Article
Novel CARMIL2 Mutations in Patients with Variable Clinical Dermatitis, Infections, and Combined Immunodeficiency.
Frontiers in immunology - 1 Jan 2018
Alazami Anas M, Al-Helale Maryam, Alhissi Safa, Al-Saud Bandar, Alajlan Huda, Monies Dorota, Shah Zeeshan, Abouelhoda Mohamed, Arnaout Rand, Al-Dhekri Hasan, Al-Numair Nouf S, Ghebeh Hazem, Sheikh Farrukh, Al-Mousa Hamoud
Abstract excerpt
Combined immunodeficiencies are a heterogeneous collection of primary immune disorders that exhibit defects in T cell development or function, along with impaired B cell activity even in light of normal B cell maturation. CARMIL2 (RLTPR) is a protein involved in cytoskeletal organization and cell migration, which also plays a role in CD28 co-signaling of T cells. Mutations in this protein have recently been...
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