Detalhe da pesquisa
1.
A variant in human AIOLOS impairs adaptive immunity by interfering with IKAROS.
Nat Immunol
; 22(7): 893-903, 2021 07.
Artigo
Inglês
| MEDLINE | ID: mdl-34155405
2.
Wiskott-Aldrich Syndrome: A study on 577 patients defining the genotype as a predictive biomarker for disease severity.
Blood
; 2024 Apr 05.
Artigo
Inglês
| MEDLINE | ID: mdl-38579284
3.
The kinase Btk negatively regulates the production of reactive oxygen species and stimulation-induced apoptosis in human neutrophils.
Nat Immunol
; 13(4): 369-78, 2012 Feb 26.
Artigo
Inglês
| MEDLINE | ID: mdl-22366891
4.
Atypical familial hemophagocytic lymphohistiocytosis type 3 in children: A report of cases and literature review.
Pediatr Allergy Immunol
; 35(5): e14136, 2024 May.
Artigo
Inglês
| MEDLINE | ID: mdl-38747707
5.
Intracranial residual lesions following early intensification in a patient with T-cell acute lymphoblastic leukemia: a case report.
BMC Pediatr
; 24(1): 304, 2024 May 04.
Artigo
Inglês
| MEDLINE | ID: mdl-38704558
6.
Severe RAS-Associated Lymphoproliferative Disease Case with Increasing αß Double-Negative T Cells with Atypical Features.
J Clin Immunol
; 43(8): 1992-1996, 2023 11.
Artigo
Inglês
| MEDLINE | ID: mdl-37644277
7.
Bone Marrow Failure and Immunodeficiency Associated with Human RAD50 Variants.
J Clin Immunol
; 43(8): 2136-2145, 2023 Nov.
Artigo
Inglês
| MEDLINE | ID: mdl-37794136
8.
Clinical and Genetic Characterization of Patients with Artemis Deficiency in Japan.
J Clin Immunol
; 43(3): 585-594, 2023 Apr.
Artigo
Inglês
| MEDLINE | ID: mdl-36385359
9.
Novel STAT1 Variants in Japanese Patients with Isolated Mendelian Susceptibility to Mycobacterial Diseases.
J Clin Immunol
; 43(2): 466-478, 2023 02.
Artigo
Inglês
| MEDLINE | ID: mdl-36336768
10.
An International Survey of Allogeneic Hematopoietic Cell Transplantation for X-Linked Agammaglobulinemia.
J Clin Immunol
; 43(8): 1827-1839, 2023 Nov.
Artigo
Inglês
| MEDLINE | ID: mdl-37454339
11.
Fatal COVID-19 Infection in Two Children with STAT1 Gain-of-Function.
J Clin Immunol
; 44(1): 20, 2023 12 22.
Artigo
Inglês
| MEDLINE | ID: mdl-38129739
12.
Hematologically important mutations: Leukocyte adhesion deficiency (second update).
Blood Cells Mol Dis
; 99: 102726, 2023 03.
Artigo
Inglês
| MEDLINE | ID: mdl-36696755
13.
Successful TCRαß/CD19-Depleted Hematopoietic Cell Transplantation for a Patient With Artemis Deficiency.
J Pediatr Hematol Oncol
; 45(2): e285-e289, 2023 03 01.
Artigo
Inglês
| MEDLINE | ID: mdl-36757045
14.
Rare diseases presenting with hemophagocytic lymphohistiocytosis.
Pediatr Int
; 65(1): e15516, 2023.
Artigo
Inglês
| MEDLINE | ID: mdl-36843347
15.
[Diagnosis and treatment of adult patients with inborn errors of immunity].
Rinsho Ketsueki
; 64(8): 772-781, 2023.
Artigo
Japonês
| MEDLINE | ID: mdl-37673630
16.
[Hematopoietic cell transplantation for monogenic inflammatory bowel disease].
Rinsho Ketsueki
; 64(9): 1213-1221, 2023.
Artigo
Japonês
| MEDLINE | ID: mdl-37899202
17.
Early diagnosis of partial interferon-γ receptor 1 deficiency prevents the development of Bacille de Calmette et Guérin osteomyelitis.
Clin Immunol
; 235: 108933, 2022 02.
Artigo
Inglês
| MEDLINE | ID: mdl-35074548
18.
Recurrent tandem duplication of UNC13D in familial hemophagocytic lymphohistiocytosis type 3.
Clin Immunol
; 242: 109104, 2022 09.
Artigo
Inglês
| MEDLINE | ID: mdl-36041693
19.
Preemptive hematopoietic cell transplantation for asymptomatic patients with X-linked lymphoproliferative syndrome type 1.
Clin Immunol
; 237: 108993, 2022 04.
Artigo
Inglês
| MEDLINE | ID: mdl-35367395
20.
A Novel CEBPE Variant Causes Severe Infections and Profound Neutropenia.
J Clin Immunol
; 42(7): 1434-1450, 2022 10.
Artigo
Inglês
| MEDLINE | ID: mdl-35726044