Faranaz Atschekzei
Overview
Explore the profile of Faranaz Atschekzei including associated specialties, affiliations and a list of published articles.
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Articles
46
Citations
640
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Recent Articles
1.
Atschekzei F, Traidl S, Carlens J, Schutz K, von Hardenberg S, Elsayed A, et al.
Front Immunol
. 2024 Sep;
15:1400348.
PMID: 39247195
Objective: The signal transducer and activator of transcription 3 (STAT3) gain-of-function (GOF) syndrome (STAT3-GOF) is an inborn error of immunity (IEI) characterized by diverse manifestations of immune dysregulation that necessitate...
2.
Anim M, Sogkas G, Camacho-Ordonez N, Schmidt G, Elsayed A, Proietti M, et al.
Clin Immunol
. 2024 Jul;
266:110326.
PMID: 39059757
The interferon regulatory factor 2 binding protein 2 (IRF2BP2) is a transcriptional regulator, functioning a transcriptional corepressor by interacting with the interferon regulatory factor-2. The ubiquitous expression of IRF2BP2 by...
3.
Elsayed A, von Hardenberg S, Atschekzei F, Graalmann T, Janke C, Witte T, et al.
J Allergy Clin Immunol
. 2024 Jun;
154(4):1069-1075.
PMID: 38866210
Background: Human tapasin deficiency is reported to cause an autosomal-recessive inborn error of immunity characterized by substantially reduced cell surface expression of major histocompatibility complex class I (MHC-I). Objective: We...
4.
Atschekzei F, Fedchenko M, Elsayed A, Dubrowinskaja N, Graalmann T, Ringshausen F, et al.
RMD Open
. 2023 Dec;
9(4).
PMID: 38088248
Prolidase deficiency (PD) is a rare autosomal recessive inborn error of immunity caused by biallelic homozygous or compound heterozygous loss-of-function mutations in , the gene that encodes prolidase. PD typically...
5.
Le Voyer T, Parent A, Liu X, Cederholm A, Gervais A, Rosain J, et al.
Nature
. 2023 Nov;
623(7988):803-813.
PMID: 37938781
Patients with autoimmune polyendocrinopathy syndrome type 1 (APS-1) caused by autosomal recessive AIRE deficiency produce autoantibodies that neutralize type I interferons (IFNs), conferring a predisposition to life-threatening COVID-19 pneumonia. Here...
6.
Anim M, Sogkas G, Schmidt G, Dubrowinskaja N, Witte T, Schmidt R, et al.
Front Immunol
. 2023 May;
14:1212029.
PMID: 37234149
[This corrects the article DOI: 10.3389/fimmu.2021.767188.].
7.
Staus P, Rusch S, El-Helou S, Muller G, Krausz M, Geisen U, et al.
J Clin Immunol
. 2023 Apr;
43(6):1289-1301.
PMID: 37084016
Patient registries are a very important and essential tool for investigating rare diseases, as most physicians only see a limited number of cases during their career. Diseases of multi-organ autoimmunity...
8.
Pott N, Atschekzei F, Pott C, Ernst D, Witte T, Sogkas G
RMD Open
. 2022 Dec;
8(2).
PMID: 36583733
Objective: The clinical spectrum of primary antibody deficiencies (PADs) and especially common variable immunodeficiency (CVID) includes various autoimmune disorders. We studied the prevalence and the features of articular rheumatic disease...
9.
Olfe L, von Hardenberg S, Hofmann W, Auber B, Baumann U, Beier R, et al.
Int Arch Allergy Immunol
. 2022 Oct;
184(1):76-84.
PMID: 36273440
Background: The diagnostic yield of next-generation sequencing (NGS) technologies in the diagnosis of monogenic inborn errors of immunity (IEI) remains limited, rarely exceeding 30%. Monoallelic pathogenic germline variants in cytotoxic...
10.
Atschekzei F, Dubrowinskaja N, Anim M, Thiele T, Witte T, Sogkas G
RMD Open
. 2022 Sep;
8(2).
PMID: 36113963
Objectives: Besides adaptive immunity genes, genetic risk factors for psoriatic arthritis (PsA) include innate immunity loci, which suggests an autoinflammatory disease mechanism, at least in a subset of patients. Here,...