Detalhe da pesquisa
1.
Clinical and functional spectrum of RAC2-related immunodeficiency.
Blood
; 143(15): 1476-1487, 2024 Apr 11.
Artigo
em Inglês
| MEDLINE | ID: mdl-38194689
2.
Posttransplantation late complications increase over time for patients with SCID: A Primary Immune Deficiency Treatment Consortium (PIDTC) landmark study.
J Allergy Clin Immunol
; 153(1): 287-296, 2024 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-37793572
3.
Relevance of lymphocyte proliferation to PHA in severe combined immunodeficiency (SCID) and T cell lymphopenia.
Clin Immunol
; 261: 109942, 2024 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-38367737
4.
Treatment with Elapegademase Restores Immunity in Infants with Adenosine Deaminase Deficient Severe Combined Immunodeficiency.
J Clin Immunol
; 44(5): 107, 2024 Apr 27.
Artigo
em Inglês
| MEDLINE | ID: mdl-38676811
5.
Intestinal microbiome and metabolome signatures in patients with chronic granulomatous disease.
J Allergy Clin Immunol
; 152(6): 1619-1633.e11, 2023 12.
Artigo
em Inglês
| MEDLINE | ID: mdl-37659505
6.
Monogenic early-onset lymphoproliferation and autoimmunity: Natural history of STAT3 gain-of-function syndrome.
J Allergy Clin Immunol
; 151(4): 1081-1095, 2023 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-36228738
7.
Dominant Splice Site Mutations in PIK3R1 Cause Hyper IgM Syndrome, Lymphadenopathy and Short Stature.
J Clin Immunol
; 36(5): 462-71, 2016 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-27076228
8.
A nonsense mutation in IKBKB causes combined immunodeficiency.
Blood
; 124(13): 2046-50, 2014 Sep 25.
Artigo
em Inglês
| MEDLINE | ID: mdl-25139357
9.
Bone marrow transplantation for CVID-like humoral immune deficiency associated with red cell aplasia.
Pediatr Blood Cancer
; 63(10): 1856-9, 2016 10.
Artigo
em Inglês
| MEDLINE | ID: mdl-27273469
10.
Pediatric oral food challenges in the outpatient setting: A single-center experience.
J Allergy Clin Immunol Glob
; 3(1): 100187, 2024 Feb.
Artigo
em Inglês
| MEDLINE | ID: mdl-38187866
11.
Case Report: Profound newborn leukopenia related to a novel RAC2 variant.
Front Pediatr
; 12: 1365187, 2024.
Artigo
em Inglês
| MEDLINE | ID: mdl-38516355
12.
Team Approach: Metal Hypersensitivity in Total Joint Arthroplasty.
JBJS Rev
; 11(1)2023 01 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-36722837
13.
CLN5 and CLN8 protein association with ceramide synthase: biochemical and proteomic approaches.
Electrophoresis
; 33(24): 3798-809, 2012 Dec.
Artigo
em Inglês
| MEDLINE | ID: mdl-23160995
14.
Synergistic control of T cell development and tumor suppression by diacylglycerol kinase alpha and zeta.
Proc Natl Acad Sci U S A
; 105(33): 11909-14, 2008 Aug 19.
Artigo
em Inglês
| MEDLINE | ID: mdl-18689679
15.
Clinical application of whole-genome sequencing in patients with primary immunodeficiency.
J Allergy Clin Immunol
; 136(2): 476-9.e6, 2015 Aug.
Artigo
em Inglês
| MEDLINE | ID: mdl-25981738
16.
Clinical implications of inherited chromosomally integrated HHV-6 in the setting of ADA-deficient severe combined immunodeficiency (SCID).
J Allergy Clin Immunol Pract
; 11(11): 3553-3555.e1, 2023 11.
Artigo
em Inglês
| MEDLINE | ID: mdl-37567344
17.
Future therapies for food allergy.
Hum Vaccin Immunother
; 8(10): 1479-84, 2012 Oct.
Artigo
em Inglês
| MEDLINE | ID: mdl-22894951
18.
CLN3p impacts galactosylceramide transport, raft morphology, and lipid content.
Pediatr Res
; 63(6): 625-31, 2008 Jun.
Artigo
em Inglês
| MEDLINE | ID: mdl-18317235
19.
Neuronal ceroid lipofuscinosis: a common pathway?
Pediatr Res
; 61(2): 146-52, 2007 Feb.
Artigo
em Inglês
| MEDLINE | ID: mdl-17237713
20.
Ceramide regulates SR protein phosphorylation during adenoviral infection.
Virology
; 345(1): 280-9, 2006 Feb 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-16271740