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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...

Ausführliche Beschreibung

Gespeichert in:
Hauptverfasser: Anas M. Alazami, Maryam Al-Helale, Safa Alhissi, Bandar Al-Saud, Huda Alajlan, Dorota Monies, Zeeshan Shah, Mohamed Abouelhoda, Rand Arnaout, Hasan Al-Dhekri, Nouf S. Al-Numair, Hazem Ghebeh, Farrukh Sheikh, Hamoud Al-Mousa
Format: Artigo
Sprache:Inglês
Veröffentlicht: Frontiers Media S.A. 2018-02-01
Schriftenreihe:Frontiers in Immunology
Schlagworte:
CARMIL2
immunodeficiency
whole exome sequencing
autosomal recessive
RLTPR
dermatitis
Online-Zugang:http://journal.frontiersin.org/article/10.3389/fimmu.2018.00203/full
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