TY  - JOUR
AU  - Dominguez-Pinilla, Nerea
AU  - Perrig, Melina Soledad
AU  - Rodriguez Vigil-Iturrate, Carmen
AU  - Salmón-Rodriguez, Nerea
AU  - Martinez Faci, Cristina
AU  - Castro-Panete, María J.
AU  - Blas-Espada, Javier
AU  - López-Nevado, Marta
AU  - Ruiz-Garcia, Raquel
AU  - Chaparro-García, Rebeca
AU  - Recio Hoyas, María José
AU  - Allende Martínez, Luis Miguel
AU  - González Granado, Luis Ignacio
PY  - 2019
DO  - 10.3389/fimmu.2018.02959
SN  - 1664-3224
UR  - https://hdl.handle.net/20.500.14352/92613
T2  - Frontiers in Immunology
AB  - Cernunnos/XLF deficiency is a rare primary immunodeficiency classified within the DNA repair defects. Patients present with severe growth retardation, microcephaly, lymphopenia and increased cellular sensitivity to ionizing radiation. Here, we...
LA  - eng
M2  - 2959
PB  - FRONTIERS MEDIA SA
KW  - DNA repair
KW  - NHEJ1 mutation
KW  - XLF/Cernunnos
KW  - Lymphomagenesis
KW  - Radiosensitive SCID (RS-SCID)
KW  - Severe Combined Immunodeficiency.
TI  - Extreme Phenotypes With Identical Mutations: Two Patients With Same Non-sense NHEJ1 Homozygous Mutation
TY  - journal article
VL  - 9
ER  -