000			nab a22 7a 4500
999			_c16912 _d16912
003			PC16912
005			20220617131337.0
008			220617b xxu||||| |||| 00| 0 eng d
040			_cH12O
041			_aeng
100			_92463 _aRuiz García, Raquel _eInmunología
100			_91986 _aMora Diaz, Sergio _eInmunología
100			_91510 _aPaz Artal, Estela _eInmunología
100			_9811 _aRuiz Contreras, Jesús _ePediatría
100			_9831 _aGonzález Granados, Luis Ignacio _ePediatría
100			_91508 _aAllende Martínez, Luis Miguel _eInmunología
245	0	0	_aDecreased activation-induced cell death by EBV-transformed B-cells from a patient with autoimmune lymphoproliferative syndrome caused by a novel FASLG mutation. _h[caso clínico]
260			_bPediatric research, _c2015
300			_a78(6):603-8.
500			_aFormato Vancouver: Ruiz García R, Mora S, Lozano Sánchez G, Martínez Lostao L, Paz Artal E, Ruiz Contreras J et al. Decreased activation-induced cell death by EBV-transformed B-cells from a patient with autoimmune lymphoproliferative syndrome caused by a novel FASLG mutation. Pediatr Res. 2015 Dec;78(6):603-8.
501			_aPMID: 26334989
504			_aContiene 19 referencias
520			_aBackground: Autoimmune lymphoproliferative syndrome (ALPS) is a primary immunodeficiency characterized by chronic lymphoproliferation, autoimmune manifestations, expansion of double-negative T-cells, and susceptibility to malignancies. Most cases of ALPS are caused by germline or somatic FAS mutations. We report the case of an ALPS patient due to a novel homozygous Fasligand gene mutation (ALPS-FASLG). Methods: ALPS biomarkers were measured and FASLG mutation was identified. Functional characterization was carried out based on activation-induced cell death (AICD) and cytotoxicity assays. Results: This report describes the cases of a patient who presented a severe form of ALPS-FASLG, and his brother who had died due to complications related to ALPS. Moreover, in another family, we present the first case of lymphoma in a patient with ALPS-FASLG. Functional studies showed defective Fasligand-mediated apoptosis, cytotoxicity, and AICD in T-cell blasts. Otherwise, expression of the FASLG gene and corresponding protein was normal, but the shedding of the Fasligand was impaired in T-cells. Additionally, analyzing Epstein-Barr virus (EBV)-transformed B-cells, our results indicate impaired AICD in ALPS-FASLG patients. Conclusion: Patients with autosomal recessive inheritance of ALPS-FASLG have a severe phenotype and a partial defect in AICD in T- and B-cell lines. The Fasligand could play a key role in immune surveillance preventing malignancy.
710			_9446 _aServicio de Pediatría-Neonatología
710			_9395 _aServicio de Inmunología
710			_9625 _aInstituto de Investigación imas12
856			_uhttp://pc-h12o-es.m-hdoct.a17.csinet.es/pdf/pc/1/pc16912.pdf _ySolicitar documento
942			_2ddc _cCAS _n0