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Deficiencia adenozín-deaminázy 2. typu (DADA2) -- prvé skúsenosti na Slovensku: kazuistiky.
- Published in:
- Internal Medicine / Vnitrni Lekarstvi, 2024, v. 70, n. 4, p. 246, doi. 10.36290/vnl.2024.048
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- Publication type:
- Article
Unusual and severe disease course in a child with ataxia-telangiectasia.
- Published in:
- Pediatric Allergy & Immunology, 2003, v. 14, n. 4, p. 330, doi. 10.1034/j.1399-3038.2003.00037.x
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- Publication type:
- Article
Case report: Myocarditis in congenital STAT1 gain-of function.
- Published in:
- Frontiers in Immunology, 2023, v. 14, p. 01, doi. 10.3389/fimmu.2023.1095595
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- Publication type:
- Article
Allogeneic Hematopoietic Cell Transplantation for Patients With Deficiency of Adenosine Deaminase 2 (DADA2): Approaches, Obstacles and Special Considerations.
- Published in:
- Frontiers in Immunology, 2022, v. 13, p. 1, doi. 10.3389/fimmu.2022.932385
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- Publication type:
- Article
Cytopenia in autosomal dominant polycystic kidney disease (ADPKD): merely an association or a disease-related feature with prognostic implications?
- Published in:
- Pediatric Nephrology, 2021, v. 36, n. 11, p. 3505, doi. 10.1007/s00467-021-04937-9
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- Publication type:
- Article
Phenotypic variability in patients with ADA2 deficiency due to identical homozygous R169Q mutations.
- Published in:
- Rheumatology, 2016, v. 55, n. 5, p. 902, doi. 10.1093/rheumatology/kev439
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- Publication type:
- Article
Liver transplantation for very severe hepatopulmonary syndrome due to vitamin A-induced chronic liver disease in a patient with Shwachman-Diamond syndrome.
- Published in:
- 2018
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- Publication type:
- case study
Medical algorithm: Diagnosis and management of antibody immunodeficiencies.
- Published in:
- Allergy, 2021, v. 76, n. 12, p. 3841, doi. 10.1111/all.14961
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- Publication type:
- Article
Selective Nasal Allergen Provocation Induces Substance P- Mediated Bronchial Hyperresponsiveness.
- Published in:
- American Journal of Respiratory Cell & Molecular Biology, 2011, v. 44, n. 4, p. 517, doi. 10.1165/rcmb.2009-0425OC
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- Publication type:
- Article
Charting a course for global progress in PIDs by 2030 — proceedings from the IPOPI global multi-stakeholders’ summit (September 2023).
- Published in:
- Frontiers in Immunology, 2024, p. 1, doi. 10.3389/fimmu.2024.1430678
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- Publication type:
- Article
Charting a course for global progress in PIDs by 2030 — proceedings from the IPOPI global multi-stakeholders’ summit (September 2023).
- Published in:
- Frontiers in Immunology, 2024, p. 1, doi. 10.3389/fimmu.2024.1430678
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- Publication type:
- Article
Diagnosis of IRAK-4-deficiency by flow cytometric measurement of IκB-α degradation.
- Published in:
- Clinical Chemistry & Laboratory Medicine, 2024, v. 62, n. 4, p. e102, doi. 10.1515/cclm-2023-0999
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- Publication type:
- 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
Exhaled nitric oxide corresponds with office evaluation of asthma control.
- Published in:
- Pediatric Pulmonology, 2003, v. 36, n. 4, p. 283, doi. 10.1002/ppul.10317
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- Publication type:
- Article
Exhaled Nitric Oxide: Offline Tidal Breathing Measurements Are Feasible in Children and Correlate with Online Single Breath Measurements.
- Published in:
- Pediatric Allergy, Immunology & Pulmonology, 2010, v. 23, n. 3, p. 201, doi. 10.1089/ped.2010.0037
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- Publication type:
- Article
ADA2 Deficiency Mimicking Acute Disseminated Encephalomyelitis.
- Published in:
- Journal of Clinical Immunology, 2023, v. 43, n. 3, p. 536, doi. 10.1007/s10875-022-01413-3
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- Publication type:
- Article
Aichivirus: an Emerging Pathogen in Patients with Primary and Secondary B-Cell Deficiency.
- Published in:
- Journal of Clinical Immunology, 2023, v. 43, n. 3, p. 532, doi. 10.1007/s10875-022-01410-6
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- Publication type:
- Article
The 2022 Update of IUIS Phenotypical Classification for Human Inborn Errors of Immunity.
- Published in:
- Journal of Clinical Immunology, 2022, v. 42, n. 7, p. 1508, doi. 10.1007/s10875-022-01352-z
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- Publication type:
- Article
Human Inborn Errors of Immunity: 2022 Update on the Classification from the International Union of Immunological Societies Expert Committee.
- Published in:
- Journal of Clinical Immunology, 2022, v. 42, n. 7, p. 1473, doi. 10.1007/s10875-022-01289-3
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- Publication type:
- Article
Two Novel Biallelic RASGRP1 Mutations Presenting with Immunodeficiency, Hodgkin's Lymphoma, and Autoimmunity.
- Published in:
- Journal of Clinical Immunology, 2022, v. 42, n. 6, p. 1160, doi. 10.1007/s10875-022-01281-x
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- Publication type:
- Article
A Novel Kindred with MyD88 Deficiency.
- Published in:
- 2022
- By:
- Publication type:
- Letter
Transient Increase of Pre-existing Anti-IFN-α2 Antibodies Induced by SARS-CoV-2 Infection.
- Published in:
- 2022
- By:
- Publication type:
- Letter
Pathogenic P554S Variant in TLR3 in a Patient with Severe Influenza Pneumonia.
- Published in:
- 2022
- By:
- Publication type:
- Letter
Exploration of Potential Immunodeficiency Unveils Hennekam Lymphangiectasia-Lymphedema Syndrome.
- Published in:
- 2021
- By:
- Publication type:
- Letter
Harnessing Type I IFN Immunity Against SARS-CoV-2 with Early Administration of IFN-β.
- Published in:
- 2021
- By:
- Publication type:
- Editorial
Hematopoietic Stem Cell Transplantation Cures Chronic Aichi Virus Infection in a Patient with X-linked Agammaglobulinemia.
- Published in:
- 2021
- By:
- Publication type:
- Letter
The "Editors" Take to RAG: Promise of CRISPR/Cas9/rAAV6-Based Gene Therapy for RAG2 Deficiency.
- Published in:
- 2021
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- Publication type:
- Editorial
The Ever-Increasing Array of Novel Inborn Errors of Immunity: an Interim Update by the IUIS Committee.
- Published in:
- Journal of Clinical Immunology, 2021, v. 41, n. 3, p. 666, doi. 10.1007/s10875-021-00980-1
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- Publication type:
- Article
Pathogenic TLR3 Variant in a Patient with Recurrent Herpes Simplex Virus 1–Triggered Erythema Multiforme.
- Published in:
- 2021
- By:
- Publication type:
- Letter
Clinical Spectrum of Ras-Associated Autoimmune Leukoproliferative Disorder (RALD).
- Published in:
- Journal of Clinical Immunology, 2021, v. 41, n. 1, p. 51, doi. 10.1007/s10875-020-00883-7
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- Publication type:
- Article
Systemic Inflammation and Myelofibrosis in a Patient with Takenouchi-Kosaki Syndrome due to CDC42 Tyr64Cys Mutation.
- Published in:
- 2020
- By:
- Publication type:
- Letter
Defining Polysaccharide Antibody Deficiency: Measurement of Anti-Pneumococcal Antibodies and Anti-Salmonella typhi Antibodies in a Cohort of Patients with Recurrent Infections.
- Published in:
- Journal of Clinical Immunology, 2020, v. 40, n. 1, p. 105, doi. 10.1007/s10875-019-00691-8
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- Publication type:
- Article
Hematopoietic Stem Cell Transplantation in CARD9 Deficiency: Knight in Shining Armor?
- Published in:
- 2019
- By:
- Publication type:
- Editorial
Auto-inflammation in a Patient with a Novel Homozygous OTULIN Mutation.
- Published in:
- 2019
- By:
- Publication type:
- Letter
Childhood Hodgkin Lymphoma: Think DADA2.
- Published in:
- Journal of Clinical Immunology, 2019, v. 39, n. 1, p. 26, doi. 10.1007/s10875-019-0590-7
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- Publication type:
- Article
Progressive Multifocal Leukoencephalopathy in Primary Immunodeficiencies.
- Published in:
- Journal of Clinical Immunology, 2019, v. 39, n. 1, p. 55, doi. 10.1007/s10875-018-0578-8
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- Publication type:
- Article
Correction to: Chronic Aichi Virus Infection in a Patient with X-Linked Agammaglobulinemia.
- Published in:
- Journal of Clinical Immunology, 2018, v. 38, n. 8, p. 938, doi. 10.1007/s10875-018-0570-3
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- Publication type:
- Article
Warts and DADA2: a Mere Coincidence?
- Published in:
- Journal of Clinical Immunology, 2018, v. 38, n. 8, p. 836, doi. 10.1007/s10875-018-0565-0
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- Publication type:
- Article
Chronic Aichi Virus Infection in a Patient with X-Linked Agammaglobulinemia.
- Published in:
- 2018
- By:
- Publication type:
- Letter to the Editor
Deficiency of Adenosine Deaminase 2 (DADA2): Updates on the Phenotype, Genetics, Pathogenesis, and Treatment.
- Published in:
- Journal of Clinical Immunology, 2018, v. 38, n. 5, p. 569, doi. 10.1007/s10875-018-0525-8
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- Publication type:
- Article
The International Alliance of Primary Immune Deficiency Societies.
- Published in:
- 2018
- By:
- Publication type:
- Editorial
Functional Evaluation of an IKBKG Variant Suspected to Cause Immunodeficiency Without Ectodermal Dysplasia.
- Published in:
- Journal of Clinical Immunology, 2017, v. 37, n. 8, p. 801, doi. 10.1007/s10875-017-0448-9
- By:
- Publication type:
- Article
Hematopoietic Stem Cell Transplantation in ADA2 Deficiency: Early Restoration of ADA2 Enzyme Activity and Disease Relapse upon Drop of Donor Chimerism.
- Published in:
- 2017
- By:
- Publication type:
- Letter
Thyroid Carcinoma in a Child with Activated Phosphoinositide 3-Kinase δ Syndrome: Somatic Effect of a Germline Mutation.
- Published in:
- 2017
- By:
- Publication type:
- Letter
AD Hyper-IgE Syndrome Due to a Novel Loss-of-Function Mutation in STAT3: a Diagnostic Pursuit Won by Clinical Acuity.
- Published in:
- 2017
- By:
- Publication type:
- Letter
PID in Disguise: Molecular Diagnosis of IRAK-4 Deficiency in an Adult Previously Misdiagnosed With Autosomal Dominant Hyper IgE Syndrome.
- Published in:
- Journal of Clinical Immunology, 2015, v. 35, n. 8, p. 739, doi. 10.1007/s10875-015-0205-x
- By:
- Publication type:
- Article
Viral infections in humans and mice with genetic deficiencies of the type I IFN response pathway.
- Published in:
- European Journal of Immunology, 2021, v. 51, n. 5, p. 1039, doi. 10.1002/eji.202048793
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- Publication type:
- Article
Sensitization to Inhaled Ryegrass Pollen by Collateral Priming in a Murine Model of Allergic Respiratory Disease.
- Published in:
- International Archives of Allergy & Immunology, 2010, v. 152, n. 3, p. 233, doi. 10.1159/000283031
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- Publication type:
- Article
Clinical efficacy of SARS‐CoV‐2 Omicron‐neutralizing antibodies in immunoglobulin preparations for the treatment of agammaglobulinemia in patients with primary antibody deficiency.
- Published in:
- Journal of Medical Virology, 2024, v. 96, n. 6, p. 1, doi. 10.1002/jmv.29738
- By:
- Publication type:
- Article
Olmsted syndrome: exploration of the immunological phenotype.
- Published in:
- Orphanet Journal of Rare Diseases, 2013, v. 8, n. 1, p. 1, doi. 10.1186/1750-1172-8-79
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- Publication type:
- Article