Detalhe da pesquisa
1.
A Novel TRAF3IP2 Mutation Causing Chronic Mucocutaneous Candidiasis.
J Clin Immunol
; 41(6): 1376-1379, 2021 08.
Artigo
em Inglês
| MEDLINE | ID: mdl-33825088
2.
Haploidentical α/ß T-cell and B-cell depleted stem cell transplantation in severe mevalonate kinase deficiency.
Rheumatology (Oxford)
; 60(10): 4850-4854, 2021 10 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-33410495
3.
Characterization of the clinical and immunologic phenotype and management of 157 individuals with 56 distinct heterozygous NFKB1 mutations.
J Allergy Clin Immunol
; 146(4): 901-911, 2020 10.
Artigo
em Inglês
| MEDLINE | ID: mdl-32278790
4.
Fatal Meningitis in Patient with X-Linked Chronic Granulomatous Disease Caused by Virulent Granulibacter bethesdensis.
Emerg Infect Dis
; 25(5): 976-979, 2019 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-31002074
5.
Methylotroph Infections and Chronic Granulomatous Disease.
Emerg Infect Dis
; 22(3): 404-9, 2016 Mar.
Artigo
em Inglês
| MEDLINE | ID: mdl-26886412
6.
Corrigendum to: Haploidentical α/ß T-cell and B-cell depleted stem cell transplantation in severe mevalonate kinase deficiency.
Rheumatology (Oxford)
; 60(7): 3484, 2021 Jul 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-33704408
7.
Precision medicine: The use of tailored therapy in primary immunodeficiencies.
Front Immunol
; 13: 1029560, 2022.
Artigo
em Inglês
| MEDLINE | ID: mdl-36569887
8.
Recurrent pyogenic infections caused by a novel Gln1420* mutation in the C3 gene.
Front Pediatr
; 10: 1017195, 2022.
Artigo
em Inglês
| MEDLINE | ID: mdl-36299691
9.
Case Report: Wide Spectrum of Manifestations of Ligase IV Deficiency: Report of 3 Cases.
Front Immunol
; 13: 869728, 2022.
Artigo
em Inglês
| MEDLINE | ID: mdl-35592332
10.
Case Report: Primary Immunodeficiencies, Massive EBV+ T-Cell Lympoproliferation Leading to the Diagnosis of ICF2 Syndrome.
Front Immunol
; 12: 654167, 2021.
Artigo
em Inglês
| MEDLINE | ID: mdl-33995370
11.
Variants in STXBP3 are Associated with Very Early Onset Inflammatory Bowel Disease, Bilateral Sensorineural Hearing Loss and Immune Dysregulation.
J Crohns Colitis
; 15(11): 1908-1919, 2021 Nov 08.
Artigo
em Inglês
| MEDLINE | ID: mdl-33891011
12.
Hemophagocytic lymphohistiocytosis secondary to Falciparum malaria in a 5 year-old boy.
Ann Hematol
; 94(1): 161-3, 2015 Jan.
Artigo
em Inglês
| MEDLINE | ID: mdl-24880248
13.
[H Factor Deficiency: A Case with an Atypical Presentation]. / Défice de Fator H: Um Caso com Apresentação Atípica.
Acta Med Port
; 32(2): 158-161, 2019 Feb 28.
Artigo
em Português
| MEDLINE | ID: mdl-30896397
14.
Invasive Meningococcal Disease Unraveling a Novel Mutation in the C5 Gene in a Portuguese Family.
Pediatr Infect Dis J
; 38(4): 416-418, 2019 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-30882736
15.
Fatal Central Nervous System Lymphocytic Vasculitis after Treatment for Burkitt Lymphoma in a Patient with a SH2D1A Mutation.
Pediatr Infect Dis J
; 38(2): e29-e31, 2019 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-30138256
16.
X-linked agammaglobulinemia (XLA):Phenotype, diagnosis, and therapeutic challenges around the world.
World Allergy Organ J
; 12(3): 100018, 2019.
Artigo
em Inglês
| MEDLINE | ID: mdl-30937141
17.
Missense mutation of TTC7A mimicking tricho-hepato-enteric (SD/THE) syndrome in a patient with very-early onset inflammatory bowel disease.
Eur J Med Genet
; 61(4): 185-188, 2018 Apr.
Artigo
em Inglês
| MEDLINE | ID: mdl-29174094
18.
Novel PLCG2 Mutation in a Patient With APLAID and Cutis Laxa.
Front Immunol
; 9: 2863, 2018.
Artigo
em Inglês
| MEDLINE | ID: mdl-30619256
19.
Monoclonal IgG kappa gammopathy previous to hematopoietic stem cell transplantation in an infant with severe combined immunodeficiency.
Clin Immunol
; 145(2): 133-5, 2012 Nov.
Artigo
em Inglês
| MEDLINE | ID: mdl-23022654
20.
Successful handling of autoimmunity in X-linked thrombocytopenia (XLT) using mycophenolate mofetil.
Pediatr Blood Cancer
; 59(5): 961, 2012 Nov.
Artigo
em Inglês
| MEDLINE | ID: mdl-22692965