Studiu de caz: mutație FAS (Leu242Pro) cu prezenta limfocitelor T dublu negative la un pacient care prezinta ALPS (sindrom limfoproliferativ autoimun)

Pădure Sergiu; Pastor Cali Maia; Ibanez Garcia Angela; Lopez Granados Eduardo; Bravo Garcia-Morato Maria; Matas Perez Elisabet; Fernandez-Cruz Perez Eduardo

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2024-06-25 14:03

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PĂDURE, Sergiu, PASTOR, Cali Maia, IBANEZ GARCIA, Angela, LOPEZ GRANADOS, Eduardo, BRAVO GARCIA-MORATO, Maria, MATAS PEREZ, Elisabet, FERNANDEZ-CRUZ PEREZ, Eduardo. Studiu de caz: mutație FAS (Leu242Pro) cu prezenta limfocitelor T dublu negative la un pacient care prezinta ALPS (sindrom limfoproliferativ autoimun). In: Imunodeficiențele primare în era screening-ului neonatal , 6-7 octombrie 2023, Chişinău. Tipografia Centrală.......: Tipografia Centrală, 2023, pp. 32-47.

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Imunodeficiențele primare în era screening-ului neonatal 2023

Conferința "Imunodeficiențele primare în era screening-ului neonatal"
Chişinău, Moldova, 6-7 octombrie 2023

Studiu de caz: mutație FAS (Leu242Pro) cu prezenta limfocitelor T dublu negative la un pacient care prezinta ALPS (sindrom limfoproliferativ autoimun)

Case report: FAS mutation (Leu242Pro) with elevated DNT (double negative T lymphocytes) in a patient presenting with ALPS (autoimmune lymphoproliferative syndrome)

Pag. 32-47

Pădure Sergiu¹, Pastor Cali Maia², Ibanez Garcia Angela³, Lopez Granados Eduardo⁴, Bravo Garcia-Morato Maria⁴, Matas Perez Elisabet⁴, Fernandez-Cruz Perez Eduardo⁵

¹ HM Hospitales Montepríncipe, Madrid,
² Universidad CEU San Pablo, Madrid,
³ Complejo Hospitalario Universitario de Albacete,
⁴ Spitalul Universitar La Paz, Madrid,
⁵ Hospital General Universitario Gregorio, Marañón, Madrid

Disponibil în IBN: 12 februarie 2024

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Cuvinte-cheie
sindrom limfoproliferativ autoimun, gena FAS, celule T dublu negative,

autoimmune lymphoproliferative syndrome, FAS gene, double negative T cells

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