Detalhe da pesquisa
1.
Long-term follow up of families with pathogenic NFKB1 variants reveals incomplete penetrance and frequent inflammatory sequelae.
Clin Immunol
; 246: 109181, 2023 01.
Artigo
Inglês
| MEDLINE | ID: mdl-36356849
2.
Inflammation and Neutrophil Oxidative Burst in a Family with NFKB1 p.R157X LOF and Sterile Necrotizing Fasciitis.
J Clin Immunol
; 43(5): 1007-1018, 2023 07.
Artigo
Inglês
| MEDLINE | ID: mdl-36892687
3.
RhoG deficiency abrogates cytotoxicity of human lymphocytes and causes hemophagocytic lymphohistiocytosis.
Blood
; 137(15): 2033-2045, 2021 04 15.
Artigo
Inglês
| MEDLINE | ID: mdl-33513601
4.
Loss of DIAPH1 causes SCBMS, combined immunodeficiency, and mitochondrial dysfunction.
J Allergy Clin Immunol
; 148(2): 599-611, 2021 08.
Artigo
Inglês
| MEDLINE | ID: mdl-33662367
5.
Hematopoietic Cell Transplantation Cures Adenosine Deaminase 2 Deficiency: Report on 30 Patients.
J Clin Immunol
; 41(7): 1633-1647, 2021 10.
Artigo
Inglês
| MEDLINE | ID: mdl-34324127
6.
A Family With A20 Haploinsufficiency Presenting With Novel Clinical Manifestations and Challenges for Treatment.
J Clin Rheumatol
; 27(8): e583-e587, 2021 Dec 01.
Artigo
Inglês
| MEDLINE | ID: mdl-31977656
7.
Heterozygous TLR3 Mutation in Patients with Hantavirus Encephalitis.
J Clin Immunol
; 40(8): 1156-1162, 2020 11.
Artigo
Inglês
| MEDLINE | ID: mdl-32936395
8.
Novel Hemizygous IL2RG p.(Pro58Ser) Mutation Impairs IL-2 Receptor Complex Expression on Lymphocytes Causing X-Linked Combined Immunodeficiency.
J Clin Immunol
; 40(3): 503-514, 2020 04.
Artigo
Inglês
| MEDLINE | ID: mdl-32072341
9.
Somatic mutations and T-cell clonality in patients with immunodeficiency.
Haematologica
; 105(12): 2757-2768, 2020 12 01.
Artigo
Inglês
| MEDLINE | ID: mdl-33256375
10.
Recessive MYH3 variants cause "Contractures, pterygia, and variable skeletal fusions syndrome 1B" mimicking Escobar variant multiple pterygium syndrome.
Am J Med Genet A
; 182(11): 2605-2610, 2020 11.
Artigo
Inglês
| MEDLINE | ID: mdl-32902138
11.
Hematopoietic stem cell transplantation rescues the hematological, immunological, and vascular phenotype in DADA2.
Blood
; 130(24): 2682-2688, 2017 12 14.
Artigo
Inglês
| MEDLINE | ID: mdl-28974505
12.
SLC18A3 variants lead to fetal akinesia deformation sequence early in pregnancy.
Am J Med Genet A
; 179(7): 1362-1365, 2019 07.
Artigo
Inglês
| MEDLINE | ID: mdl-31059209
13.
A nearly fatal primary Epstein-Barr virus infection associated with low NK-cell counts in a patient receiving azathioprine: a case report and review of literature.
BMC Infect Dis
; 19(1): 404, 2019 May 10.
Artigo
Inglês
| MEDLINE | ID: mdl-31077135
14.
Clinical Course and Family History of Adult Patient with Novel MYSM1 Variant.
J Clin Immunol
; 44(1): 9, 2023 12 22.
Artigo
Inglês
| MEDLINE | ID: mdl-38129711
15.
Inherited DOCK2 Deficiency in Patients with Early-Onset Invasive Infections.
N Engl J Med
; 372(25): 2409-22, 2015 Jun 18.
Artigo
Inglês
| MEDLINE | ID: mdl-26083206
16.
Damaging heterozygous mutations in NFKB1 lead to diverse immunologic phenotypes.
J Allergy Clin Immunol
; 140(3): 782-796, 2017 Sep.
Artigo
Inglês
| MEDLINE | ID: mdl-28115215
17.
Correction to: Hematopoietic Cell Transplantation Cures Adenosine Deaminase 2 Deficiency: Report on 30 Patients.
J Clin Immunol
; 42(7): 1580-1581, 2022 Oct.
Artigo
Inglês
| MEDLINE | ID: mdl-35499644
18.
Autoimmunity, hypogammaglobulinemia, lymphoproliferation, and mycobacterial disease in patients with activating mutations in STAT3.
Blood
; 125(4): 639-48, 2015 Jan 22.
Artigo
Inglês
| MEDLINE | ID: mdl-25349174
19.
Genetic risk and a primary role for cell-mediated immune mechanisms in multiple sclerosis.
Nature
; 476(7359): 214-9, 2011 Aug 10.
Artigo
Inglês
| MEDLINE | ID: mdl-21833088
20.
Who would benefit from exome sequencing?
Duodecim
; 133(5): 481-8, 2017.
Artigo
Inglês
| MEDLINE | ID: mdl-29205997