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                             41 gevonden resultaten
nr titel auteur tijdschrift jaar jaarg. afl. pagina('s) type
1 A Novel Biallelic LCK Variant Resulting in Profound T-Cell Immune Deficiency and Review of the Literature Lanz, Anna-Lisa

44 1 artikel
2 A Phase 1 Open-Label Study to Assess the Tolerability, Safety, and Immunogenicity of Hyaluronidase-Facilitated Subcutaneous Immunoglobulin 20% in Healthy Adults Nagy, Andras

44 1 artikel
3 BCL10 Deficiency Presenting as Severe Combined Immunodeficiency Escaping Newborn Screening Salou, Sarah

44 1 artikel
4 Chest Computed Tomography Characteristics of Critically Ill COVID-19 Patients with Auto-antibodies Against Type I Interferons Lafont Rapnouil, Baptiste

44 1 artikel
5 Clinical and Immunological Features, Genetic Variants, and Outcomes of Patients with CD40 Deficiency Banday, Aaqib Zaffar

44 1 artikel
6 Clinical Course and Family History of Adult Patient with Novel MYSM1 Variant Sakovich, Inga S.

44 1 artikel
7 Combined Immunodeficiency Caused by a Novel Nonsense Mutation in LCK Keller, Baerbel

44 1 artikel
8 Correction to: A Novel Biallelic LCK Variant Resulting in Profound T-Cell Immune Deficiency and Review of the Literature Lanz, Anna-Lisa

44 1 artikel
9 CVID-Associated Intestinal Disorders in the USIDNET Registry: An Analysis of Disease Manifestations, Functional Status, Comorbidities, and Treatment Franzblau, Lauren E.

44 1 artikel
10 CXCL9 as a Reliable Biomarker for Discriminating Anti–IFN-γ-Autoantibody–Associated Lymphadenopathy that Mimics Lymphoma Yuan, Chang-Tsu

44 1 artikel
11 Duplication of Exons 8–9 in NCF2 Leading to Incomplete Clinical Penetrance in Chronic Granulomatous Disease Venancio Hernández, Marco Antonio

44 1 artikel
12 Evaluation of Clinical and Immunological Alterations Associated with ICF Syndrome Bilgic Eltan, Sevgi

44 1 artikel
13 Fatal COVID-19 Infection in Two Children with STAT1 Gain-of-Function Staines-Boone, Aidé Tamara

44 1 artikel
14 Filaggrin-Associated Atopic Skin, Eye, Airways, and Gut Disease, Modifying the Presentation of X-Linked Reticular Pigmentary Disorder (XLPDR) Li, Margaret W. Y.

44 1 artikel
15 Four-Year-History of Recurrent Fever, Skin Lesions, and Liver Abscesses in a Patient with Common Variable Immune Deficiency due to Helicobacter cinaedi Infection Rotella, Karina

44 1 artikel
16 Human Autosomal Recessive DNA Polymerase Delta 3 Deficiency Presenting as Omenn Syndrome Riestra, Maria Rodrigo

44 1 artikel
17 IL4Rα and IL17A Blockade Rescue Autoinflammation in SOCS1 Haploinsufficiency Gruber, Conor

44 1 artikel
18 IL-4Rα Inhibition for Severe “Eosinophilic Gastroenteritis, Allergy, and Anaphylaxis” Syndrome due to a Gain-of-Function Variant in STAT6 Faguer, Stanislas

44 1 artikel
19 Impact of Exposure to Vaccination and Infection on Cellular and Antibody Response to SARS-CoV-2 in CVID Patients Through COVID-19 Pandemic Costanzo, Giulia Anna Maria Luigia

44 1 artikel
20 Inborn Errors of Immunity and Efforts to Diagnose Affected Children in the Absence of Training and Specialty Practice in Clinical Immunology in Ethiopia: a Brief Report Alemayehu, Tinsae

44 1 artikel
21 Inborn Errors of Immunity in Hidradenitis Suppurativa: a New Lead for HS Genetics? Miskinyte, Snaigune

44 1 artikel
22 Inherited Human BCL10 Deficiencies Alsaidalani, Ashwag A.

44 1 artikel
23 Isolated Chronic Mucocutaneous Candidiasis due to a Novel Duplication Variant of IL17RC Noma, Kosuke

44 1 artikel
24 Isolated Full Donor T-Cell Chimerism After Haploidentical TCRαβ/CD19 Depleted HSCT Maintains Remission of Familial HLH Consonni, Filippo

44 1 artikel
25 Letermovir for CMV Prophylaxis in Very High-Risk Pediatric Hematopoietic Stem Cell Transplantation Recipients for Inborn Errors of Immunity César, Thibaut

44 1 artikel
26 Modulating the PI3K Signalling Pathway in Activated PI3K Delta Syndrome: a Clinical Perspective Berglund, Lucinda J.

44 1 artikel
27 Novel Compound Heterozygous ZAP70 R37G A507T Mutations in Infant with Severe Immunodeficiency Benavides, Nathalia

44 1 artikel
28 OTULIN Haploinsufficiency-Related Fasciitis and Skin Necrosis Treated by TNF Inhibition Arts, Rob J. W.

44 1 artikel
29 Pediatric Necrobiotic Xanthogranuloma as a Novel Phenotype of IKAROS Gain of Function Guess, Rachel

44 1 artikel
30 Plasma Levels of mir-34a-5p Correlate with Systemic Inflammation and Low Naïve CD4 T Cells in Common Variable Immunodeficiency Nyström, Sofia

44 1 artikel
31 Prevalence and Characteristics of Non-tuberculous Mycobacteria (NTM) Infection in Recipients of Allogeneic Hematopoietic Stem Cell Transplantation: a Systematic Review and Meta-analysis Cinicola, Bianca Laura

44 1 artikel
32 Proposal for a Disease Activity Score and Disease Damage Score for ADA2 Deficiency: the DADA2AI and DADA2DI Bucciol, Giorgia

44 1 artikel
33 Recent Insights in Pyrin Inflammasome Activation: Identifying Potential Novel Therapeutic Approaches in Pyrin-Associated Autoinflammatory Syndromes Wouters, Flore

44 1 artikel
34 Reducing Mortality and Morbidity in Children with Severe Combined Immunodeficiency in Switzerland: the Role of Newborn Screening Soomann, Maarja

44 1 artikel
35 Ruxolitinib Rescues Multiorgan Clinical Autoimmunity in Patients with APS-1 Lévy, Romain

44 1 artikel
36 The Human GP130 Cytokine Receptor and Its Expression—an Atlas and Functional Taxonomy of Genetic Variants Chen, Yin-Huai

44 1 artikel
37 The Journal of Clinical Immunology, “Moving On Up”: Its Impact on the Field of Inborn Errors of Immunity Bonagura, Vincent R.

44 1 artikel
38 “The Regimental Pediatrician”: “Dog March” with the Ranger Battalion Kostmann, Rolf

44 1 artikel
39 “The Regimental Pediatrician”: Driving in the Wilds Kostmann, Rolf

44 1 artikel
40 “The Regimental Pediatrician”: the Hungarian Professor Kostmann, Rolf

44 1 artikel
41 Unusual Manifestations of APECED Bosi, Isabelle

44 1 artikel
                             41 gevonden resultaten
 
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