Detalhe da pesquisa
1.
Chemotherapy for a secondary malignancy nearly restores complete chimerism in an SCID-patient after HSCT.
Clin Immunol
; 259: 109891, 2024 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-38185266
2.
Biomarkers of DNA Damage Response Enable Flow Cytometry-Based Diagnostic to Identify Inborn DNA Repair Defects in Primary Immunodeficiencies.
J Clin Immunol
; 42(2): 286-298, 2022 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-34716846
3.
Increased proportions of γδ T lymphocytes in atypical SCID associate with disease manifestations.
Clin Immunol
; 201: 30-34, 2019 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-30776520
4.
Inherited DOCK2 Deficiency in Patients with Early-Onset Invasive Infections.
N Engl J Med
; 372(25): 2409-22, 2015 Jun 18.
Artigo
em Inglês
| MEDLINE | ID: mdl-26083206
5.
Modeling altered T-cell development with induced pluripotent stem cells from patients with RAG1-dependent immune deficiencies.
Blood
; 128(6): 783-93, 2016 08 11.
Artigo
em Inglês
| MEDLINE | ID: mdl-27301863
6.
DNA-PKcs Is Involved in Ig Class Switch Recombination in Human B Cells.
J Immunol
; 195(12): 5608-15, 2015 Dec 15.
Artigo
em Inglês
| MEDLINE | ID: mdl-26546606
7.
PLA2R-positive (primary) membranous nephropathy in a child with IPEX syndrome.
Pediatr Nephrol
; 32(9): 1621-1624, 2017 09.
Artigo
em Inglês
| MEDLINE | ID: mdl-28488220
8.
Differential role of nonhomologous end joining factors in the generation, DNA damage response, and myeloid differentiation of human induced pluripotent stem cells.
Proc Natl Acad Sci U S A
; 111(24): 8889-94, 2014 Jun 17.
Artigo
em Inglês
| MEDLINE | ID: mdl-24889605
9.
Ligase-4 Deficiency Causes Distinctive Immune Abnormalities in Asymptomatic Individuals.
J Clin Immunol
; 36(4): 341-53, 2016 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-27063650
10.
Functional analysis of naturally occurring DCLRE1C mutations and correlation with the clinical phenotype of ARTEMIS deficiency.
J Allergy Clin Immunol
; 136(1): 140-150.e7, 2015 Jul.
Artigo
em Inglês
| MEDLINE | ID: mdl-25917813
11.
Severe eczema and Hyper-IgE in Loeys-Dietz-syndrome - contribution to new findings of immune dysregulation in connective tissue disorders.
Clin Immunol
; 150(1): 43-50, 2014 Jan.
Artigo
em Inglês
| MEDLINE | ID: mdl-24333532
12.
A novel mutation in the POLE2 gene causing combined immunodeficiency.
J Allergy Clin Immunol
; 137(2): 635-638.e1, 2016 Feb.
Artigo
em Inglês
| MEDLINE | ID: mdl-26365386
13.
Clinical and immunological manifestations of patients with atypical severe combined immunodeficiency.
Clin Immunol
; 141(1): 73-82, 2011 Oct.
Artigo
em Inglês
| MEDLINE | ID: mdl-21664875
14.
Natural Killer Cells Generated From Human Induced Pluripotent Stem Cells Mature to CD56brightCD16+NKp80+/-In-Vitro and Express KIR2DL2/DL3 and KIR3DL1.
Front Immunol
; 12: 640672, 2021.
Artigo
em Inglês
| MEDLINE | ID: mdl-34017328
15.
Differential DNA Damage Response of Peripheral Blood Lymphocyte Populations.
Front Immunol
; 12: 739675, 2021.
Artigo
em Inglês
| MEDLINE | ID: mdl-34594342
16.
Delayed-onset adenosine deaminase deficiency: strategies for an early diagnosis.
J Allergy Clin Immunol
; 130(4): 991-4, 2012 Oct.
Artigo
em Inglês
| MEDLINE | ID: mdl-22578972
17.
Biallelic mutations in DNA ligase 1 underlie a spectrum of immune deficiencies.
J Clin Invest
; 128(12): 5489-5504, 2018 12 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-30395541
18.
EXTL3 mutations cause skeletal dysplasia, immune deficiency, and developmental delay.
J Exp Med
; 214(3): 623-637, 2017 03 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-28148688
19.
The antimicrobial peptide cathelicidin interacts with airway mucus.
Peptides
; 27(12): 3100-6, 2006 Dec.
Artigo
em Inglês
| MEDLINE | ID: mdl-16963160
20.
Reticular dysgenesis-associated AK2 protects hematopoietic stem and progenitor cell development from oxidative stress.
J Exp Med
; 212(8): 1185-202, 2015 Jul 27.
Artigo
em Inglês
| MEDLINE | ID: mdl-26150473