WFRF:(Bourgey M)
Sökning: WFRF:(Bourgey M) > Human CARMIL2 defic...
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| Fältnamn | Indikatorer | Metadata |
|---|---|---|
| 000 | 06227naa a2201405 4500 | |
| 001 | oai:gup.ub.gu.se/321447 | |
| 003 | SwePub | |
| 008 | 240528s2023 | |||||||||||000 ||eng| | |
| 024 | 7 | a https://gup.ub.gu.se/publication/3214472 URI |
| 024 | 7 | a https://doi.org/10.1084/jem.202202752 DOI |
| 040 | a (SwePub)gu | |
| 041 | a eng | |
| 042 | 9 SwePub | |
| 072 | 7 | a ref2 swepub-contenttype |
| 072 | 7 | a art2 swepub-publicationtype |
| 100 | 1 | a Lévy, Romain4 aut |
| 245 | 1 0 | a Human CARMIL2 deficiency underlies a broader immunological and clinical phenotype than CD28 deficiency. |
| 264 | c 2022-12-14 | |
| 264 | 1 | b Rockefeller University Press,c 2023 |
| 520 | a Patients with inherited CARMIL2 or CD28 deficiency have defective T cell CD28 signaling, but their immunological and clinical phenotypes remain largely unknown. We show that only one of three CARMIL2 isoforms is produced and functional across leukocyte subsets. Tested mutant CARMIL2 alleles from 89 patients and 52 families impair canonical NF-κB but not AP-1 and NFAT activation in T cells stimulated via CD28. Like CD28-deficient patients, CARMIL2-deficient patients display recalcitrant warts and low blood counts of CD4+ and CD8+ memory T cells and CD4+ TREGs. Unlike CD28-deficient patients, they have low counts of NK cells and memory B cells, and their antibody responses are weak. CARMIL2 deficiency is fully penetrant by the age of 10 yr and is characterized by numerous infections, EBV+ smooth muscle tumors, and mucocutaneous inflammation, including inflammatory bowel disease. Patients with somatic reversions of a mutant allele in CD4+ T cells have milder phenotypes. Our study suggests that CARMIL2 governs immunological pathways beyond CD28. | |
| 650 | 7 | a MEDICIN OCH HÄLSOVETENSKAPx Klinisk medicinx Pediatrik0 (SwePub)302212 hsv//swe |
| 650 | 7 | a MEDICAL AND HEALTH SCIENCESx Clinical Medicinex Pediatrics0 (SwePub)302212 hsv//eng |
| 650 | 7 | a MEDICIN OCH HÄLSOVETENSKAPx Klinisk medicinx Infektionsmedicin0 (SwePub)302092 hsv//swe |
| 650 | 7 | a MEDICAL AND HEALTH SCIENCESx Clinical Medicinex Infectious Medicine0 (SwePub)302092 hsv//eng |
| 650 | 7 | a MEDICIN OCH HÄLSOVETENSKAPx Medicinska och farmaceutiska grundvetenskaperx Immunologi inom det medicinska området0 (SwePub)301102 hsv//swe |
| 650 | 7 | a MEDICAL AND HEALTH SCIENCESx Basic Medicinex Immunology in the medical area0 (SwePub)301102 hsv//eng |
| 653 | a Humans | |
| 653 | a CD28 Antigens | |
| 653 | a metabolism | |
| 653 | a Microfilament Proteins | |
| 653 | a genetics | |
| 653 | a Mutation | |
| 653 | a genetics | |
| 653 | a Phenotype | |
| 653 | a CD4-Positive T-Lymphocytes | |
| 700 | 1 | a Gothe, Florian4 aut |
| 700 | 1 | a Momenilandi, Mana4 aut |
| 700 | 1 | a Magg, Thomas4 aut |
| 700 | 1 | a Materna, Marie4 aut |
| 700 | 1 | a Peters, Philipp4 aut |
| 700 | 1 | a Raedler, Johannes4 aut |
| 700 | 1 | a Philippot, Quentin4 aut |
| 700 | 1 | a Rack-Hoch, Anita Lena4 aut |
| 700 | 1 | a Langlais, David4 aut |
| 700 | 1 | a Bourgey, Mathieu4 aut |
| 700 | 1 | a Lanz, Anna-Lisa4 aut |
| 700 | 1 | a Ogishi, Masato4 aut |
| 700 | 1 | a Rosain, Jérémie4 aut |
| 700 | 1 | a Martin, Emmanuel4 aut |
| 700 | 1 | a Latour, Sylvain4 aut |
| 700 | 1 | a Vladikine, Natasha4 aut |
| 700 | 1 | a Distefano, Marco4 aut |
| 700 | 1 | a Khan, Taushif4 aut |
| 700 | 1 | a Rapaport, Franck4 aut |
| 700 | 1 | a Schulz, Marian S4 aut |
| 700 | 1 | a Holzer, Ursula4 aut |
| 700 | 1 | a Fasth, Anders,d 1945u Gothenburg University,Göteborgs universitet,Institutionen för kliniska vetenskaper, Avdelningen för pediatrik,Institute of Clinical Sciences, Department of Pediatrics4 aut0 (Swepub:gu)xfasan |
| 700 | 1 | a Sogkas, Georgios4 aut |
| 700 | 1 | a Speckmann, Carsten4 aut |
| 700 | 1 | a Troilo, Arianna4 aut |
| 700 | 1 | a Bigley, Venetia4 aut |
| 700 | 1 | a Roppelt, Anna4 aut |
| 700 | 1 | a Dinur-Schejter, Yael4 aut |
| 700 | 1 | a Toker, Ori4 aut |
| 700 | 1 | a Bronken Martinsen, Karen Helene4 aut |
| 700 | 1 | a Sherkat, Roya4 aut |
| 700 | 1 | a Somekh, Ido4 aut |
| 700 | 1 | a Somech, Raz4 aut |
| 700 | 1 | a Shouval, Dror S4 aut |
| 700 | 1 | a Kühl, Jörn-Sven4 aut |
| 700 | 1 | a Ip, Winnie4 aut |
| 700 | 1 | a McDermott, Elizabeth M4 aut |
| 700 | 1 | a Cliffe, Lucy4 aut |
| 700 | 1 | a Ozen, Ahmet4 aut |
| 700 | 1 | a Baris, Safa4 aut |
| 700 | 1 | a Rangarajan, Hemalatha G4 aut |
| 700 | 1 | a Jouanguy, Emmanuelle4 aut |
| 700 | 1 | a Puel, Anne4 aut |
| 700 | 1 | a Bustamante, Jacinta4 aut |
| 700 | 1 | a Alyanakian, Marie-Alexandra4 aut |
| 700 | 1 | a Fusaro, Mathieu4 aut |
| 700 | 1 | a Wang, Yi4 aut |
| 700 | 1 | a Kong, Xiao-Fei4 aut |
| 700 | 1 | a Cobat, Aurélie4 aut |
| 700 | 1 | a Boutboul, David4 aut |
| 700 | 1 | a Castelle, Martin4 aut |
| 700 | 1 | a Aguilar, Claire4 aut |
| 700 | 1 | a Hermine, Olivier4 aut |
| 700 | 1 | a Cheminant, Morgane4 aut |
| 700 | 1 | a Suarez, Felipe4 aut |
| 700 | 1 | a Yildiran, Alisan4 aut |
| 700 | 1 | a Bousfiha, Aziz4 aut |
| 700 | 1 | a Al-Mousa, Hamoud4 aut |
| 700 | 1 | a Alsohime, Fahad4 aut |
| 700 | 1 | a Cagdas, Deniz4 aut |
| 700 | 1 | a Abraham, Roshini S4 aut |
| 700 | 1 | a Knutsen, Alan P4 aut |
| 700 | 1 | a Fevang, Borre4 aut |
| 700 | 1 | a Bhattad, Sagar4 aut |
| 700 | 1 | a Kiykim, Ayca4 aut |
| 700 | 1 | a Erman, Baran4 aut |
| 700 | 1 | a Arikoglu, Tugba4 aut |
| 700 | 1 | a Unal, Ekrem4 aut |
| 700 | 1 | a Kumar, Ashish4 aut |
| 700 | 1 | a Geier, Christoph B4 aut |
| 700 | 1 | a Baumann, Ulrich4 aut |
| 700 | 1 | a Neven, Bénédicte4 aut |
| 700 | 1 | a Rohlfs, Meino4 aut |
| 700 | 1 | a Walz, Christoph4 aut |
| 700 | 1 | a Abel, Laurent4 aut |
| 700 | 1 | a Malissen, Bernard4 aut |
| 700 | 1 | a Marr, Nico4 aut |
| 700 | 1 | a Klein, Christoph4 aut |
| 700 | 1 | a Casanova, Jean-Laurent4 aut |
| 700 | 1 | a Hauck, Fabian4 aut |
| 700 | 1 | a Béziat, Vivien4 aut |
| 710 | 2 | a Göteborgs universitetb Institutionen för kliniska vetenskaper, Avdelningen för pediatrik4 org |
| 773 | 0 | t The Journal of experimental medicined : Rockefeller University Pressg 220:2q 220:2x 1540-9538x 0022-1007 |
| 856 | 4 8 | u https://gup.ub.gu.se/publication/321447 |
| 856 | 4 8 | u https://doi.org/10.1084/jem.20220275 |
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