Detalhe da pesquisa
1.
Genetic Analysis of a Cohort of 275 Patients with Hyper-IgE Syndromes and/or Chronic Mucocutaneous Candidiasis.
J Clin Immunol
; 41(8): 1804-1838, 2021 11.
Artigo
em Inglês
| MEDLINE | ID: mdl-34390440
2.
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
3.
ADA Deficiency: Evaluation of the Clinical and Laboratory Features and the Outcome.
J Clin Immunol
; 38(4): 484-493, 2018 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-29744787
4.
B lymphocyte subsets and outcomes in patients with an initial diagnosis of transient hypogammaglobulinemia of infancy.
Scand J Immunol
; 88(4): e12709, 2018 Oct.
Artigo
em Inglês
| MEDLINE | ID: mdl-30152873
5.
A novel mutation in TAP1 gene leading to MHC class I deficiency: Report of two cases and review of the literature.
Clin Immunol
; 178: 74-78, 2017 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-28161407
6.
Hematopoietic stem cell transplantation in children with Griscelli syndrome: A single-center experience.
Pediatr Transplant
; 21(7)2017 Nov.
Artigo
em Inglês
| MEDLINE | ID: mdl-28836324
7.
Progressive neurodegenerative syndrome in a patient with X-linked agammaglobulinemia receiving intravenous immunoglobulin therapy.
Cogn Behav Neurol
; 27(3): 155-9, 2014 Sep.
Artigo
em Inglês
| MEDLINE | ID: mdl-25237746
8.
Two SCID cases with Cernunnos-XLF deficiency successfully treated by hematopoietic stem cell transplantation.
Pediatr Transplant
; 16(5): E167-71, 2012 Aug.
Artigo
em Inglês
| MEDLINE | ID: mdl-21535335
9.
Griscelli syndrome types 1 and 3: analysis of four new cases and long-term evaluation of previously diagnosed patients.
Eur J Pediatr
; 171(10): 1527-31, 2012 Oct.
Artigo
em Inglês
| MEDLINE | ID: mdl-22711375
10.
Hereditary C1q deficiency: a new family with C1qA deficiency.
Turk J Pediatr
; 52(2): 184-6, 2010.
Artigo
em Inglês
| MEDLINE | ID: mdl-20560256
11.
The Efficacy and Evidence-Based Use of Biologics in Children and Adolescents: Using Monoclonal Antibodies and Fusion Proteins as Treatments.
Dtsch Arztebl Int
; 116(42): 703-710, 2019 10 18.
Artigo
em Inglês
| MEDLINE | ID: mdl-31711560
12.
Hematopoietic stem cell transplantation in a CD3 gamma-deficient infant with inflammatory bowel disease.
Pediatr Transplant
; 12(8): 910-3, 2008 Dec.
Artigo
em Inglês
| MEDLINE | ID: mdl-18482219
13.
Atypical combined immunodeficiency due to Artemis defect: a case presenting as hyperimmunoglobulin M syndrome and with LGLL.
Mol Immunol
; 56(4): 354-7, 2013 Dec.
Artigo
em Inglês
| MEDLINE | ID: mdl-23911390
14.
Acquired factor VIII deficiency associated with a novel primary immunodeficiency suggestive of autosomal recessive hyper IgE syndrome.
J Pediatr Hematol Oncol
; 29(5): 327-9, 2007 May.
Artigo
em Inglês
| MEDLINE | ID: mdl-17483712