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Works (48)

A rare form of immunodeficiency condition: Roifman syndrome

Rossiyskiy Vestnik Perinatologii i Pediatrii (Russian Bulletin of Perinatology and Pediatrics)
2025-03-06 | Journal article
DOI: 10.21508/1027-4065-2025-70-1-70-74
Contributors: Yu. L. Mizernitsky; T. N. Pronkina; I. E. Zorina; V. I. Burlakov; Yu. A. Rodina; A. Yu. Shcherbin
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Crossref

Development and validation of a method for assessing STAT1 protein phosphorylation as a diagnostic tool for patients with defects in the conforming gene

Immunologiya
2024 | Journal article
DOI: 10.33029/1816-2134-2024-45-3-329-342
Contributors: M.S. Fadeeva; T.A. Sozonova; D.V. Bogdanova; M.Yu. Alexenko; E.A. Kulakovskaya; V.A. Vedmedskaya; O.B. Lodoeva; Ju.A. Rodina; A.Yu. Shcherbina; D.Е. Pershin
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Development of an additional method for X-linked lymphoproliferative syndrome type 2 diagnosis based on the assessment of muramyldipeptide-stimulated expression of tumor necrosis factor by monocytes

Immunologiya
2024 | Journal article
DOI: 10.33029/1816-2134-2024-45-2-203-211
Contributors: E.Ya. Musaeva; E.A. Kulakovskaya; V.A. Vedmedskaya; Ju.A. Rodina; D.Е. Pershin; A.Yu. Shcherbina; M.M. Maschan
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Subcutaneous immunoglobulin 16.5 % given by the rapid push method in patients with inborn errors of immunity: a prospective multicenter study of quality of life

Russian Journal of Allergy
2024-12-28 | Journal article
DOI: 10.36691/RJA16969
Contributors: Asmik Ya. Avedova; Elena V. Deripapa; Yulia A. Rodina; Anna A. Mukhina; Elena A. Latysheva; Daria V. Yukhacheva; Vasily I. Burlakov; Nellie Yu. Kan; Daria V. Bogdanova; Anna A. Moiseeva et al.
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Genetic diversity in pediatric patients with inborn errors of immunity in Russia

Pediatric Hematology/Oncology and Immunopathology
2024-12-13 | Journal article
DOI: 10.24287/1726-1708-2024-23-4-131-137
Contributors: N. B. Kuzmenko; M. A. Alexenko; A. A. Mukhina; Yu. A. Rodina; M. S. Fadeeva; D. E. Pershin; A. M. Kieva; T. V. Varlamova; D. V. Yukhacheva; V. I. Burlakov et al.
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Thrombocytopenia of newborns: an observational study

Pediatric Hematology/Oncology and Immunopathology
2024-12-13 | Journal article
DOI: 10.24287/1726-1708-2024-23-4-34-46
Contributors: E. V. Suntsova; E. V. Deripapa; E. V. Raykina; A. A. Mukhina; Yu. A. Rodina; D. D. Baydildina; L. A. Khachatryan; U. N. Petrova; K. S. Antonova; Z. A. Аbashidze et al.
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Routing improvement in the expanded neonatal screening system for primary immunodeficiencies diagnosis

Pediatria. Journal named after G.N. Speransky
2024-12-10 | Journal article
DOI: 10.24110/0031-403X-2024-103-6-134-139
Contributors: A.V. Marakhonov; A.A. Mukhina; G.V. Baydakova; I.Yu. Efimova; M.P. Petrik; Yu.A. Rodina; E.Yu. Zakharova; A.I. Osipyants; S.V. Voronin; A.G. Rumyantsev et al.
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A Rare Case of <i>TP63</i>-Associated Lymphopenia Revealed by Newborn Screening Using TREC

International Journal of Molecular Sciences
2024-10 | Journal article | Author
DOI: 10.3390/ijms251910844
Contributors: Andrey Marakhonov; Elena Serebryakova; Anna Mukhina; Anastasia Vechkasova; Nikolai Prokhorov; IRINA EFIMOVA; Natalia Balinova; Anastasia Lobenskaya; Tatyana Vasilyeva; Victoria Zabnenkova et al.
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Multidisciplinary Digital Publishing Institute

A rare variant of primary immunodeficiency with a STAT1 GOF defect in the practice of a pulmonologist

Rossiyskiy Vestnik Perinatologii i Pediatrii (Russian Bulletin of Perinatology and Pediatrics)
2024-07-13 | Journal article
DOI: 10.21508/1027-4065-2024-69-3-125-131
Contributors: Yu. L. Mizernitskiy; I. E. Zorina; A. R. Shudueva; D. V. Bogdanova; D. V. Yukhacheva; M. S. Fadeeva; D. E. Pershin; Yu. A. Rodina; A. Yu. Shcherbina
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Newborn Screening for Severe T and B Cell Lymphopenia Using TREC/KREC Detection: A Large-Scale Pilot Study of 202,908 Newborns

Journal of Clinical Immunology
2024-05 | Journal article
DOI: 10.1007/s10875-024-01691-z
Contributors: Andrey V. Marakhonov; Irina Yu. Efimova; Anna A. Mukhina; Rena A. Zinchenko; Natalya V. Balinova; Yulia Rodina; Dmitry Pershin; Oxana P. Ryzhkova; Anna A. Orlova; Viktoriia V. Zabnenkova et al.
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PRIMARY COMBINED IMMUNODEFICIENCY WITH CERNUNNOS PROTEIN DEFICIENCY: CLINICAL CASES AND BIBLIOGRAPHICAL REVIEW

Pediatria. Journal named after G.N. Speransky
2024-04-11 | Journal article
DOI: 10.24110/0031-403X-2024-103-2-112-117
Contributors: А.Ya. Avedova; A.A. Roppelt; Yu.A. Rodina; E.V. Deripapa; A.Yu. Shcherbina
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Immunodeficiency masks: a complex diagnostic case of Nijmegen breakage syndrome

Rossiyskiy Vestnik Perinatologii i Pediatrii (Russian Bulletin of Perinatology and Pediatrics)
2024-01-13 | Journal article
DOI: 10.21508/1027-4065-2023-68-6-94-98
Contributors: Y. L. Mizernitskiy; I. E. Zorina; E. S. Ryngachenko; T. N. Kuzmina; E. V. Deripapa; Yu. A. Rodina; A. Yu. Shcherbina
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Experience with the use of Hizentra, an immunoglobulin preparation for subcutaneous administration, in patients with primary immunodeficiency diseases

Pediatric Hematology/Oncology and Immunopathology
2023-05-12 | Journal article
DOI: 10.24287/1726-1708-2023-22-2-92-97
Contributors: A. Ya. Avedova; Yu. А. Rodina; D. V. Yukhacheva; V. I. Burlakov; E. V. Deripapa; A. Yu. Shcherbina
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CUTTING EDEMA ATTACKS WITH THE PATHOGENETIC THERAPY IN CHILDREN WITH HEREDITARY ANGIOEDEMA

Pediatria. Journal named after G.N. Speransky
2023-04-21 | Journal article
DOI: 10.24110/0031-403X-2023-102-2-41-51
Contributors: E.A. Viktorova; N.B. Kuzmenko; Yu.A. Rodina; A.A. Mukhina; O.N. Mironenko; I.A. Shifrin; А.Yu. Shcherbina
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IBD-LIKE LESIONS IN PATIENTS WITH X-LINKED AGAMMAGLOBULINEMIA: BIBLIOGRAPHICAL REVIEW AND CLINICAL CASE

Pediatria. Journal named after G.N. Speransky
2023-04-21 | Journal article
DOI: 10.24110/0031-403X-2023-102-2-147-152
Contributors: E.K. Mgdsyan; D.V. Yukhacheva; V.I. Burlakov; O.A. Shvets; E.A. Viktorova; S.G. Mann; E.V. Raikina; N.E. Shchigoleva; Yu.A. Rodina; A.Yu. Shcherbina
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NEONATAL SCREENING, POSTNATAL DIAGNOSIS AND TACTICS OF PRECLINICAL TREATMENT AND PREVENTION OF PRIMARY IMMUNODEFICIENCIES IN CHILDREN. GUIDELINES BY THE EXPERTS FROM THE NATIONAL ASSOCIATION OF EXPERTS IN PRIMARY IMMUNODEFICIENCIES (NAEPID) AND THE ASSOCIATION OF MEDICAL GENETICS (AMG) OF RUSSIA

Pediatria. Journal named after G.N. Speransky
2023-04-21 | Journal article
DOI: 10.24110/0031-403X-2023-102-2-11-33
Contributors: S.V. Voronin; R.A. Zinchenko; I.Yu. Efimova; S.I. Kutsev; A.V. Marakhonov; A.A. Mukhina; G.A. Novichkova; D.E. Pershin; Yu.A. Rodina; A.G. Rumyantsev et al.
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The assessment of the efficacy and safety of the personalized rehabilitation of the second stage using modern methods and technologies in children with primary immunodeficiencies

Pediatric Hematology/Oncology and Immunopathology
2023-02-14 | Journal article
DOI: 10.24287/1726-1708-2023-22-1-90-98
Contributors: E. K. Mgdsyan; Yu. A. Rodina; A. B. Abrosimov; E. V. Zhukovskaya; A. F. Karelin; A. Y. Shcherbina; G. A. Novichkova
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Treatment of lymphoid malignancies in patients with primary immunodeficiencies associated with DNA repair defects

Pediatric Hematology/Oncology and Immunopathology
2023-02-14 | Journal article
DOI: 10.24287/1726-1708-2023-22-1-53-61
Contributors: L. Kh. Anderzhanova; Yu. A. Rodina; A. A. Mukhina; Yu. G. Abugova; D. S. Abramov; M. Yu. Aleksenko; L. A. Vavilova; Yu. Yu. Dyakonova; D. A. Evstratov; E. V. Raykina et al.
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X-linked agammaglobulinemia: a review of literature and a case report

Pediatric Hematology/Oncology and Immunopathology
2023-02-14 | Journal article
DOI: 10.24287/1726-1708-2023-22-1-139-146
Contributors: E. K. Mgdsyan; D. V. Yukhacheva; E. A. Malakhova; D. E. Pershin; A. M. Kieva; E. V. Raikina; N. M. Kondratieva; E. I. Alekseeva; Yu. A. Rodina; A. Y. Shcherbina
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A case report of autoinflammation and PLCy2-associated antibody deficiency and immune dysregulation

Pediatric Hematology/Oncology and Immunopathology
2022-12-26 | Journal article
DOI: 10.24287/1726-1708-2022-21-4-163-168
Contributors: M. E. Leontyeva; D. V. Bogdanova; A. A. Moiseeva; V. I. Burlakov; Z. A. Nesterenko; A. Y. Merkushov; N. Y. Kan; A. L. Khoreva; Y. A. Rodina; O. A. Shvets et al.
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Clinical and laboratory characteristics of a group of patients with ataxia-telangiectasia syndrome

Pediatric Hematology/Oncology and Immunopathology
2022-08-29 | Journal article
DOI: 10.24287/1726-1708-2022-21-3-47-55
Contributors: T. V. Asekretova; L. H. Anderzhanova; M. E. Leontyeva; Yu. A. Rodina; A. V. Panferova; M. Yu. Alexenko; D. E. Pеrshin; M. B. Khadzhieva; S. S. Larin; E. V. Raykina et al.
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A familial case of Louis–Bar syndrome

Pediatric Hematology/Oncology and Immunopathology
2022-05-19 | Journal article
DOI: 10.24287/1726-1708-2022-21-2-136-140
Contributors: T. V. Asekretova; A. V. Sineokova; V. V. Lebedev; Yu. A. Rodina; E. V. Deripapa
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IMMUNE DYSREGULATION SYNDROME WITH CTLA4 HAPLOINSUFFICIENCY: CLINICAL AND IMMUNOLOGICAL PHENOTYPE AND THERAPEUTIC APPROACHES

Pediatria. Journal named after G.N. Speransky
2022-04-15 | Journal article
DOI: 10.24110/0031-403X-2022-101-2-56-64
Contributors: D.V. Bogdanova; Yu.A. Rodina; A.Yu. Shcherbina
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Analysis of familial cases of primary immunodeficiency in the context of genetic counseling

Pediatric Hematology/Oncology and Immunopathology
2021-12-21 | Journal article
DOI: 10.24287/1726-1708-2021-20-4-125-133
Contributors: N. B. Kuzmenko; A. A. Mukhina; Yu. A. Rodina; A. L. Kozlova; E. V. Deripapa; E. A. Viktorova; D. V. Yukhacheva; E. V. Raykina; D. E. Pershin; A. Yu. Shcherbina
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Preexisting autoantibodies to type I IFNs underlie critical COVID-19 pneumonia in patients with APS-1

Journal of Experimental Medicine
2021-07-05 | Journal article
DOI: 10.1084/jem.20210554
Contributors: Paul Bastard; Elizaveta Orlova; Leila Sozaeva; Romain Lévy; Alyssa James; Monica M. Schmitt; Sebastian Ochoa; Maria Kareva; Yulia Rodina; Adrian Gervais et al.
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CLINICAL CHARACTERISTICS OF A GROUP OF PATIENTS WITH CTLA4 HAPLOINSUFFICIENCY SYNDROME: EXPERIENCE OF ONE CENTER

Pediatria. Journal named after G.N. Speransky
2021-04-12 | Journal article
DOI: 10.24110/0031-403X-2021-100-2-22-30
Contributors: D.V. Bogdanova; Y.A. Rodina; E.V. Raykina; M.Yu. Alexenko; A.M. Kieva; A.A. Roppelt; D.V. Yukhacheva; A.L. Laberko; V.I. Burlakov; A.L. Khoreva et al.
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Efficacy of romiplostim in treatment of thrombocytopenia in children with Wiskott–Aldrich syndrome

British Journal of Haematology
2021-01 | Journal article
DOI: 10.1111/bjh.17174
Contributors: Anna Khoreva; Irina Abramova; Elena Deripapa; Yulia Rodina; Anna Roppelt; Dmitry Pershin; Sergey Larin; Kirill Voronin; Alexey Maschan; Galina Novichkova et al.
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Characteristics of a group of patients with WHIM syndrome

Pediatric Hematology/Oncology and Immunopathology
2021-01-11 | Journal article
DOI: 10.24287/1726-1708-2020-19-4suppl-68-75
Contributors: E. A. Deordieva; O. A. Shvets; A. L. Laberko; D. V. Yukhacheva; T. V. Konyukhova; S. A. Plyasunova; E. V. Raykina; K. A. Voronin; Yu. A. Rodinа; G. A. Novichkova et al.
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Chromosomal aberrations as the cause of a complex phenotype in children with primary immunodeficiencies

Pediatric Hematology/Oncology and Immunopathology
2021-01-11 | Journal article
DOI: 10.24287/1726-1708-2020-19-4suppl-62-67
Contributors: N. B. Kuzmenko; A. A. Mukhina; Yu. A. Rodina; E. V. Deripapa; A. L. Khoreva; O. A. Shvets; E. A. Deordieva; V. I. Burlakov; A. A. Roppelt; D. V. Yukhacheva et al.
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Immunoglobulin replacement therapy in patients with primary immunodeficiency diseases in Russia

Pediatric Hematology/Oncology and Immunopathology
2021-01-11 | Journal article
DOI: 10.24287/1726-1708-2020-19-4suppl-18-29
Contributors: A. A. Mukhina; I. N. Abramova; N. V. Kuzmenko; Yu. A. Rodina; T. V. Latysheva; E. A. Latysheva; A. M. Kostinova; N. I. Ilyina; A. S. Katrysheva; E. V. Sudarikova et al.
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Influence of clinical and immunophenotypic variants of severe combined immunodeficiency on severity and outcomes of opportunistic infections

Pediatric Hematology/Oncology and Immunopathology
2021-01-11 | Journal article
DOI: 10.24287/1726-1708-2020-19-4suppl-30-38
Contributors: A. L. Laberko; Yu. A. Rodina; E. V. Deripapa; A. A. Roppelt; D. V. Yukhacheva; D. E. Pershin; G. G. Solopova; V. V. Brilliantova; M. Yu. Alexenko; V. V. Zakharova et al.
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Non-infectious complications in the group of pediatric patients with chronic granulomatous disease

Pediatric Hematology/Oncology and Immunopathology
2021-01-11 | Journal article
DOI: 10.24287/1726-1708-2020-19-4suppl-50-61
Contributors: D. V. Yukhacheva; Yu. A. Rodina; A. L. Laberko; A. A. Roppelt; V. I. Burlakov; E. V. Deripapa; N. Yu. Kan; A. L. Khoreva; D. S. Abramov; D. M. Konovalov et al.
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The efficacy and safety of romiplostim in the treatment of thrombocytopenia in pediatric patients with Wiskott–Aldrich syndrome: the results of a retrospective study

Pediatric Hematology/Oncology and Immunopathology
2021-01-11 | Journal article
DOI: 10.24287/1726-1708-2020-19-4suppl-39-49
Contributors: A. L. Khoreva; I. N. Abramova; E. V. Deripapa; Yu. A. Rodina; A. A. Roppelt; V. I. Burlakov; D. E. Pershin; S. S. Larin; E. V. Raykina; T. V. Varlamova et al.
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Epstein–Barr virus-associated smooth muscle tumors in patients with primary immunodeficiencies

Pediatric Hematology/Oncology and Immunopathology
2020-12-22 | Journal article
DOI: 10.24287/1726-1708-2020-19-4-165-177
Contributors: Z. А. Nesterenko; A. А. Roppelt; Yu. A. Rodina; A. A. Moiseeva; E. V. Deripapa; A. L. Kozlova; D. S. Abramov; D. Yu. Kachanov; M. V. Teleshova; S. R. Talypov et al.
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Verification of X-linked lymphoproliferative syndrome type 1 and 2 using a flow cytometry method

Pediatric Hematology/Oncology and Immunopathology
2020-12-22 | Journal article
DOI: 10.24287/1726-1708-2020-19-4-108-118
Contributors: D. Е. Pershin; V. А. Vedmedskaya; M. S. Fadeeva; I. S. Vladimirov; E. A. Kulakovskaya; A. A. Roppelt; A. M. Kieva; E. V. Raykina; Yu. A. Rodina; M. A. Maschan et al.
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COVID-19 INFECTION IN PATIENTS WITH PRIMARY IMMUNODEFICIENCIES

Pediatria. Journal named after G.N. Speransky
2020-12-14 | Journal article
DOI: 10.24110/0031-403X-2020-99-6-83-90
Contributors: N.Yu. Kan; A.A. Mukhina; Yu.A. Rodina; N.B. Kuzmenko; E.A. Deordieva; A.L. Kozlova; E.V. Deripapa; A.A. Roppelt; A.L. Khoreva; A.A. Moiseeva et al.
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Federal clinical guidelines. Primary immunodeficiency: severe combined immunodeficiency

Russian Journal of Allergy
2020-10-29 | Journal article
DOI: 10.36691/RJA1381
Contributors: Yulia A. Rodina; Elena V. Deripapa; Alexandra L. Laberko; Dmitry E. Pershin; Ekaterina V. Kalinina; Elena V. Raikina; Anna A. Roppelt; Darya V. Yukhacheva; Vasiliy I. Burlakov; Dmitry N. Balashov et al.
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Haematological complications of X-linked lymphoproliferative syndrome type 1 and 2

Pediatric Hematology/Oncology and Immunopathology
2020-10-09 | Journal article
DOI: 10.24287/1726-1708-2020-19-3-62-72
Contributors: A. A. Roppelt; A. L. Laberko; V. I. Burlakov; N. Yu. Kan; Yu. A. Rodina; D. V. Yukhacheva; E. A. Viktorova; O. S. Selezneva; D. E. Pershin; V. A. Vedmedskaya et al.
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BCG-Related Inflammatory Syndromes in Severe Combined Immunodeficiency After TCRαβ+/CD19+ Depleted HSCT

Journal of Clinical Immunology
2020-05 | Journal article
DOI: 10.1007/s10875-020-00774-x
Contributors: Alexandra Laberko; Daria Yukhacheva; Yulia Rodina; Dmitriy Abramov; Dmitriy Konovalov; Svetlana Radygina; Larisa Shelikhova; Dmitry Pershin; Olga Kadnikova; Michael Maschan et al.
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CASTLEMAN DISEASE IN CHILDREN: SINGLE CENTER EXPERIENCE

Pediatria. Journal named after G.N. Speransky
2020-04-13 | Journal article
DOI: 10.24110/0031-403X-2020-99-2-32-42
Contributors: V.I. Burlakov; A.L. Kozlova; I.N. Abramova; Yu.A. Rodina; E.V. Deripapa; D.V. Yukhacheva; A.A. Roppelt; A.L. Laberko; S.A. Dibirova; E.A. Deordieva et al.
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EPIDEMIOLOGY OF PRIMARY IMMUNODEFICIENCIES IN THE RUSSIAN FEDERATION

Pediatria. Journal named after G.N. Speransky
2020-04-13 | Journal article
DOI: 10.24110/0031-403X-2020-99-2-16-32
Contributors: A.A. Mukhina; N.B. Kuzmenko; Yu.A. Rodina; A.L. Khoreva; A.A. Moiseeva; O.A. Shvets; I.V. Kondratenko; T.V. Latysheva; E.A. Latysheva; A.M. Kostinova et al.
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INTRAVENOUS IMMUNOGLOBULIN PREPARATIONS EVOLUTION AND THEIR CLINICAL USE IN PEDIATRIC PRACTICE

Pediatria. Journal named after G.N. Speransky
2019-08-12 | Journal article
DOI: 10.24110/0031-403X-2019-98-4-210-217
Contributors: I.N. Abramova; Yu.A. Rodina; A.Yu. Shcherbina
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Clinical case of proteasome-associated autoinflammatory syndrome-2 (PRAAS2)

Pediatric Hematology/Oncology and Immunopathology
2019-06-29 | Journal article
DOI: 10.24287/1726-1708-2019-18-2-108-113
Contributors: A. I. Terentieva; E. A. Viktorova; V. V. Zaharova; D. V. Konovalov; V. I. Burlakov; J. A. Rodina; N. B. Kuzmenko; E. V. Raikina; A. L. Kozlova
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CHARACTERISTICS OF PATIENTS WITH PRIMARY IMMUNODEFICIENCY STATES IN THE RUSSIAN FEDERATION: FROM BIRTH TO OLD AGE

Pediatria. Journal named after G.N. Speransky
2019-06-10 | Journal article
DOI: 10.24110/0031-403X-2019-98-3-24-31
Contributors: А.А. Mukhina; N.B. Kuzmenko; Yu.A. Rodina; I.V. Kondratenko; А.А. Bologov; T.V. Latysheva; A.P. Prodeus; A.N. Pampura; N.I. Ilyina; E.A. Latysheva et al.
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Clinical experience using selective immunomodulating targeted therapy of Interstitial lymphocytic lung disease in a group of pediatric patients with primary immunodeficiencies

Pediatric Hematology/Oncology and Immunopathology
2018 | Journal article
DOI: 10.24287/1726-1708-2018-17-3-50-59
Contributors: Y.A. Rodina; E.V. Deripapa; O.A. Shvets; A.A. Muhina; A.A. Roppelt; D.V. Yuhacheva; A.L. Laberko; V.I. Burlakov; D.S. Abramov; A.B. Golbitc et al.
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Therapy features of interstitial lymphocytic lung disease (ILLD) in patients with immune dysregulation syndromes: case report

Pediatric Hematology/Oncology and Immunopathology
2018 | Journal article
DOI: 10.24287/1726-1708-2018-17-3-103-110
Contributors: Y.A. Rodina; A.L. Horeva; I.N. Abramova; O.A. Shvets; V.I. Burlakov; G.V. Tereshenko; D.S. Abramov; E.V. Deripapa
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APPROACHES TO THE DIAGNOSIS AND THERAPY OF INTERSTITIAL LYMPHOCYTIC LUNG DISEASE IN PATIENTS WITH PRIMARY IMMUNODEFICIENCY STATES

Pediatria. Journal named after G.N. Speransky
2018-10-10 | Journal article
DOI: 10.24110/0031-403X-2018-97-5-130-140
Contributors: Y.A. Rodina; G.N. Tereshchenko; D.S. Abramov; A.Y. Shcherbina
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Crossref

NIJMEGEN SYNDROME IN CHILDREN: CLINICAL AND LABORATORY CHARACTERISTICS AND EVALUATION OF VARIOUS THERAPIES EFFICACY

Pediatria. Journal named after G.N. Speransky
2018-08-13 | Journal article
DOI: 10.24110/0031-403X-2018-97-4-116-124
Contributors: E.V. Deripapa; Y.A. Rodina; A.L. Laberko; D.N. Balashov; N.V. Myakova; S.B. Zimin; N.V. Davydova; M.A. Gordukova; D.S. Abramov; G.V. Pai et al.
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