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1.
Abnormal biomarkers predict complex FAS or FADD defects missed by exome sequencing.
J Allergy Clin Immunol
; 153(1): 297-308.e12, 2024 01.
Artículo
en Inglés
| MEDLINE | ID: mdl-37979702
2.
Revisiting autoimmune lymphoproliferative syndrome caused by Fas ligand mutations.
J Allergy Clin Immunol
; 151(5): 1391-1401.e7, 2023 05.
Artículo
en Inglés
| MEDLINE | ID: mdl-36621650
3.
Primary and secondary hemophagocytic lymphohistiocytosis have different patterns of T-cell activation, differentiation and repertoire.
Eur J Immunol
; 47(2): 364-373, 2017 02.
Artículo
en Inglés
| MEDLINE | ID: mdl-27925643
4.
CD57 identifies T cells with functional senescence before terminal differentiation and relative telomere shortening in patients with activated PI3 kinase delta syndrome.
Immunol Cell Biol
; 96(10): 1060-1071, 2018 11.
Artículo
en Inglés
| MEDLINE | ID: mdl-29790605
5.
Hyperactive mTOR pathway promotes lymphoproliferation and abnormal differentiation in autoimmune lymphoproliferative syndrome.
Blood
; 128(2): 227-38, 2016 07 14.
Artículo
en Inglés
| MEDLINE | ID: mdl-27099149
6.
Effective Immunological Guidance of Genetic Analyses Including Exome Sequencing in Patients Evaluated for Hemophagocytic Lymphohistiocytosis.
J Clin Immunol
; 37(8): 770-780, 2017 Nov.
Artículo
en Inglés
| MEDLINE | ID: mdl-28936583
7.
Abnormally differentiated CD4+ or CD8+ T cells with phenotypic and genetic features of double negative T cells in human Fas deficiency.
Blood
; 124(6): 851-60, 2014 Aug 07.
Artículo
en Inglés
| MEDLINE | ID: mdl-24894771
8.
ß2-Microglobulin deficiency causes a complex immunodeficiency of the innate and adaptive immune system.
J Allergy Clin Immunol
; 136(2): 392-401, 2015 Aug.
Artículo
en Inglés
| MEDLINE | ID: mdl-25702838
9.
Functional flow cytometry of monocytes for routine diagnosis of innate primary immunodeficiencies.
J Allergy Clin Immunol
; 145(1): 434-437.e4, 2020 01.
Artículo
en Inglés
| MEDLINE | ID: mdl-31526803
10.
Novel Patient with Late-Onset Familial Hemophagocytic Lymphohistiocytosis with STXBP2 Mutations Presenting with Autoimmune Hepatitis, Neurological Manifestations and Infections Associated with Hypogammaglobulinemia.
J Clin Immunol
; 35(1): 22-5, 2015 Jan.
Artículo
en Inglés
| MEDLINE | ID: mdl-25491289
11.
Patients with Tâº/low NK⺠IL-2 receptor γ chain deficiency have differentially-impaired cytokine signaling resulting in severe combined immunodeficiency.
Eur J Immunol
; 44(10): 3129-40, 2014 Oct.
Artículo
en Inglés
| MEDLINE | ID: mdl-25042067
12.
Deficiency of caspase recruitment domain family, member 11 (CARD11), causes profound combined immunodeficiency in human subjects.
J Allergy Clin Immunol
; 131(2): 477-85.e1, 2013 Feb.
Artículo
en Inglés
| MEDLINE | ID: mdl-23374270
13.
Sequential decisions on FAS sequencing guided by biomarkers in patients with lymphoproliferation and autoimmune cytopenia.
Haematologica
; 98(12): 1948-55, 2013 Dec.
Artículo
en Inglés
| MEDLINE | ID: mdl-23850805
14.
Gray platelet syndrome can mimic autoimmune lymphoproliferative syndrome.
Blood
; 126(16): 1967-9, 2015 Oct 15.
Artículo
en Inglés
| MEDLINE | ID: mdl-26472737
15.
Evolution of disease activity and biomarkers on and off rapamycin in 28 patients with autoimmune lymphoproliferative syndrome.
Haematologica
; 102(2): e52-e56, 2017 02.
Artículo
en Inglés
| MEDLINE | ID: mdl-27789675
16.
Case Report: Hemophagocytic Lymphohistiocytosis and Non-Tuberculous Mycobacteriosis Caused by a Novel GATA2 Variant.
Front Immunol
; 12: 682934, 2021.
Artículo
en Inglés
| MEDLINE | ID: mdl-34040617
17.
A distinct CD38+CD45RA+ population of CD4+, CD8+, and double-negative T cells is controlled by FAS.
J Exp Med
; 218(2)2021 02 01.
Artículo
en Inglés
| MEDLINE | ID: mdl-33170215
18.
Mirror syndrome: a systematic review of fetal associated conditions, maternal presentation and perinatal outcome.
Fetal Diagn Ther
; 27(4): 191-203, 2010.
Artículo
en Inglés
| MEDLINE | ID: mdl-20357423
19.
Altered T-Lymphocyte Biology Following High-Dose Melphalan and Autologous Stem Cell Transplantation With Implications for Adoptive T-Cell Therapy.
Front Oncol
; 10: 568056, 2020.
Artículo
en Inglés
| MEDLINE | ID: mdl-33363008
20.
Circulating vascular endothelial growth factors and their soluble receptors in pre-invasive, invasive and recurrent cervical cancer.
Anticancer Res
; 29(2): 641-5, 2009 Feb.
Artículo
en Inglés
| MEDLINE | ID: mdl-19331214