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.
Human RIPK1 deficiency causes combined immunodeficiency and inflammatory bowel diseases.
Proc Natl Acad Sci U S A
; 116(3): 970-975, 2019 01 15.
Artigo
em Inglês
| MEDLINE | ID: mdl-30591564
4.
Mutations of the gene FNIP1 associated with a syndromic autosomal recessive immunodeficiency with cardiomyopathy and pre-excitation syndrome.
Eur J Immunol
; 50(7): 1078-1080, 2020 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-32181500
5.
Bone marrow failure unresponsive to bone marrow transplant is caused by mutations in thrombopoietin.
Blood
; 130(7): 875-880, 2017 08 17.
Artigo
em Inglês
| MEDLINE | ID: mdl-28559357
6.
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
7.
Regulated expression of nuclear receptor RORγt confers distinct functional fates to NK cell receptor-expressing RORγt(+) innate lymphocytes.
Immunity
; 33(5): 736-51, 2010 Nov 24.
Artigo
em Inglês
| MEDLINE | ID: mdl-21093318
8.
Recent advances in understanding the pathogenesis and management of reticular dysgenesis.
Br J Haematol
; 180(5): 644-653, 2018 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-29270983
9.
DCLRE1C (ARTEMIS) mutations causing phenotypes ranging from atypical severe combined immunodeficiency to mere antibody deficiency.
Hum Mol Genet
; 24(25): 7361-72, 2015 Dec 20.
Artigo
em Inglês
| MEDLINE | ID: mdl-26476407
10.
Evaluation of RAG1 mutations in an adult with combined immunodeficiency and progressive multifocal leukoencephalopathy.
Clin Immunol
; 179: 1-7, 2017 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-28216420
11.
Omenn syndrome associated with a functional reversion due to a somatic second-site mutation in CARD11 deficiency.
Blood
; 126(14): 1658-69, 2015 Oct 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-26289640
12.
MCM3AP and POMP Mutations Cause a DNA-Repair and DNA-Damage-Signaling Defect in an Immunodeficient Child.
Hum Mutat
; 37(3): 257-68, 2016 Mar.
Artigo
em Inglês
| MEDLINE | ID: mdl-26615982
13.
Transplantation from a symptomatic carrier sister restores host defenses but does not prevent colitis in NEMO deficiency.
Clin Immunol
; 164: 52-6, 2016 Mar.
Artigo
em Inglês
| MEDLINE | ID: mdl-26812624
14.
Deficiency of innate and acquired immunity caused by an IKBKB mutation.
N Engl J Med
; 369(26): 2504-14, 2013 Dec 26.
Artigo
em Inglês
| MEDLINE | ID: mdl-24369075
15.
SCID patients with ARTEMIS vs RAG deficiencies following HCT: increased risk of late toxicity in ARTEMIS-deficient SCID.
Blood
; 123(2): 281-9, 2014 Jan 09.
Artigo
em Inglês
| MEDLINE | ID: mdl-24144642
16.
Late thymic deficiency after HLA-haploidentical hematopoietic stem cell transplantation for severe combined immunodeficiency.
J Allergy Clin Immunol
; 143(4): 1623-1626.e13, 2019 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-30529243
17.
A combined immunodeficiency with severe infections, inflammation, and allergy caused by ARPC1B deficiency.
J Allergy Clin Immunol
; 143(6): 2296-2299, 2019 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-30771411
18.
Dihydrofolate reductase deficiency due to a homozygous DHFR mutation causes megaloblastic anemia and cerebral folate deficiency leading to severe neurologic disease.
Am J Hum Genet
; 88(2): 226-31, 2011 Feb 11.
Artigo
em Inglês
| MEDLINE | ID: mdl-21310277
19.
A partial human LCK defect causes a T cell immunodeficiency with intestinal inflammation.
J Exp Med
; 221(1)2024 Jan 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-37962568
20.
A multimorphic mutation in IRF4 causes human autosomal dominant combined immunodeficiency.
Sci Immunol
; 8(79): eade7953, 2023 01 20.
Artigo
em Inglês
| MEDLINE | ID: mdl-36662884