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1.
Wiskott-Aldrich Syndrome: A study on 577 patients defining the genotype as a predictive biomarker for disease severity.
Blood
; 2024 Apr 05.
Artículo
en Inglés
| MEDLINE | ID: mdl-38579284
2.
Antibiotic prescriptions to children with periodic fever, aphthous stomatitis, pharyngitis and cervical adenitis.
Acta Paediatr
; 2024 May 15.
Artículo
en Inglés
| MEDLINE | ID: mdl-38747530
3.
Activated phosphoinositide 3-kinase δ syndrome: Update from the ESID Registry and comparison with other autoimmune-lymphoproliferative inborn errors of immunity.
J Allergy Clin Immunol
; 152(4): 984-996.e10, 2023 10.
Artículo
en Inglés
| MEDLINE | ID: mdl-37390899
4.
Three Adult Cases of STAT1 Gain-of-Function with Chronic Mucocutaneous Candidiasis Treated with JAK Inhibitors.
J Clin Immunol
; 43(1): 136-150, 2023 01.
Artículo
en Inglés
| MEDLINE | ID: mdl-36050429
5.
Inflammatory Biomarkers Can Differentiate Acute Lymphoblastic Leukemia with Arthropathy from Juvenile Idiopathic Arthritis Better Than Standard Blood Tests.
J Pediatr
; 258: 113406, 2023 07.
Artículo
en Inglés
| MEDLINE | ID: mdl-37023943
6.
Hematopoietic cell transplantation for telomere biology diseases: A retrospective single-center cohort study.
Eur J Haematol
; 111(3): 423-431, 2023 Sep.
Artículo
en Inglés
| MEDLINE | ID: mdl-37259830
7.
Hematopoietic cell transplantation in severe combined immunodeficiency: The SCETIDE 2006-2014 European cohort.
J Allergy Clin Immunol
; 149(5): 1744-1754.e8, 2022 05.
Artículo
en Inglés
| MEDLINE | ID: mdl-34718043
8.
Rubella vaccine-induced granulomas are a novel phenotype with incomplete penetrance of genetic defects in cytotoxicity.
J Allergy Clin Immunol
; 149(1): 388-399.e4, 2022 01.
Artículo
en Inglés
| MEDLINE | ID: mdl-34033843
9.
Long-Term Follow-Up of Newborns with 22q11 Deletion Syndrome and Low TRECs.
J Clin Immunol
; 42(3): 618-633, 2022 04.
Artículo
en Inglés
| MEDLINE | ID: mdl-35080750
10.
Paediatric Acute-onset Neuropsychiatric Syndrome (PANS) and intravenous immunoglobulin (IVIG): comprehensive open-label trial in ten children.
BMC Psychiatry
; 22(1): 535, 2022 08 06.
Artículo
en Inglés
| MEDLINE | ID: mdl-35933358
11.
Paediatric Acute onset Neuropsychiatric Syndrome: Exploratory study finds no evidence of HLA class II association but high rate of autoimmunity in first-degree relatives.
Acta Paediatr
; 111(4): 820-824, 2022 Apr.
Artículo
en Inglés
| MEDLINE | ID: mdl-33566388
12.
Population-based study of multisystem inflammatory syndrome associated with COVID-19 found that 36% of children had persistent symptoms.
Acta Paediatr
; 111(2): 354-362, 2022 Feb.
Artículo
en Inglés
| MEDLINE | ID: mdl-34806789
13.
Uveitis in Juvenile Idiopathic Arthritis: 18-Year Outcome in the Population-based Nordic Cohort Study.
Ophthalmology
; 128(4): 598-608, 2021 04.
Artículo
en Inglés
| MEDLINE | ID: mdl-32866542
14.
Outcomes after Haploidentical Stem Cell Transplantation with Post-Transplantation Cyclophosphamide in Patients with Primary Immunodeficiency Diseases.
Biol Blood Marrow Transplant
; 26(10): 1923-1929, 2020 10.
Artículo
en Inglés
| MEDLINE | ID: mdl-32653621
15.
The challenge of long-term follow-up of survivors of childhood acute leukemia after hematopoietic stem cell transplantation in resource-limited countries: A single-center report from Brazil.
Pediatr Transplant
; 24(4): e13691, 2020 06.
Artículo
en Inglés
| MEDLINE | ID: mdl-32246550
16.
Hematopoietic stem cell transplantation for CD40 ligand deficiency: Results from an EBMT/ESID-IEWP-SCETIDE-PIDTC study.
J Allergy Clin Immunol
; 143(6): 2238-2253, 2019 06.
Artículo
en Inglés
| MEDLINE | ID: mdl-30660643
17.
An overview of how on-call consultant paediatricians can recognise and manage severe primary immunodeficiencies.
Acta Paediatr
; 108(12): 2175-2185, 2019 12.
Artículo
en Inglés
| MEDLINE | ID: mdl-31278775
18.
Fifteen-minute consultation: Recognising primary immune deficiencies in children.
Arch Dis Child Educ Pract Ed
; 104(5): 235-243, 2019 10.
Artículo
en Inglés
| MEDLINE | ID: mdl-30733240
19.
Transplantation of Hematopoietic Stem Cells for Primary Immunodeficiencies in Brazil: Challenges in Treating Rare Diseases in Developing Countries.
J Clin Immunol
; 38(8): 917-926, 2018 11.
Artículo
en Inglés
| MEDLINE | ID: mdl-30470982
20.
Eleven percent intact PGM3 in a severely immunodeficient patient with a novel splice-site mutation, a case report.
BMC Pediatr
; 18(1): 285, 2018 08 29.
Artículo
en Inglés
| MEDLINE | ID: mdl-30157810