Detalhe da pesquisa
1.
Soluble Interleukin-2 Receptor Is a Promising Serum Biomarker for Granulomatous Disease in Common Variable Immune Deficiency.
J Clin Immunol
; 41(3): 694-697, 2021 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-33404971
2.
The 11q Terminal Deletion Disorder Jacobsen Syndrome is a Syndromic Primary Immunodeficiency.
J Clin Immunol
; 35(8): 761-8, 2015 Nov.
Artigo
em Inglês
| MEDLINE | ID: mdl-26566921
3.
B-cell development and functions and therapeutic options in adenosine deaminase-deficient patients.
J Allergy Clin Immunol
; 133(3): 799-806.e10, 2014 Mar.
Artigo
em Inglês
| MEDLINE | ID: mdl-24506932
4.
Anti-TNF treatment blocks the induction of T cell-dependent humoral responses.
Ann Rheum Dis
; 72(6): 1037-43, 2013 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-22968102
5.
B-cell replication history and somatic hypermutation status identify distinct pathophysiologic backgrounds in common variable immunodeficiency.
Blood
; 118(26): 6814-23, 2011 Dec 22.
Artigo
em Inglês
| MEDLINE | ID: mdl-22042693
6.
A reversion of an IL2RG mutation in combined immunodeficiency providing competitive advantage to the majority of CD8+ T cells.
Haematologica
; 98(7): 1030-8, 2013 Jul.
Artigo
em Inglês
| MEDLINE | ID: mdl-23403317
7.
Common variable immunodeficiency and idiopathic primary hypogammaglobulinemia: two different conditions within the same disease spectrum.
Haematologica
; 98(10): 1617-23, 2013 Oct.
Artigo
em Inglês
| MEDLINE | ID: mdl-23753020
8.
Loss of juxtaposition of RAG-induced immunoglobulin DNA ends is implicated in the precursor B-cell differentiation defect in NBS patients.
Blood
; 115(23): 4770-7, 2010 Jun 10.
Artigo
em Inglês
| MEDLINE | ID: mdl-20378756
9.
Increased PI3K/Akt activity and deregulated humoral immune response in human PTEN deficiency.
J Allergy Clin Immunol
; 138(6): 1744-1747.e5, 2016 12.
Artigo
em Inglês
| MEDLINE | ID: mdl-27531073
10.
Rapid Low-Cost Microarray-Based Genotyping for Genetic Screening in Primary Immunodeficiency.
Front Immunol
; 11: 614, 2020.
Artigo
em Inglês
| MEDLINE | ID: mdl-32373116
11.
EuroFlow Standardized Approach to Diagnostic Immunopheneotyping of Severe PID in Newborns and Young Children.
Front Immunol
; 11: 371, 2020.
Artigo
em Inglês
| MEDLINE | ID: mdl-32265901
12.
The Clinical and Genetic Spectrum of 82 Patients With RAG Deficiency Including a c.256_257delAA Founder Variant in Slavic Countries.
Front Immunol
; 11: 900, 2020.
Artigo
em Inglês
| MEDLINE | ID: mdl-32655540
13.
A new type of radiosensitive T-B-NK+ severe combined immunodeficiency caused by a LIG4 mutation.
J Clin Invest
; 116(1): 137-45, 2006 Jan.
Artigo
em Inglês
| MEDLINE | ID: mdl-16357942
14.
Clinical heterogeneity can hamper the diagnosis of patients with ZAP70 deficiency.
Eur J Pediatr
; 168(1): 87-93, 2009 Jan.
Artigo
em Inglês
| MEDLINE | ID: mdl-18509675
15.
Endocrine Disorders Are Prominent Clinical Features in Patients With Primary Antibody Deficiencies.
Front Immunol
; 10: 2079, 2019.
Artigo
em Inglês
| MEDLINE | ID: mdl-31543881
16.
B-cell recovery after stem cell transplantation of Artemis-deficient SCID requires elimination of autologous bone marrow precursor-B-cells.
Haematologica
; 91(12): 1705-9, 2006 Dec.
Artigo
em Inglês
| MEDLINE | ID: mdl-17145611
17.
Defective Artemis nuclease is characterized by coding joints with microhomology in long palindromic-nucleotide stretches.
Eur J Immunol
; 37(12): 3522-8, 2007 Dec.
Artigo
em Inglês
| MEDLINE | ID: mdl-18034425
18.
Ig gene rearrangement steps are initiated in early human precursor B cell subsets and correlate with specific transcription factor expression.
J Immunol
; 175(9): 5912-22, 2005 Nov 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-16237084
19.
Unraveling of the polymorphic C lambda 2-C lambda 3 amplification and the Ke+Oz- polymorphism in the human Ig lambda locus.
J Immunol
; 169(1): 271-6, 2002 Jul 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-12077254