024, Vol. 13 Issue 2, p251-271, 21p

Subject Terms: MENINGOCOCCAL infections, AGE groups, NEISSERIA meningitidis, SYMPTOMS, CHILDREN'S health, TEENAGERS

Janus kinase inhibition for autoinflammation in patients with DNASE2 deficiency

Authors: Hong, Ying, Capitani, Melania, Murphy, Claire, Pandey, Sumeet, Cavounidis, Athena, Takeshita, Haruo, Nanthapisal, Sira, Yasuda, Toshihiro, Bader-Meunier, Brigitte, McCreary, Dara, Omoyinmi, Ebun, Rao, Anupama, Booth, Claire, Gilmour, Kimberly, Sebire, Neil, Shah, Neil, Klein, Nigel, Bullock, Alex N., Eleftheriou, Despina, Uhlig, Holm H., Brogan, Paul

Source: Journal of allergy and clinical immunology. 145(2):701-705.e8

Availability: http://explore.bl.uk/primo_library/libweb/action/display.do?tabs=detailsTab&gathStatTab=true&ct=display&fn=search&doc=ETOCvdc_100097712858.0x000001&indx=1&recIds=ETOCvdc_100097712858.0x000001

Somatic mosaicism and common genetic variation contribute to the risk of very-early-onset inflammatory bowel disease

Authors: Serra, Eva Gonçalves, Schwerd, Tobias, Moutsianas, Loukas, Cavounidis, Athena, Fachal, Laura, Pandey, Sumeet, Kammermeier, Jochen, Croft, Nicholas M., Posovszky, Carsten, Rodrigues, Astor, Russell, Richard K., Barakat, Farah, Auth, Marcus K. H., Heuschkel, Robert, Zilbauer, Matthias, Fyderek, Krzysztof, Braegger, Christian, Travis, Simon P., Satsangi, Jack, Parkes, Miles, Thapar, Nikhil, Ferry, Helen, Matte, Julie C., Gilmour, Kimberly C., Wedrychowicz, Andrzej, Sullivan, Peter, Moore, Carmel, Sambrook, Jennifer, Ouwehand, Willem, Roberts, David, Danesh, John, Baeumler, Toni A., Fulga, Tudor A., Karaminejadranjbar, Mohammad, Ahmed, Ahmed, Wilson, Rachel, Barrett, Jeffrey C., Elkadri, Abdul, Griffiths, Anne M., Snapper, Scott B., Shah, Neil, Muise, Aleixo M., Wilson, David C., Uhlig, Holm H., Anderson, Carl A.

Source: Nature communications. 11(1)

Availability: http://explore.bl.uk/primo_library/libweb/action/display.do?tabs=detailsTab&gathStatTab=true&ct=display&fn=search&doc=ETOCvdc_100164151482.0x000001&indx=1&recIds=ETOCvdc_100164151482.0x000001

Crohn's Disease in Niemann–Pick Disease Type C1: Caught in the Cross-Fire of Host-Microbial Interactions

Authors: Cavounidis, Athena, Uhlig, Holm H.

Source: Digestive diseases and sciences. 63(4):811-813

Availability: http://explore.bl.uk/primo_library/libweb/action/display.do?tabs=detailsTab&gathStatTab=true&ct=display&fn=search&doc=ETOCvdc_100127335317.0x000001&indx=1&recIds=ETOCvdc_100127335317.0x000001

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Author Correction: Somatic mosaicism and common genetic variation contribute to the risk of very-early-onset inflammatory bowel disease.

Authors: Serra, Eva Gonçalves, Schwerd, Tobias, Moutsianas, Loukas, Cavounidis, Athena, Fachal, Laura, Pandey, Sumeet, Kammermeier, Jochen, Croft, Nicholas M., Posovszky, Carsten, Rodrigues, Astor, Russell, Richard K., Barakat, Farah, Auth, Marcus K. H., Heuschkel, Robert, Zilbauer, Matthias, Fyderek, Krzysztof, Braegger, Christian, Travis, Simon P., Satsangi, Jack, Parkes, Miles

Source: Nature Communications; 6/22/2022, Vol. 13 Issue 1, p1-1, 1p

Subject Terms: GENETIC variation, INFLAMMATORY bowel diseases, MOSAICISM

Multisystem inflammatory syndrome in children: getting to the heart of the matter

Authors: Cavounidis, Athena, Alderson, Jennifer, Quastel, Max

Source: Nature Reviews Immunology; September 2020, Vol. 20 Issue: 9 p520-520, 1p

SARS-CoV-2 has a sweet tooth

Authors: Cavounidis, Athena, Mann, Elizabeth H.

Source: Nature Reviews Immunology; August 2020, Vol. 20 Issue: 8 p460-460, 1p

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