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Novel CARMIL2 Mutations in Patients with Variable Clinical Dermatitis, Infections, and Combined Immunodeficiency

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 mi...

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Detalles Bibliográficos
Autores principales: 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
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Frontiers Media S.A. 2018
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5811477/
https://www.ncbi.nlm.nih.gov/pubmed/29479355
http://dx.doi.org/10.3389/fimmu.2018.00203