Detalhe da pesquisa
1.
Wiskott-Aldrich syndrome: a study of 577 patients defines the genotype as a biomarker for disease severity and survival.
Blood
; 143(24): 2504-2516, 2024 Jun 13.
Artigo
em Inglês
| MEDLINE | ID: mdl-38579284
2.
Clinical, immunological, molecular and therapeutic findings in monogenic immune dysregulation diseases: Middle East and North Africa registry.
Clin Immunol
; 244: 109131, 2022 11.
Artigo
em Inglês
| MEDLINE | ID: mdl-36179983
3.
Comparing the levels of CTLA-4-dependent biological defects in patients with LRBA deficiency and CTLA-4 insufficiency.
Allergy
; 77(10): 3108-3123, 2022 10.
Artigo
em Inglês
| MEDLINE | ID: mdl-35491430
4.
Genetic Analysis of a Cohort of 275 Patients with Hyper-IgE Syndromes and/or Chronic Mucocutaneous Candidiasis.
J Clin Immunol
; 41(8): 1804-1838, 2021 11.
Artigo
em Inglês
| MEDLINE | ID: mdl-34390440
5.
Simple Measurement of IgA Predicts Immunity and Mortality in Ataxia-Telangiectasia.
J Clin Immunol
; 41(8): 1878-1892, 2021 11.
Artigo
em Inglês
| MEDLINE | ID: mdl-34477998
6.
Genotype and functional correlates of disease phenotype in deficiency of adenosine deaminase 2 (DADA2).
J Allergy Clin Immunol
; 145(6): 1664-1672.e10, 2020 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-31945408
7.
Delayed Puberty and Gonadal Failure in Patients with HAX1 Mutation.
J Clin Immunol
; 37(6): 524-528, 2017 Aug.
Artigo
em Inglês
| MEDLINE | ID: mdl-28681255
8.
Juvenile Idiopathic Inflammatory Myopathy in a Patient With Dyskeratosis Congenita Due to C16orf57 Mutation.
J Pediatr Hematol Oncol
; 38(2): e75-7, 2016 Mar.
Artigo
em Inglês
| MEDLINE | ID: mdl-26535771
9.
Functional STAT3 deficiency compromises the generation of human T follicular helper cells.
Blood
; 119(17): 3997-4008, 2012 Apr 26.
Artigo
em Inglês
| MEDLINE | ID: mdl-22403255
10.
Activation-induced cytidine deaminase (AID) is required for B-cell tolerance in humans.
Proc Natl Acad Sci U S A
; 108(28): 11554-9, 2011 Jul 12.
Artigo
em Inglês
| MEDLINE | ID: mdl-21700883
11.
Human CD3γ, but not CD3δ, haploinsufficiency differentially impairs γδ versus αß surface TCR expression.
BMC Immunol
; 14: 3, 2013 Jan 21.
Artigo
em Inglês
| MEDLINE | ID: mdl-23336327
12.
The prevalences [correction] and patient characteristics of primary immunodeficiency diseases in Turkey--two centers study.
J Clin Immunol
; 33(1): 74-83, 2013 Jan.
Artigo
em Inglês
| MEDLINE | ID: mdl-22983506
13.
A patient with tyrosine kinase 2 deficiency without hyper-IgE syndrome.
J Pediatr
; 160(6): 1055-7, 2012 Jun.
Artigo
em Inglês
| MEDLINE | ID: mdl-22402565
14.
Impaired IL-23-dependent induction of IFN-γ underlies mycobacterial disease in patients with inherited TYK2 deficiency.
J Exp Med
; 219(10)2022 10 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-36094518
15.
Human osteoclast-poor osteopetrosis with hypogammaglobulinemia due to TNFRSF11A (RANK) mutations.
Am J Hum Genet
; 83(1): 64-76, 2008 Jul.
Artigo
em Inglês
| MEDLINE | ID: mdl-18606301
16.
Anti-Tumor Necrosis Factor Treatment in the Management of Pediatric Noninfectious Uveitis: Infliximab Versus Adalimumab.
J Ocul Pharmacol Ther
; 37(4): 236-240, 2021 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-33512278
17.
Hematopoietic Stem Cell Transplantation Positively Affects the Natural History of Cancer in Nijmegen Breakage Syndrome.
Clin Cancer Res
; 27(2): 575-584, 2021 01 15.
Artigo
em Inglês
| MEDLINE | ID: mdl-33082212
18.
The clinical spectrum of leukocyte adhesion deficiency (LAD) III due to defective CalDAG-GEF1.
J Clin Immunol
; 29(1): 117-22, 2009 Jan.
Artigo
em Inglês
| MEDLINE | ID: mdl-18709451
19.
Abatacept as a Long-Term Targeted Therapy for LRBA Deficiency.
J Allergy Clin Immunol Pract
; 7(8): 2790-2800.e15, 2019.
Artigo
em Inglês
| MEDLINE | ID: mdl-31238161
20.
Toll-like receptor stimulation induces higher TNF-alpha secretion in peripheral blood mononuclear cells from patients with hyper IgE syndrome.
Int Arch Allergy Immunol
; 146(3): 190-4, 2008.
Artigo
em Inglês
| MEDLINE | ID: mdl-18268386