Detalhe da pesquisa
1.
Reticular dysgenesis: international survey on clinical presentation, transplantation, and outcome.
Blood
; 129(21): 2928-2938, 2017 05 25.
Artigo
em Inglês
| MEDLINE | ID: mdl-28331055
2.
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
3.
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
4.
Primary immunodeficiency diseases: Genomic approaches delineate heterogeneous Mendelian disorders.
J Allergy Clin Immunol
; 139(1): 232-245, 2017 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-27577878
5.
Potocki-Shaffer syndrome in a child without intellectual disability-The role of PHF21A in cognitive function.
Am J Med Genet A
; 173(3): 716-720, 2017 Mar.
Artigo
em Inglês
| MEDLINE | ID: mdl-28127865
6.
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
7.
Compound heterozygous CORO1A mutations in siblings with a mucocutaneous-immunodeficiency syndrome of epidermodysplasia verruciformis-HPV, molluscum contagiosum and granulomatous tuberculoid leprosy.
J Clin Immunol
; 34(7): 871-90, 2014 Oct.
Artigo
em Inglês
| MEDLINE | ID: mdl-25073507
8.
Primary Sclerosing Cholangitis.
N Engl J Med
; 375(25): 2501, 2016 12 22.
Artigo
em Inglês
| MEDLINE | ID: mdl-28002708
9.
Vaccine-acquired rotavirus in infants with severe combined immunodeficiency.
N Engl J Med
; 362(4): 314-9, 2010 Jan 28.
Artigo
em Inglês
| MEDLINE | ID: mdl-20107217
10.
Combined immunodeficiency caused by pathogenic variants in the ZAP70 C-terminal SH2 domain.
Front Immunol
; 14: 1155883, 2023.
Artigo
em Inglês
| MEDLINE | ID: mdl-37313400
11.
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
12.
Deconstructing the Way We Use Pulmonary Function Test Race-Based Adjustments.
J Allergy Clin Immunol Pract
; 10(4): 972-978, 2022 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-35184982
13.
PI Prob: A risk prediction and clinical guidance system for evaluating patients with recurrent infections.
PLoS One
; 16(2): e0237285, 2021.
Artigo
em Inglês
| MEDLINE | ID: mdl-33591972
14.
Rubella Virus Infected Macrophages and Neutrophils Define Patterns of Granulomatous Inflammation in Inborn and Acquired Errors of Immunity.
Front Immunol
; 12: 796065, 2021.
Artigo
em Inglês
| MEDLINE | ID: mdl-35003119
15.
Outcomes of patients with severe combined immunodeficiency treated with hematopoietic stem cell transplantation with and without preconditioning.
J Allergy Clin Immunol
; 124(5): 1062-9.e1-4, 2009 Nov.
Artigo
em Inglês
| MEDLINE | ID: mdl-19895994
16.
Case Report: Secondary Hemophagocytic Lymphohistiocytosis With Disseminated Infection in Chronic Granulomatous Disease-A Serious Cause of Mortality.
Front Immunol
; 11: 581475, 2020.
Artigo
em Inglês
| MEDLINE | ID: mdl-33362767
17.
Development of specific T-cell responses to Candida and tetanus antigens in partial DiGeorge syndrome.
J Allergy Clin Immunol
; 122(6): 1194-9, 2008 Dec.
Artigo
em Inglês
| MEDLINE | ID: mdl-18789819
18.
Basidiomycetous fungal Inonotus tropicalis sacral osteomyelitis in X-linked chronic granulomatous disease.
Pediatr Infect Dis J
; 26(7): 655-6, 2007 Jul.
Artigo
em Inglês
| MEDLINE | ID: mdl-17596815
19.
Autoimmunity in a cohort of 130 pediatric patients with partial DiGeorge syndrome.
J Allergy Clin Immunol
; 128(5): 1115-7.e1-3, 2011 Nov.
Artigo
em Inglês
| MEDLINE | ID: mdl-21835443
20.
Reply to "How to deconstruct 'race' and spirometry".
J Allergy Clin Immunol Pract
; 10(9): 2489-2491, 2022 09.
Artigo
em Inglês
| MEDLINE | ID: mdl-36087950