Human CARMIL2 deficiency underlies a broader immunological and clinical phenotype than CD28 deficiency.

↓ Direkt till sidans innehåll
↓ Direkt till sidans sekundära innehåll (sidomenyn)

Search: WFRF:(Baris Safa) > (2023) > Human CARMIL2 defic...

1 of 2
Previous record
Next record
To hitlist

Details
MARC

Lévy, Romain (author)

Human CARMIL2 deficiency underlies a broader immunological and clinical phenotype than CD28 deficiency.

Article/chapterEnglish2023

Publisher, publication year, extent ...

2022-12-14
Rockefeller University Press,2023

Numbers

LIBRIS-ID:oai:gup.ub.gu.se/321447
https://gup.ub.gu.se/publication/321447URI
https://doi.org/10.1084/jem.20220275DOI

Supplementary language notes

Language:English

Part of subdatabase

SwePubSwePub

Classification

Subject category:ref swepub-contenttype
Subject category:art swepub-publicationtype

Notes

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 and genre

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
Humans
CD28 Antigens
metabolism
Microfilament Proteins
genetics
Mutation
genetics
Phenotype
CD4-Positive T-Lymphocytes

Added entries (persons, corporate bodies, meetings, titles ...)

Gothe, Florian (author)
Momenilandi, Mana (author)
Magg, Thomas (author)
Materna, Marie (author)
Peters, Philipp (author)
Raedler, Johannes (author)
Philippot, Quentin (author)
Rack-Hoch, Anita Lena (author)
Langlais, David (author)
Bourgey, Mathieu (author)
Lanz, Anna-Lisa (author)
Ogishi, Masato (author)
Rosain, Jérémie (author)
Martin, Emmanuel (author)
Latour, Sylvain (author)
Vladikine, Natasha (author)
Distefano, Marco (author)
Khan, Taushif (author)
Rapaport, Franck (author)
Schulz, Marian S (author)
Holzer, Ursula (author)
Fasth, Anders,1945Gothenburg University,Göteborgs universitet,Institutionen för kliniska vetenskaper, Avdelningen för pediatrik,Institute of Clinical Sciences, Department of Pediatrics(Swepub:gu)xfasan (author)
Sogkas, Georgios (author)
Speckmann, Carsten (author)
Troilo, Arianna (author)
Bigley, Venetia (author)
Roppelt, Anna (author)
Dinur-Schejter, Yael (author)
Toker, Ori (author)
Bronken Martinsen, Karen Helene (author)
Sherkat, Roya (author)
Somekh, Ido (author)
Somech, Raz (author)
Shouval, Dror S (author)
Kühl, Jörn-Sven (author)
Ip, Winnie (author)
McDermott, Elizabeth M (author)
Cliffe, Lucy (author)
Ozen, Ahmet (author)
Baris, Safa (author)
Rangarajan, Hemalatha G (author)
Jouanguy, Emmanuelle (author)
Puel, Anne (author)
Bustamante, Jacinta (author)
Alyanakian, Marie-Alexandra (author)
Fusaro, Mathieu (author)
Wang, Yi (author)
Kong, Xiao-Fei (author)
Cobat, Aurélie (author)
Boutboul, David (author)
Castelle, Martin (author)
Aguilar, Claire (author)
Hermine, Olivier (author)
Cheminant, Morgane (author)
Suarez, Felipe (author)
Yildiran, Alisan (author)
Bousfiha, Aziz (author)
Al-Mousa, Hamoud (author)
Alsohime, Fahad (author)
Cagdas, Deniz (author)
Abraham, Roshini S (author)
Knutsen, Alan P (author)
Fevang, Borre (author)
Bhattad, Sagar (author)
Kiykim, Ayca (author)
Erman, Baran (author)
Arikoglu, Tugba (author)
Unal, Ekrem (author)
Kumar, Ashish (author)
Geier, Christoph B (author)
Baumann, Ulrich (author)
Neven, Bénédicte (author)
Rohlfs, Meino (author)
Walz, Christoph (author)
Abel, Laurent (author)
Malissen, Bernard (author)
Marr, Nico (author)
Klein, Christoph (author)
Casanova, Jean-Laurent (author)
Hauck, Fabian (author)
Béziat, Vivien (author)
Göteborgs universitetInstitutionen för kliniska vetenskaper, Avdelningen för pediatrik (creator_code:org_t)

Related titles

In:The Journal of experimental medicine: Rockefeller University Press220:21540-95380022-1007

Internet link

Find in a library

The Journal of experimental medicine (Search for host publication in LIBRIS)

To the university's database

1 of 2
Previous record
Next record
To hitlist

Find more in SwePub

By the author/editor: Lévy, Romain; Gothe, Florian; Momenilandi, Man ...; Magg, Thomas; Materna, Marie; Peters, Philipp; show more...; Raedler, Johanne ...; Philippot, Quent ...; Rack-Hoch, Anita ...; Langlais, David; Bourgey, Mathieu; Lanz, Anna-Lisa; Ogishi, Masato; Rosain, Jérémie; Martin, Emmanuel; Latour, Sylvain; Vladikine, Natas ...; Distefano, Marco; Khan, Taushif; Rapaport, Franck; Schulz, Marian S; Holzer, Ursula; Fasth, Anders, 1 ...; Sogkas, Georgios; Speckmann, Carst ...; Troilo, Arianna; Bigley, Venetia; Roppelt, Anna; Dinur-Schejter, ...; Toker, Ori; Bronken Martinse ...; Sherkat, Roya; Somekh, Ido; Somech, Raz; Shouval, Dror S; Kühl, Jörn-Sven; Ip, Winnie; McDermott, Eliza ...; Cliffe, Lucy; Ozen, Ahmet; Baris, Safa; Rangarajan, Hema ...; Jouanguy, Emmanu ...; Puel, Anne; Bustamante, Jaci ...; Alyanakian, Mari ...; Fusaro, Mathieu; Wang, Yi; Kong, Xiao-Fei; Cobat, Aurélie; Boutboul, David; Castelle, Martin; Aguilar, Claire; Hermine, Olivier; Cheminant, Morga ...; Suarez, Felipe; Yildiran, Alisan; Bousfiha, Aziz; Al-Mousa, Hamoud; Alsohime, Fahad; Cagdas, Deniz; Abraham, Roshini ...; Knutsen, Alan P; Fevang, Borre; Bhattad, Sagar; Kiykim, Ayca; Erman, Baran; Arikoglu, Tugba; Unal, Ekrem; Kumar, Ashish; Geier, Christoph ...; Baumann, Ulrich; Neven, Bénédicte; Rohlfs, Meino; Walz, Christoph; Abel, Laurent; Malissen, Bernar ...; Marr, Nico; Klein, Christoph; Casanova, Jean-L ...; Hauck, Fabian; Béziat, Vivien; show less...

About the subject

MEDICAL AND HEALTH SCIENCES: MEDICAL AND HEAL ...; and Clinical Medicin ...; and Pediatrics

MEDICAL AND HEALTH SCIENCES: MEDICAL AND HEAL ...; and Clinical Medicin ...; and Infectious Medic ...

MEDICAL AND HEALTH SCIENCES: MEDICAL AND HEAL ...; and Basic Medicine; and Immunology in th ...

Articles in the publication: The Journal of e ...

By the university: University of Gothenburg

Search outside SwePub

Extend your search to:: Google; Google Book Search; Google Scholar

Kungliga biblioteket hanterar dina personuppgifter i enlighet med EU:s dataskyddsförordning (2018), GDPR. Läs mer om hur det funkar här.
Så här hanterar KB dina uppgifter vid användning av denna tjänst.

LIBRIS.kb.se