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1.
Dominant-activating germline mutations in the gene encoding the PI(3)K catalytic subunit p110δ result in T cell senescence and human immunodeficiency.
Nat Immunol
; 15(1): 88-97, 2014 Jan.
Artículo
en Inglés
| MEDLINE | ID: mdl-24165795
2.
TCF3 haploinsufficiency defined by immune, clinical, gene-dosage, and murine studies.
J Allergy Clin Immunol
; 152(3): 736-747, 2023 09.
Artículo
en Inglés
| MEDLINE | ID: mdl-37277074
3.
Germline IKAROS dimerization haploinsufficiency causes hematologic cytopenias and malignancies.
Blood
; 137(3): 349-363, 2021 01 21.
Artículo
en Inglés
| MEDLINE | ID: mdl-32845957
4.
Cushing syndrome and glucocorticoids: T-cell lymphopenia, apoptosis, and rescue by IL-21.
J Allergy Clin Immunol
; 149(1): 302-314, 2022 01.
Artículo
en Inglés
| MEDLINE | ID: mdl-34089750
5.
A Nonsense N -Terminus NFKB2 Mutation Leading to Haploinsufficiency in a Patient with a Predominantly Antibody Deficiency.
J Clin Immunol
; 40(8): 1093-1101, 2020 11.
Artículo
en Inglés
| MEDLINE | ID: mdl-32813180
6.
Correction to: A Nonsense N -Terminus NFKB2 Mutation Leading to Haploinsufficiency in a Patient with a Predominantly Antibody Deficiency.
J Clin Immunol
; 40(8): 1102, 2020 Nov.
Artículo
en Inglés
| MEDLINE | ID: mdl-32901356
7.
Flow cytometry: Surface markers and beyond.
J Allergy Clin Immunol
; 143(2): 528-537, 2019 02.
Artículo
en Inglés
| MEDLINE | ID: mdl-30170120
8.
Novel nonsense gain-of-function NFKB2 mutations associated with a combined immunodeficiency phenotype.
Blood
; 130(13): 1553-1564, 2017 09 28.
Artículo
en Inglés
| MEDLINE | ID: mdl-28778864
9.
90Y-daclizumab, an anti-CD25 monoclonal antibody, provided responses in 50% of patients with relapsed Hodgkin's lymphoma.
Proc Natl Acad Sci U S A
; 112(42): 13045-50, 2015 Oct 20.
Artículo
en Inglés
| MEDLINE | ID: mdl-26438866
10.
Targeted strategies directed at the molecular defect: Toward precision medicine for select primary immunodeficiency disorders.
J Allergy Clin Immunol
; 139(3): 715-723, 2017 Mar.
Artículo
en Inglés
| MEDLINE | ID: mdl-28270363
11.
The microbiome in allergic disease: Current understanding and future opportunities-2017 PRACTALL document of the American Academy of Allergy, Asthma & Immunology and the European Academy of Allergy and Clinical Immunology.
J Allergy Clin Immunol
; 139(4): 1099-1110, 2017 Apr.
Artículo
en Inglés
| MEDLINE | ID: mdl-28257972
12.
Ruxolitinib reverses dysregulated T helper cell responses and controls autoimmunity caused by a novel signal transducer and activator of transcription 1 (STAT1) gain-of-function mutation.
J Allergy Clin Immunol
; 139(5): 1629-1640.e2, 2017 May.
Artículo
en Inglés
| MEDLINE | ID: mdl-28139313
13.
Recommendations for Screening and Management of Late Effects in Patients with Severe Combined Immunodeficiency after Allogenic Hematopoietic Cell Transplantation: A Consensus Statement from the Second Pediatric Blood and Marrow Transplant Consortium International Conference on Late Effects after Pediatric HCT.
Biol Blood Marrow Transplant
; 23(8): 1229-1240, 2017 Aug.
Artículo
en Inglés
| MEDLINE | ID: mdl-28479164
14.
Current Knowledge and Priorities for Future Research in Late Effects after Hematopoietic Stem Cell Transplantation (HCT) for Severe Combined Immunodeficiency Patients: A Consensus Statement from the Second Pediatric Blood and Marrow Transplant Consortium International Conference on Late Effects after Pediatric HCT.
Biol Blood Marrow Transplant
; 23(3): 379-387, 2017 Mar.
Artículo
en Inglés
| MEDLINE | ID: mdl-28068510
15.
Transplantation outcomes for severe combined immunodeficiency, 2000-2009.
N Engl J Med
; 371(5): 434-46, 2014 Jul 31.
Artículo
en Inglés
| MEDLINE | ID: mdl-25075835
16.
JMML and RALD (Ras-associated autoimmune leukoproliferative disorder): common genetic etiology yet clinically distinct entities.
Blood
; 125(18): 2753-8, 2015 Apr 30.
Artículo
en Inglés
| MEDLINE | ID: mdl-25691160
17.
Acute GVHD in patients receiving IL-15/4-1BBL activated NK cells following T-cell-depleted stem cell transplantation.
Blood
; 125(5): 784-92, 2015 Jan 29.
Artículo
en Inglés
| MEDLINE | ID: mdl-25452614
18.
Natural history of autoimmune lymphoproliferative syndrome associated with FAS gene mutations.
Blood
; 123(13): 1989-99, 2014 Mar 27.
Artículo
en Inglés
| MEDLINE | ID: mdl-24398331
19.
A phase 1 clinical trial of long-term, low-dose treatment of WHIM syndrome with the CXCR4 antagonist plerixafor.
Blood
; 123(15): 2308-16, 2014 Apr 10.
Artículo
en Inglés
| MEDLINE | ID: mdl-24523241
20.
Loss-of-function of the protein kinase C δ (PKCδ) causes a B-cell lymphoproliferative syndrome in humans.
Blood
; 121(16): 3117-25, 2013 Apr 18.
Artículo
en Inglés
| MEDLINE | ID: mdl-23430113