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...

Täydet tiedot

Bibliografiset tiedot

Päätekijät:	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
Aineistotyyppi:	Artigo
Kieli:	Inglês
Julkaistu:	Frontiers Media S.A. 2018-02-01
Sarja:	Frontiers in Immunology
Aiheet:	CARMIL2 immunodeficiency whole exome sequencing autosomal recessive RLTPR dermatitis
Linkit:	http://journal.frontiersin.org/article/10.3389/fimmu.2018.00203/full
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