Interleukin-1 Receptor-Associated Kinase 4 Deficiency in a Greek Teenager
Joint Authors
Karananou, Panagiota
Alataki, Anastasia
Papadopoulou-Alataki, Efimia
Source
Issue
Vol. 2020, Issue 2020 (31 Dec. 2020), pp.1-5, 5 p.
Publisher
Hindawi Publishing Corporation
Publication Date
2020-10-08
Country of Publication
Egypt
No. of Pages
5
Main Subjects
Abstract EN
Background.
Human interleukin- (IL-) 1 receptor-associated kinase 4 (IRAK-4) deficiency is a recently described primary immunodeficiency.
It is a rare, autosomal recessive immunodeficiency that impairs toll/IL-1R immunity, except for the toll-like receptor (TLR) 3- and TLR4-interferon alpha (IFNA)/beta (IFNB) pathways.
Case Report.
We report the first patient in Greece with IRAK-4 deficiency.
From the age of 8 months, she presented with recurrent infections of the upper and lower respiratory tract and skin abscesses.
For this, she had been repeatedly hospitalized and treated empirically with intravenous antibiotics.
No severe viral, mycobacterial, or fungal infections were noted.
Her immunological laboratory evaluation revealed low serum IgA and restored in subsequent measurements; normal IgG, IgM, and IgE; and normal serum IgG subclasses.
Peripheral blood immunophenotyping by flow cytometry and dihydrorhodamine (DHR) test revealed normal counts.
She was able to make functional antibodies against vaccine antigens, including tetanus and diphtheria.
She was administered with empirical IgG substitution for 5 years until the age of 12 years, and she has never experienced invasive bacterial infections so far.
DNA analysis revealed a heterozygous variant in the patient: c.823delT (p.S275fs∗13 at protein level) in the IRAK4 gene.
Conclusions.
The importance of clinical suspicion is emphasized in order to confirm the diagnosis by IRAK4 gene sequencing and provide the appropriate treatment for this rare primary immunodeficiency, as soon as possible.
American Psychological Association (APA)
Karananou, Panagiota& Alataki, Anastasia& Papadopoulou-Alataki, Efimia. 2020. Interleukin-1 Receptor-Associated Kinase 4 Deficiency in a Greek Teenager. Case Reports in Immunology،Vol. 2020, no. 2020, pp.1-5.
https://search.emarefa.net/detail/BIM-1148018
Modern Language Association (MLA)
Karananou, Panagiota…[et al.]. Interleukin-1 Receptor-Associated Kinase 4 Deficiency in a Greek Teenager. Case Reports in Immunology No. 2020 (2020), pp.1-5.
https://search.emarefa.net/detail/BIM-1148018
American Medical Association (AMA)
Karananou, Panagiota& Alataki, Anastasia& Papadopoulou-Alataki, Efimia. Interleukin-1 Receptor-Associated Kinase 4 Deficiency in a Greek Teenager. Case Reports in Immunology. 2020. Vol. 2020, no. 2020, pp.1-5.
https://search.emarefa.net/detail/BIM-1148018
Data Type
Journal Articles
Language
English
Notes
Includes bibliographical references
Record ID
BIM-1148018