Detalhe da pesquisa
1.
B-cell differentiation and IL-21 response in IL2RG/JAK3 SCID patients after hematopoietic stem cell transplantation.
Blood
; 131(26): 2967-2977, 2018 06 28.
Artigo
em Inglês
| MEDLINE | ID: mdl-29728406
2.
SCID genotype and 6-month posttransplant CD4 count predict survival and immune recovery.
Blood
; 132(17): 1737-1749, 2018 10 25.
Artigo
em Inglês
| MEDLINE | ID: mdl-30154114
3.
Ruxolitinib partially reverses functional natural killer cell deficiency in patients with signal transducer and activator of transcription 1 (STAT1) gain-of-function mutations.
J Allergy Clin Immunol
; 141(6): 2142-2155.e5, 2018 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-29111217
4.
High Incidence of Autoimmune Disease after Hematopoietic Stem Cell Transplantation for Chronic Granulomatous Disease.
Biol Blood Marrow Transplant
; 24(8): 1643-1650, 2018 08.
Artigo
em Inglês
| MEDLINE | ID: mdl-29630926
5.
Improved diagnostic clarity in shrimp allergic non-dust-mite sensitized patients.
Allergy Asthma Proc
; 39(5): 377-383, 2018 Sep 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-30153888
6.
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.
Artigo
em Inglês
| MEDLINE | ID: mdl-28139313
7.
Long-term outcomes of 176 patients with X-linked hyper-IgM syndrome treated with or without hematopoietic cell transplantation.
J Allergy Clin Immunol
; 139(4): 1282-1292, 2017 Apr.
Artigo
em Inglês
| MEDLINE | ID: mdl-27697500
8.
Transplantation outcomes for severe combined immunodeficiency, 2000-2009.
N Engl J Med
; 371(5): 434-46, 2014 Jul 31.
Artigo
em Inglês
| MEDLINE | ID: mdl-25075835
9.
Rapid molecular diagnostics of severe primary immunodeficiency determined by using targeted next-generation sequencing.
J Allergy Clin Immunol
; 138(4): 1142-1151.e2, 2016 10.
Artigo
em Inglês
| MEDLINE | ID: mdl-27484032
10.
Molecular mechanisms of functional natural killer deficiency in patients with partial DiGeorge syndrome.
J Allergy Clin Immunol
; 135(5): 1293-302, 2015 May.
Artigo
em Inglês
| MEDLINE | ID: mdl-25748067
11.
A 15-year-old boy with severe combined immunodeficiency, fungal infection, and weight gain.
Allergy Asthma Proc
; 36(5): 407-11, 2015.
Artigo
em Inglês
| MEDLINE | ID: mdl-26314823
12.
Defective actin accumulation impairs human natural killer cell function in patients with dedicator of cytokinesis 8 deficiency.
J Allergy Clin Immunol
; 131(3): 840-8, 2013 Mar.
Artigo
em Inglês
| MEDLINE | ID: mdl-23380217
13.
Excellent survival after sibling or unrelated donor stem cell transplantation for chronic granulomatous disease.
J Allergy Clin Immunol
; 129(1): 176-83, 2012 Jan.
Artigo
em Inglês
| MEDLINE | ID: mdl-22078471
14.
Abdominal cocoon: a unique presentation in an immunodeficient infant.
Pediatr Radiol
; 42(2): 263-6, 2012 Feb.
Artigo
em Inglês
| MEDLINE | ID: mdl-21713442
15.
A novel Rab27a mutation binds melanophilin, but not Munc13-4, causing immunodeficiency without albinism.
J Allergy Clin Immunol
; 138(2): 599-601.e3, 2016 08.
Artigo
em Inglês
| MEDLINE | ID: mdl-27016801
16.
Hematopoietic stem cell transplantation for CD3δ deficiency.
J Allergy Clin Immunol
; 128(5): 1050-7, 2011 Nov.
Artigo
em Inglês
| MEDLINE | ID: mdl-21757226
17.
Severe Combined Immunodeficiency with De Novo Duchenne Muscular Dystrophy Mutation.
JPGN Rep
; 3(1): e135, 2022 Feb.
Artigo
em Inglês
| MEDLINE | ID: mdl-37168752
18.
FOXN1 forms higher-order nuclear condensates displaced by mutations causing immunodeficiency.
Sci Adv
; 7(49): eabj9247, 2021 Dec 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-34860543
19.
Severe cutaneous human papillomavirus infection associated with natural killer cell deficiency following stem cell transplantation for severe combined immunodeficiency.
J Allergy Clin Immunol
; 134(6): 1451-1453.e1, 2014 Dec.
Artigo
em Inglês
| MEDLINE | ID: mdl-25159470
20.
Hemophagocytic lymphohistiocytosis in a patient with x-linked lymphoproliferative disease.
Allergy Asthma Proc
; 30(4): 458-62, 2009.
Artigo
em Inglês
| MEDLINE | ID: mdl-19772767