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

Lévy, Romain; Gothe, Florian; Momenilandi, Mana; Magg, Thomas; Materna, Marie; Peters, Philipp; Raedler, Johannes; Philippot, Quentin; Rack-Hoch, Anita; Langlais, David; Bourgey, Mathieu; Lanz, Anna-Lisa; Ogishi, Masato; Rosain, Jérémie; Martin, Emmanuel; Latour, Sylvain; Vladikine, Natasha; Distefano, Marco; Khan, Taushif; Rapaport, Franck; Schulz, Marian; Holzer, Ursula; Fasth, Anders; Sogkas, Georgios; Speckmann, Carsten; Troilo, Arianna; Bigley, Venetia; Roppelt, Anna; Dinur-Schejter, Yael; Toker, Ori; Bronken Martinsen, Karen; Sherkat, Roya; Somekh, Ido; Somech, Raz; Shouval, Dror; Kühl, Jörn-Sven; Ip, Winnie; McDermott, Elizabeth; Cliffe, Lucy; Ozen, AHMET; Baris, Safa; Rangarajan, Hemalatha; Jouanguy, Emmanuelle; Puel, Anne; Bustamante, Jacinta; Alyanakian, Marie-Alexandra; Fusaro, Mathieu; Wang, Yi; Kong, Xiao-Fei; Cobat, Aurélie; Boutboul, David; Castelle, Martin; Aguilar, Claire; Hermine, Olivier; Cheminant, Morgane; Suarez, Felipe; Yildiran, Alisan; Bousfiha, Aziz; Al-Mousa, Hamoud; Alsohime, Fahad; Cagdas, Deniz; Abraham, Roshini; Knutsen, Alan; 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, Bernard; Marr, Nico; Klein, Christoph; Casanova, Jean-Laurent; Hauck, Fabian; Béziat, Vivien; Calas, Julie; Feuille, Elizabeth; Chan, Angela; Yesil, Gozde; Nammour, Justine; Bandet, Élise; Picard, Capucine; Benhsaien, Ibtihal; Lang, Peter; Atschekzei, Faranaz; Warnatz, Klaus; Hambleton, Sophie; Desai, Mukesh; Karakoc-Aydiner, ELİF; Kolukisa, Burcu; Al-Muhsen, Saleh; Alosaimi, Mohammed; Cipe, Funda; Alazami, Anas; Hancioglu, Gonca; Can Meydan, Bilge; Sorte, Hanne; Stray-Pedersen, Asbjørg; Mammayil, Geetha; Tökmeci, Nazan; Shcherbina, Anna; Stepensky, Polina; NaserEddin, Adeeb; Rouzaud, Claire; Hoshino, Akihiro; Shamriz, Oded; Ledder, Oren; Maccari, Maria; Castro, Carla; Grimbacher, Bodo; Schmidt, Reinhold; Collin, Matthew; Zakharova, Victorya

doi:10.1084/jem.20220275

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

Atıf İçin Kopyala

Lévy R., Gothe F., Momenilandi M., Magg T., Materna M., Peters P., ...Daha Fazla

JOURNAL OF EXPERIMENTAL MEDICINE, cilt.220, sa.2, 2022 (SCI-Expanded)

Yayın Türü: Makale / Tam Makale
Cilt numarası: 220 Sayı: 2
Basım Tarihi: 2022
Doi Numarası: 10.1084/jem.20220275
Dergi Adı: JOURNAL OF EXPERIMENTAL MEDICINE
Derginin Tarandığı İndeksler: Science Citation Index Expanded (SCI-EXPANDED), Scopus, BIOSIS, CAB Abstracts, Chemical Abstracts Core, EMBASE, MEDLINE, Veterinary Science Database
Marmara Üniversitesi Adresli: Evet

Özet

Inherited CARMIL2 deficiency underlies infections, EBV+ smooth muscle tumors, and mucocutaneous inflammation. CARMIL2 deficiency impairs CD28 signaling only partially in T cells. The comparison of CARMIL2 and CD28 deficiency in humans suggests that CARMIL2 governs immunological pathways beyond CD28.