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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.
Neurological phenotype of adenosine deaminase 2 deficient patients: a cohort study.
Eur J Neurol
; 31(1): e16043, 2024 01.
Artículo
en Inglés
| MEDLINE | ID: mdl-37584090
3.
Clinical Symptoms, Laboratory Parameters and Long-Term Follow-up in a National DADA2 Cohort.
J Clin Immunol
; 43(7): 1581-1596, 2023 10.
Artículo
en Inglés
| MEDLINE | ID: mdl-37277582
4.
Antibody deficiencies in children are associated with prematurity and a family history of infections.
Pediatr Res
; 94(6): 2047-2053, 2023 Dec.
Artículo
en Inglés
| MEDLINE | ID: mdl-37491587
5.
Internet-delivered cognitive behavioural therapy for chronic fatigue among adolescents with a chronic medical condition: a single case study.
Behav Cogn Psychother
; 51(3): 259-264, 2023 May.
Artículo
en Inglés
| MEDLINE | ID: mdl-36788703
6.
Severe Fatigue Is Common Among Pediatric Patients with Primary Immunodeficiency and Is Not Related to Disease Activity.
J Clin Immunol
; 41(6): 1198-1207, 2021 08.
Artículo
en Inglés
| MEDLINE | ID: mdl-33728554
7.
Chronically Activated T-cells Retain Their Inflammatory Properties in Common Variable Immunodeficiency.
J Clin Immunol
; 41(7): 1621-1632, 2021 10.
Artículo
en Inglés
| MEDLINE | ID: mdl-34247288
8.
Targeted Proteomics Reveals Inflammatory Pathways that Classify Immune Dysregulation in Common Variable Immunodeficiency.
J Clin Immunol
; 41(2): 362-373, 2021 02.
Artículo
en Inglés
| MEDLINE | ID: mdl-33190167
9.
Immunoglobulin Replacement Therapy Versus Antibiotic Prophylaxis as Treatment for Incomplete Primary Antibody Deficiency.
J Clin Immunol
; 41(2): 382-392, 2021 02.
Artículo
en Inglés
| MEDLINE | ID: mdl-33206257
10.
Parents' Perspectives and Societal Acceptance of Implementation of Newborn Screening for SCID in the Netherlands.
J Clin Immunol
; 41(1): 99-108, 2021 01.
Artículo
en Inglés
| MEDLINE | ID: mdl-33070266
11.
Long-term outcome of LRBA deficiency in 76 patients after various treatment modalities as evaluated by the immune deficiency and dysregulation activity (IDDA) score.
J Allergy Clin Immunol
; 145(5): 1452-1463, 2020 05.
Artículo
en Inglés
| MEDLINE | ID: mdl-31887391
12.
Cost and impact of early diagnosis in primary immunodeficiency disease: A literature review.
Clin Immunol
; 213: 108359, 2020 04.
Artículo
en Inglés
| MEDLINE | ID: mdl-32035178
13.
Diagnostic Yield of Next Generation Sequencing in Genetically Undiagnosed Patients with Primary Immunodeficiencies: a Systematic Review.
J Clin Immunol
; 39(6): 577-591, 2019 08.
Artículo
en Inglés
| MEDLINE | ID: mdl-31250335
14.
Proline-serine-threonine phosphatase interacting protein 1 (PSTPIP1) controls immune synapse stability in human T cells.
J Allergy Clin Immunol
; 142(6): 1947-1955, 2018 12.
Artículo
en Inglés
| MEDLINE | ID: mdl-29432774
15.
Ankyrin repeat and zinc-finger domain-containing 1 mutations are associated with infantile-onset inflammatory bowel disease.
J Biol Chem
; 292(19): 7904-7920, 2017 05 12.
Artículo
en Inglés
| MEDLINE | ID: mdl-28302725
16.
Abnormal Results of Newborn Screening for SCID After Azathioprine Exposure In Utero: Benefit of TPMT Genotyping in Both Mother and Child.
J Clin Immunol
; 42(1): 199-202, 2022 01.
Artículo
en Inglés
| MEDLINE | ID: mdl-34622388
17.
Phenotypic variability in patients with ADA2 deficiency due to identical homozygous R169Q mutations.
Rheumatology (Oxford)
; 55(5): 902-10, 2016 May.
Artículo
en Inglés
| MEDLINE | ID: mdl-26867732
18.
TREC Based Newborn Screening for Severe Combined Immunodeficiency Disease: A Systematic Review.
J Clin Immunol
; 35(4): 416-30, 2015 May.
Artículo
en Inglés
| MEDLINE | ID: mdl-25893636
19.
The syndrome of hemophagocytic lymphohistiocytosis in primary immunodeficiencies: implications for differential diagnosis and pathogenesis.
Haematologica
; 100(7): 978-88, 2015 Jul.
Artículo
en Inglés
| MEDLINE | ID: mdl-26022711
20.
Similar recombination-activating gene (RAG) mutations result in similar immunobiological effects but in different clinical phenotypes.
J Allergy Clin Immunol
; 133(4): 1124-33, 2014 Apr.
Artículo
en Inglés
| MEDLINE | ID: mdl-24418478