TY  - JOUR
AU  - Marín Marín, Ana Victoria
AU  - Jiménez Reinoso, Anaïs
AU  - Mazariegos, Marina S.
AU  - Román Ortiz, Elena
AU  - Regueiro González-Barros, José Ramón
PY  - 2022
DO  - 10.3389/fimmu.2022.979722
UR  - https://hdl.handle.net/20.500.14352/107211
T2  - Frontiers in Immunology
AB  - Schimke immuno-osseous dysplasia (SIOD) caused by mutations in SMARCAL1 is an ultra-rare disease characterized by specific facial features, skeletal dysplasia, and steroid-resistant nephrotic syndrome, which often leads to kidney failure and requires...
LA  - eng
PB  - Frontiers Media
KW  - Schimke
KW  - SIOD
KW  - SMARCAL1
KW  - immunosuppression
KW  - T-cell
KW  - lymphopenia
KW  - kidney failure
TI  - T-cell receptor signaling in Schimke immunoosseous dysplasia is SMARCAL1-independent
TY  - journal article
VL  - 13
ER  -