Found: 39
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Misdiagnosis as asphyxiating thoracic dystrophy and CMV-associated haemophagocytic lymphohistiocytosis in Shwachman-Diamond syndrome.
- Published in:
- European Journal of Pediatrics, 2013, v. 172, n. 5, p. 613, doi. 10.1007/s00431-012-1908-0
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- Publication type:
- Article
Onset of autoimmune lymphoproliferative syndrome (ALPS) in humans as a consequence of genetic defect accumulation.
- Published in:
- 2011
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- Publication type:
- journal article
Longevity of the humoral and cellular responses after SARS-CoV-2 booster vaccinations in immunocompromised patients.
- Published in:
- European Journal of Clinical Microbiology & Infectious Diseases, 2024, v. 43, n. 1, p. 177, doi. 10.1007/s10096-023-04701-x
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- Publication type:
- Article
The Euroflow PID Orientation Tube in the diagnostic workup of primary immunodeficiency: Daily practice performance in a tertiary university hospital.
- Published in:
- Frontiers in Immunology, 2022, v. 13, p. 1, doi. 10.3389/fimmu.2022.937738
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- Publication type:
- Article
Evaluation of Humoral and Cellular Responses in SARS-CoV-2 mRNA Vaccinated Immunocompromised Patients.
- Published in:
- Frontiers in Immunology, 2022, v. 13, p. 1, doi. 10.3389/fimmu.2022.858399
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- Publication type:
- Article
Multisystem inflammatory syndrome in children related to COVID-19: a systematic review.
- Published in:
- European Journal of Pediatrics, 2021, v. 180, n. 7, p. 2019, doi. 10.1007/s00431-021-03993-5
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- Publication type:
- Article
Exercise performance and quality of life in children with cystic fibrosis and mildly impaired lung function: relation with antibiotic treatments and hospitalization.
- Published in:
- 2017
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- Publication type:
- journal article
Colistin and neurotoxicity: recommendations for optimal use in cystic fibrosis patients.
- Published in:
- International Journal of Clinical Pharmacy, 2015, v. 37, n. 4, p. 555, doi. 10.1007/s11096-015-0077-4
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- Publication type:
- Article
GATA2 deficiency and haematopoietic stem cell transplantation: challenges for the clinical practitioner.
- Published in:
- British Journal of Haematology, 2020, v. 188, n. 5, p. 768, doi. 10.1111/bjh.16247
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- Publication type:
- Article
Milk protein and Oil-Red-O staining of alveolar macrophages in chronic respiratory disease of infancy.
- Published in:
- Pediatric Pulmonology, 2010, v. 45, n. 12, p. 1213, doi. 10.1002/ppul.21310
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- Publication type:
- Article
Genes at the Crossroad of Primary Immunodeficiencies and Cancer.
- Published in:
- Frontiers in Immunology, 2018, p. 1, doi. 10.3389/fimmu.2018.02544
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- Publication type:
- Article
A CARD9 Founder Mutation Disrupts NF-κB Signaling by Inhibiting BCL10 and MALT1 Recruitment and Signalosome Formation.
- Published in:
- Frontiers in Immunology, 2018, p. 1, doi. 10.3389/fimmu.2018.02366
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- Publication type:
- Article
When One Rare Disease Hides Another: Kartagener Syndrome Masking FMF.
- Published in:
- Clinical Pediatrics, 2018, v. 57, n. 8, p. 981, doi. 10.1177/0009922817733705
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- Publication type:
- Article
EuroFlow Standardized Approach to Diagnostic Immunopheneotyping of Severe PID in Newborns and Young Children.
- Published in:
- Frontiers in Immunology, 2020, p. 1, doi. 10.3389/fimmu.2020.00371
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- Publication type:
- Article
A Computational Pipeline for the Diagnosis of CVID Patients.
- Published in:
- Frontiers in Immunology, 2019, p. 1, doi. 10.3389/fimmu.2019.02009
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- Publication type:
- Article
Immune Monitoring in Melanoma and Urothelial Cancer Patients Treated with Anti-PD-1 Immunotherapy and SBRT Discloses Tumor Specific Immune Signatures.
- Published in:
- Cancers, 2021, v. 13, n. 11, p. 2630, doi. 10.3390/cancers13112630
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- Publication type:
- Article
Spleen function is reduced in individuals with NR5A1 variants with or without a difference of sex development: a cross-sectional study.
- Published in:
- European Journal of Endocrinology, 2024, v. 190, n. 1, p. 34, doi. 10.1093/ejendo/lvad174
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- Publication type:
- Article
COVID-19 vaccination in patients with primary immunodeficiencies: an international survey on patient vaccine hesitancy and self-reported adverse events.
- Published in:
- Frontiers in Immunology, 2023, p. 1, doi. 10.3389/fimmu.2023.1166198
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- Publication type:
- Article
Editorial: The role of transcription factors in inborn errors of immunity.
- Published in:
- Frontiers in Immunology, 2023, v. 14, p. 01, doi. 10.3389/fimmu.2023.1189312
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- Publication type:
- Article
Acute Perimyocarditis in a Case of Multisystem Inflammatory Syndrome in Adults.
- Published in:
- 2022
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- Publication type:
- Case Study
Shortcutting the diagnostic odyssey: the multidisciplinary Program for Undiagnosed Rare Diseases in adults (UD-PrOZA).
- Published in:
- 2022
- By:
- Publication type:
- journal article
Familial hemophagocytic lymphohistiocytosis type 3 presenting as neonatal cholestasis and splenomegaly.
- Published in:
- Pediatric Allergy & Immunology, 2022, v. 33, n. 4, p. 1, doi. 10.1111/pai.13774
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- Publication type:
- Article
A Novel Non-Coding Variant in DCLRE1C Results in Deregulated Splicing and Induces SCID Through the Generation of a Truncated ARTEMIS Protein That Fails to Support V(D)J Recombination and DNA Damage Repair.
- Published in:
- Frontiers in Immunology, 2021, v. 12, p. 1, doi. 10.3389/fimmu.2021.674226
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- Publication type:
- Article
Managing Granulomatous–Lymphocytic Interstitial Lung Disease in Common Variable Immunodeficiency Disorders: e-GLILDnet International Clinicians Survey.
- Published in:
- Frontiers in Immunology, 2020, v. 11, p. N.PAG, doi. 10.3389/fimmu.2020.606333
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- Publication type:
- Article
Case Report: Convalescent Plasma, a Targeted Therapy for Patients with CVID and Severe COVID-19.
- Published in:
- Frontiers in Immunology, 2020, v. 11, p. N.PAG, doi. 10.3389/fimmu.2020.596761
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- Publication type:
- Article
Improved Standardization of Flow Cytometry Diagnostic Screening of Primary Immunodeficiency by Software-Based Automated Gating.
- Published in:
- Frontiers in Immunology, 2020, v. 11, p. N.PAG, doi. 10.3389/fimmu.2020.584646
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- Publication type:
- Article
Missing heritability in Bloom syndrome: First report of a deep intronic variant leading to pseudo‐exon activation in the BLM gene.
- Published in:
- Clinical Genetics, 2021, v. 99, n. 2, p. 292, doi. 10.1111/cge.13859
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- Publication type:
- Article
A Novel Heterozygous Variant in AICDA Impairs Ig Class Switching and Somatic Hypermutation in Human B Cells and is Associated with Autosomal Dominant HIGM2 Syndrome.
- Published in:
- Journal of Clinical Immunology, 2024, v. 44, n. 3, p. 1, doi. 10.1007/s10875-024-01665-1
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- Publication type:
- Article
Harnessing Type I IFN Immunity Against SARS-CoV-2 with Early Administration of IFN-β.
- Published in:
- 2021
- By:
- Publication type:
- Editorial
Erratum to: Chronic and Invasive Fungal Infections in a Family with CARD9 Deficiency.
- Published in:
- 2016
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- Publication type:
- Erratum
Chronic and Invasive Fungal Infections in a Family with CARD9 Deficiency.
- Published in:
- Journal of Clinical Immunology, 2016, v. 36, n. 3, p. 204, doi. 10.1007/s10875-016-0255-8
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- Publication type:
- Article
Complete Factor I Deficiency Due to Dysfunctional Factor I with Recurrent Aseptic Meningo-Encephalitis.
- Published in:
- Journal of Clinical Immunology, 2013, v. 33, n. 8, p. 1293, doi. 10.1007/s10875-013-9944-8
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- Publication type:
- Article
Factors Influencing Long Term Persistence of Sinus Rhythm After a First Electrical Cardioversion for Atrial Fibrillation.
- Published in:
- Pacing & Clinical Electrophysiology, 1998, v. 21, n. 1, p. 284, doi. 10.1111/j.1540-8159.1998.tb01105.x
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- Publication type:
- Article
Mental Health Outcomes Among Parents of Children With a Chronic Disease During the COVID-19 Pandemic: The Role of Parental Burn-Out.
- Published in:
- 2022
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- Publication type:
- Journal Article
Ikaros family zinc finger 1 regulates dendritic cell development and function in humans.
- Published in:
- Nature Communications, 2018, v. 9, n. 1, p. 1, doi. 10.1038/s41467-018-02977-8
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- Publication type:
- Article
Persistent rotavirus diarrhea post-transplant in a novel JAK3- SCID patient after vaccination.
- Published in:
- Pediatric Allergy & Immunology, 2016, v. 27, n. 1, p. 93, doi. 10.1111/pai.12455
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- Publication type:
- Article
Development and validation of an LC tandem MS assay for the quantification of β-lactam antibiotics in the sputum of cystic fibrosis patients.
- Published in:
- 2018
- By:
- Publication type:
- journal article
Combined deficient response to polysaccharide-based and protein-based vaccines predicts a severe clinical phenotype.
- Published in:
- Clinical Chemistry & Laboratory Medicine, 2024, v. 62, n. 1, p. 138, doi. 10.1515/cclm-2023-0626
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- Publication type:
- Article
Comparison of culture and qPCR for the detection of Pseudomonas aeruginosa in not chronically infected cystic fibrosis patients.
- Published in:
- BMC Microbiology, 2010, v. 10, p. 245, doi. 10.1186/1471-2180-10-245
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- Publication type:
- Article