Detalhe da pesquisa
1.
Severe combined immunodeficiency (SCID) presenting in childhood, with agammaglobulinemia, associated with novel compound heterozygous mutations in DCLRE1C.
Clin Immunol
; 200: 16-18, 2019 03.
Artigo
Inglês
| MEDLINE | ID: mdl-30630113
2.
Strong expression of p53 protein in bone marrow samples after hematopoietic stem cell transplantation indicates risk of relapse in pediatric acute lymphoblastic leukemia patients.
Pediatr Transplant
; 23(4): e13408, 2019 06.
Artigo
Inglês
| MEDLINE | ID: mdl-30955249
3.
Origins of STIL-TAL1 fusion genes in children who later developed paediatric T-cell acute lymphoblastic leukaemia: An investigation of neonatal blood spots.
Pediatr Blood Cancer
; 65(11): e27310, 2018 11.
Artigo
Inglês
| MEDLINE | ID: mdl-29968961
4.
Late presenting atypical severe combined immunodeficiency (SCID) associated with a novel missense mutation in DCLRE1C.
Pediatr Allergy Immunol
; 29(1): 108-111, 2018 02.
Artigo
Inglês
| MEDLINE | ID: mdl-28981982
5.
Case report: IKZF1-related early-onset CID is expected to be missed in TREC-based SCID screening but can be identified by determination of KREC levels.
Front Immunol
; 14: 1257581, 2023.
Artigo
Inglês
| MEDLINE | ID: mdl-37771582
6.
Clinical presentation of Griscelli syndrome type 2 and spectrum of RAB27A mutations.
Pediatr Blood Cancer
; 54(4): 563-72, 2010 Apr.
Artigo
Inglês
| MEDLINE | ID: mdl-19953648
7.
A novel disorder involving dyshematopoiesis, inflammation, and HLH due to aberrant CDC42 function.
J Exp Med
; 216(12): 2778-2799, 2019 12 02.
Artigo
Inglês
| MEDLINE | ID: mdl-31601675
8.
Characterization of PRF1, STX11 and UNC13D genotype-phenotype correlations in familial hemophagocytic lymphohistiocytosis.
Br J Haematol
; 143(1): 75-83, 2008 Oct.
Artigo
Inglês
| MEDLINE | ID: mdl-18710388
9.
Sequence analysis of the SRGN, AP3B1, ARF6, and SH2D1A genes in familial hemophagocytic lymphohistiocytosis.
Pediatr Blood Cancer
; 50(5): 1067-9, 2008 May.
Artigo
Inglês
| MEDLINE | ID: mdl-18000860
10.
Low plasma levels of the protein pro-LL-37 as an early indication of severe disease in patients with chronic neutropenia.
Br J Haematol
; 137(2): 166-9, 2007 Apr.
Artigo
Inglês
| MEDLINE | ID: mdl-17391497
11.
Kostmann syndrome or infantile genetic agranulocytosis, part two: Understanding the underlying genetic defects in severe congenital neutropenia.
Acta Paediatr
; 96(6): 813-9, 2007 Jun.
Artigo
Inglês
| MEDLINE | ID: mdl-17537008