Dr. Faranaz Atschekzei participates in RESIST research project A2.
| My Research Interest in RESIST |
The primary antibody deficiency syndromes are a group of rare disorders characterized by an inability to produce clinically effective immunoglobulin responses. A number of risk factors have been proposed to have a role in the aetiology of antibody-deficiency. These include genetic susceptibility, defects in innate immunity, undefined environmental factors, and alterations in the microbiome. Recent genetic studies appear to explain only a minority of the risk associated with the development of antibody-deficiency. As epigenetic changes are dynamically responsive to the environment, they are likely to play a key role in the pathogenesis of antibody-deficiency. A better understanding of those factors could provide additional insight into the fundamental processes of disease pathogenesis, offering a better perspective towards patient counselling and precision medicine.
Our main objective in RESIST is to explore the complexities of primary antibody-deficiency by combining DNA sequencing with gene expression and methylation data to identify novel disease-associated pathways and therapeutic biomarkers.
Dr. Atschekzei about her scientific work
Dr. Faranaz Atschekzei – Curriculum Vitae
Current Position
Undergraduate and Postgraduate Training
Academic and Research Posts
Other Scientific Roles
10 Selected Publications
Atschekzei F, Ahmad F, Witte T, Jacobs R, Schmidt RE (2016) Limitation of Simultaneous Analysis of T-Cell Receptor and kappa-Deleting Recombination Excision Circles Based on Multiplex Real-Time Polymerase Chain Reaction in Common Variable Immunodeficiency Patients. Int Arch Allergy Immunol 171:136-140
Atschekzei F, Hennenlotter J, Janisch S et al (2012) SFRP1 CpG island methylation locus is associated with renal cell cancer susceptibility and disease recurrence. Epigenetics 7:447-457
Schroder C, Baerlecken NT, Pannicke U et al (2017) Evaluation of RAG1 mutations in an adult with combined immunodeficiency and progressive multifocal leukoencephalopathy. Clin Immunol 179:1-7
Schroder C, Sogkas G, Fliegauf M et al (2019) Late-Onset Antibody Deficiency Due to Monoallelic Alterations in NFKB1. Front Immunol 10:2618
Sogkas G, Adriawan IR, Dubrowinskaja N, Atschekzei F, Schmidt RE (2020) Homeostatic and pathogenic roles of PI3Kdelta in the human immune system. Adv Immunol 146:109-137
Sogkas G, Adriawan IR, Ringshausen FC et al (2020) A novel NFKBIA variant substituting serine 36 of IkappaBalpha causes immunodeficiency with warts, bronchiectasis and juvenile rheumatoid arthritis in the absence of ectodermal dysplasia. Clin Immunol 210:108269
Sogkas G, Dubrowinskaja N, Adriawan IR et al (2020) High frequency of variants in genes associated with primary immunodeficiencies in patients with rheumatic diseases with secondary hypogammaglobulinaemia. Ann Rheum Dis
Sogkas G, Dubrowinskaja N, Bergmann AK et al (2019) Progressive Immunodeficiency with Gradual Depletion of B and CD4(+) T Cells in Immunodeficiency, Centromeric Instability and Facial Anomalies Syndrome 2 (ICF2). Diseases 7:10.3390/diseases7020034
Sogkas G, Fedchenko M, Dhingra A, Jablonka A, Schmidt RE, Atschekzei F (2018) Primary immunodeficiency disorder caused by phosphoinositide 3-kinase delta deficiency. J Allergy Clin Immunol 142:1650-1653.e2
Sogkas G, Hirsch S, Jablonka A, Witte T, Schmidt RE, Atschekzei F (2020) Dupilumab to treat severe atopic dermatitis in autosomal dominant hyper-IgE syndrome. Clin Immunol 215:108452
