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Human CARMIL2 defic...
Human CARMIL2 deficiency underlies a broader immunological and clinical phenotype than CD28 deficiency.
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Lévy, Romain (author)
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Gothe, Florian (author)
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Momenilandi, Mana (author)
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Magg, Thomas (author)
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Materna, Marie (author)
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Peters, Philipp (author)
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Raedler, Johannes (author)
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Philippot, Quentin (author)
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Rack-Hoch, Anita Lena (author)
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Langlais, David (author)
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Bourgey, Mathieu (author)
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Lanz, Anna-Lisa (author)
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Ogishi, Masato (author)
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Rosain, Jérémie (author)
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Martin, Emmanuel (author)
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Latour, Sylvain (author)
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Vladikine, Natasha (author)
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Distefano, Marco (author)
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Khan, Taushif (author)
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Rapaport, Franck (author)
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Schulz, Marian S (author)
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Holzer, Ursula (author)
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- Fasth, Anders, 1945 (author)
- Gothenburg University,Göteborgs universitet,Institutionen för kliniska vetenskaper, Avdelningen för pediatrik,Institute of Clinical Sciences, Department of Pediatrics
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Sogkas, Georgios (author)
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Speckmann, Carsten (author)
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Troilo, Arianna (author)
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Bigley, Venetia (author)
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Roppelt, Anna (author)
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Dinur-Schejter, Yael (author)
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Toker, Ori (author)
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Bronken Martinsen, Karen Helene (author)
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Sherkat, Roya (author)
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Somekh, Ido (author)
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Somech, Raz (author)
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Shouval, Dror S (author)
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Kühl, Jörn-Sven (author)
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Ip, Winnie (author)
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McDermott, Elizabeth M (author)
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Cliffe, Lucy (author)
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Ozen, Ahmet (author)
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Baris, Safa (author)
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Rangarajan, Hemalatha G (author)
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Jouanguy, Emmanuelle (author)
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Puel, Anne (author)
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Bustamante, Jacinta (author)
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Alyanakian, Marie-Alexandra (author)
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Fusaro, Mathieu (author)
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Wang, Yi (author)
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Kong, Xiao-Fei (author)
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Cobat, Aurélie (author)
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Boutboul, David (author)
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Castelle, Martin (author)
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Aguilar, Claire (author)
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Hermine, Olivier (author)
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Cheminant, Morgane (author)
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Suarez, Felipe (author)
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Yildiran, Alisan (author)
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Bousfiha, Aziz (author)
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Al-Mousa, Hamoud (author)
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Alsohime, Fahad (author)
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Cagdas, Deniz (author)
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Abraham, Roshini S (author)
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Knutsen, Alan P (author)
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Fevang, Borre (author)
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Bhattad, Sagar (author)
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Kiykim, Ayca (author)
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Erman, Baran (author)
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Arikoglu, Tugba (author)
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Unal, Ekrem (author)
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Kumar, Ashish (author)
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Geier, Christoph B (author)
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Baumann, Ulrich (author)
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Neven, Bénédicte (author)
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Rohlfs, Meino (author)
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Walz, Christoph (author)
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Abel, Laurent (author)
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Malissen, Bernard (author)
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Marr, Nico (author)
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Klein, Christoph (author)
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Casanova, Jean-Laurent (author)
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Hauck, Fabian (author)
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Béziat, Vivien (author)
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(creator_code:org_t)
- 2022-12-14
- 2023
- English.
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In: The Journal of experimental medicine. - : Rockefeller University Press. - 1540-9538 .- 0022-1007. ; 220:2
- Related links:
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https://gup.ub.gu.se...
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https://doi.org/10.1...
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Abstract
Subject headings
Close
- 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.
Subject headings
- MEDICIN OCH HÄLSOVETENSKAP -- Klinisk medicin -- Pediatrik (hsv//swe)
- MEDICAL AND HEALTH SCIENCES -- Clinical Medicine -- Pediatrics (hsv//eng)
- MEDICIN OCH HÄLSOVETENSKAP -- Klinisk medicin -- Infektionsmedicin (hsv//swe)
- MEDICAL AND HEALTH SCIENCES -- Clinical Medicine -- Infectious Medicine (hsv//eng)
- MEDICIN OCH HÄLSOVETENSKAP -- Medicinska och farmaceutiska grundvetenskaper -- Immunologi inom det medicinska området (hsv//swe)
- MEDICAL AND HEALTH SCIENCES -- Basic Medicine -- Immunology in the medical area (hsv//eng)
Keyword
- Humans
- CD28 Antigens
- metabolism
- Microfilament Proteins
- genetics
- Mutation
- genetics
- Phenotype
- CD4-Positive T-Lymphocytes
Publication and Content Type
- ref (subject category)
- art (subject category)
Find in a library
To the university's database
- By the author/editor
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Lévy, Romain
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Gothe, Florian
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Momenilandi, Man ...
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Magg, Thomas
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Materna, Marie
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Peters, Philipp
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show more...
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Raedler, Johanne ...
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Philippot, Quent ...
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Rack-Hoch, Anita ...
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Langlais, David
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Bourgey, Mathieu
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Lanz, Anna-Lisa
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Ogishi, Masato
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Rosain, Jérémie
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Martin, Emmanuel
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Latour, Sylvain
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Vladikine, Natas ...
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Distefano, Marco
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Khan, Taushif
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Rapaport, Franck
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Schulz, Marian S
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Holzer, Ursula
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Fasth, Anders, 1 ...
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Sogkas, Georgios
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Speckmann, Carst ...
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Troilo, Arianna
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Bigley, Venetia
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Roppelt, Anna
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Dinur-Schejter, ...
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Toker, Ori
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Bronken Martinse ...
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Sherkat, Roya
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Somekh, Ido
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Somech, Raz
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Shouval, Dror S
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Kühl, Jörn-Sven
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Ip, Winnie
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McDermott, Eliza ...
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Cliffe, Lucy
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Ozen, Ahmet
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Baris, Safa
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Rangarajan, Hema ...
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Jouanguy, Emmanu ...
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Puel, Anne
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Bustamante, Jaci ...
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Alyanakian, Mari ...
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Fusaro, Mathieu
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Wang, Yi
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Kong, Xiao-Fei
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Cobat, Aurélie
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Boutboul, David
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Castelle, Martin
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Aguilar, Claire
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Hermine, Olivier
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Cheminant, Morga ...
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Suarez, Felipe
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Yildiran, Alisan
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Bousfiha, Aziz
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Al-Mousa, Hamoud
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Alsohime, Fahad
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Cagdas, Deniz
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Abraham, Roshini ...
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Knutsen, Alan P
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Fevang, Borre
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Bhattad, Sagar
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Kiykim, Ayca
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Erman, Baran
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Arikoglu, Tugba
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Unal, Ekrem
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Kumar, Ashish
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Geier, Christoph ...
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Baumann, Ulrich
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Neven, Bénédicte
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Rohlfs, Meino
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Walz, Christoph
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Abel, Laurent
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Malissen, Bernar ...
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Marr, Nico
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Klein, Christoph
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Casanova, Jean-L ...
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Hauck, Fabian
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Béziat, Vivien
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show less...
- About the subject
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- MEDICAL AND HEALTH SCIENCES
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MEDICAL AND HEAL ...
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and Clinical Medicin ...
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and Pediatrics
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- MEDICAL AND HEALTH SCIENCES
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MEDICAL AND HEAL ...
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and Clinical Medicin ...
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and Infectious Medic ...
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- MEDICAL AND HEALTH SCIENCES
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MEDICAL AND HEAL ...
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and Basic Medicine
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and Immunology in th ...
- Articles in the publication
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The Journal of e ...
- By the university
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University of Gothenburg