Skin manifestations of primary immune deficiency diseases
DOI: 10.32364/2587-6821-2022-6-2-98-104
E.V. Churyukina1–3, D.A. Kudlay4–6
1Rostov State Medical University, Rostov-on-Don, Russian Federation
2Kuban State Medical University, Krasnodar, Russian Federation
3Southern District Medical Center of the Russian Federal Medical Biological Agency,
Rostov-on-Don, Russian Federation
4I.M. Sechenov First Moscow State Medical University (Sechenov University), Moscow,
Russian Federation
5National Research Center Institute of Immunology of the Russian Federal Medical
Biological Agency, Moscow, Russian Federation
6GENERIUM JSC, Moscow, Russian Federation
Primary immune deficiency diseases (PIDDs) are a group of severe genetically determined diseases caused by a disorder of the immunity links: humoral and cell-mediated links, phagocytosis, complement system. PIDDs are characterized by severe atypical recurrent infections, as well as autoimmune and oncological processes. In the case of clinical symptoms, skin manifestations in PIDDs allow to suspect the presence of congenital disorders of immunity. There is a technique in laboratory diagnostics of PIDDs, that determines a decrease in the number of T- and B-lymphocytes based on measuring the levels of TREC (T-cell Receptor Excision Circle) and KREC (Kappa-deleting Recombination Excision Circle), which are by-products of recombination of T- and B-cell receptor genes. TREC and KREC levels can be assessed using a reagent kit for quantifying TREC and KREC DNA by PCR in real time. The analysis can be conducted using both whole blood and DNA obtained from dried blood stains collected during the national newborn screening program. Today, quantitative analysis of TREC and KREC in dried blood stains on newborn screening cards is becoming the method of choice for newborn screening of PIDDs. The inclusion of the PIDDs diagnosis in the federal newbor n screening program will allow detecting disorders of the immune system before their clinical manifestations, which will allow to apply modern treatment protocols, reduce disability and ensure high patient survival.
Keywords: TREC, KREC, PIDDs, newborn screening, PCR, immunity, early diagnosis.
For citation: Churyukina E.V., Kudlay D.A. Skin manifestations of primary immune deficiency diseases. Russian Medical Inquiry. 2022;6(2):98–104 (in Russ.). DOI: 10.32364/2587-6821-2022-6-2-98-104.
About the authors:
Ella V. Churyukina — C. Sc. (Med.), Associate Professor, Head of the Department of Allergic and Autoimmune Diseases of the Research Institute of Obstetrics and Pediatrics, Rostov State Medical University; 29, Nakhichevansky lane, Rostov-on-Don, 344022, Russian Federation; Associate Professor of the Department of Clinical Immunology, Allergology and Laboratory Diagnostics of the Faculty of Advanced Training and Professional Retraining of Specialists, Kuban State Medical University; 4, Mitrofan Sedin str., Krasnodar, 350063, Russian Federation; Head of the Center of Allergology, Immunology and Biological Therapy, Southern District Medical Center of the Russian Federal Medical Biological Agency; 6, 1st Line, Rostov-on-Don, 344019, Russian Federation; ORCID iD 0000-0001-6407-6117.
Dmitry A. Kudlay — Dr. Sc. (Med.), Professor of the Department of Pharmacology of the Institute of Pharmacy, I.M. Sechenov First Moscow State Medical University (Sechenov University); 8, bld. 2, Trubetskaya str., Moscow, 119991, Russian Federation; Leading Researcher of the Laboratory of Personalized Medicine and Molecular Immunology No. 71, National Research Center Institute of Immunology of the Russian Federal Medical Biological Agency; 24, Kashirskoe highway, Moscow, 115522, Russian Federation; Vice President for the Introduction of New Medical Technologies, GENERIUM JSC; 10, Testovskaya str., Moscow, 123112, Russian Federation; ORCID iD 0000-0003-1878-4467.
Contact information: Ella V. Churyukina, e-mail: echuryukina@mail.ru.
Financial Disclosure: no authors have a financial or property interest in any material or method mentioned.
Conflict of interests: Dmitry A. Kudlay is a full-time employee of GENERIUM JSC.
Received 04.02.2022.
Revised 02.03.2022.
Accepted 29.03.2022.
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