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

Levy, 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, Jeremie; 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; Martinsen, Karen; Sherkat, Roya; Somekh, Ido; Somech, Raz; Shouval, Dror; Kuehl, Joern-Sven; Ip, Winnie; McDermott, Elizabeth; Cliffe, Lucy; Ozen, Ahmet; BARIŞ, SAFA; Rangarajan, Hemalatha; Jouanguy, Emmanuelle; Puel, Anne; Bustamante, Jacinta; Alyanakian, Marie-Alexandra; Fusaro, Mathieu; Wang, Yi; Kong, Xiao-Fei; Cobat, Aurelie; Boutboul, David; Castelle, Martin; Aguilar, Claire; Hermine, Olivier; Cheminant, Morgane; Suarez, Felipe; Yıldıran, Alişan; Bousfiha, Aziz; Al-Mousa, Hamoud; Alsohime, Fahad; ÇAĞDAŞ AYVAZ, DENİZ; Abraham, Roshini; Knutsen, Alan; Fevang, Borre; Bhattad, Sagar; KIYKIM, AYÇA; ERMAN, BARAN; ARIKOĞLU, TUĞBA; ÜNAL, EKREM; Kumar, Ashish; Geier, Christoph; Baumann, Ulrich; Neven, Benedicte; Rohlfs, Meino; Walz, Christoph; Abel, Laurent; Malissen, Bernard; Marr, Nico; Klein, Christoph; Casanova, Jean-Laurent; Hauck, Fabian; Beziat, Vivien

doi:10.1084/jem.20220275

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

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

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

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
Açık Arşiv Koleksiyonu: AVESİS Açık Erişim Koleksiyonu
Ondokuz Mayıs 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.