A. Shcherbina

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Preexisting autoantibodies to type I IFNs underlie critical COVID-19 pneumonia in patients with APS-1

Mark S. Anderson, J. Casanova, L. Notarangelo, 2021, The Journal of experimental medicine.

WASP localizes to the membrane skeleton of platelets

A. Shcherbina, E. Remold-O’Donnell, M. Lutskiy, 2007, British journal of haematology.

Neuroimmune Aspects of the Pathogenesis of Tourette’s Syndrome and Experience in the Use of Immunoglobulins in Children

V. Zykov, A. Shcherbina, E. Novikova, 2009, Neuroscience and Behavioral Physiology.

Overactive WASp in XLN leads to aberrant B cell division and accelerated plasma cell generation.

Minghui He, C. Cunningham-Rundles, L. Hammarström, 2021, The Journal of allergy and clinical immunology.

Meningococcal B Vaccine Immunogenicity in Children With Defects in Complement and Splenic Function

Ly-Mee Yu, S. Faust, F. Martinón-Torres, 2018, Pediatrics.

Canakinumab for the Treatment of Autoinflammatory Recurrent Fever Syndromes

E. Ben-Chetrit, S. Ozen, M. Moutschen, 2018, The New England journal of medicine.

Platelet function and bleeding at different phases of childhood immune thrombocytopenia

A. Martyanov, M. Panteleev, A. Sveshnikova, 2021, Scientific Reports.

Rare CVID-like phenotype of autoimmune lymphoproliferative syndrome

A. Shcherbina, M. Kurnikova, N. Smetanina, 2021, Pediatric Hematology/Oncology and Immunopathology.

Single-Center Experience of Unrelated and Haploidentical Stem Cell Transplantation with TCRαβ and CD19 Depletion in Children with Primary Immunodeficiency Syndromes.

Y. Skvortsova, A. Shcherbina, M. Maschan, 2015, Biology of blood and marrow transplantation : journal of the American Society for Blood and Marrow Transplantation.

X-linked agammaglobulinemia (XLA): Phenotype, diagnosis, and therapeutic challenges around the world

A. Plebani, C. Pignata, H. Kanegane, 2019, The World Allergy Organization Journal.

Rituximab and Abatacept Are Effective in Differential Treatment of Interstitial Lymphocytic Lung Disease in Children With Primary Immunodeficiencies

Y. Rodina, A. Shcherbina, G. Novichkova, 2021, Frontiers in Immunology.

Disease Progression of WHIM Syndrome in an International Cohort of 66 Pediatric and Adult Patients

Shannon M. McNulty, J. Walter, H. Kanegane, 2022, Journal of Clinical Immunology.

Epstein–Barr virus-associated smooth muscle tumors in patients with primary immunodeficiencies

A. Shcherbina, I. Mersiyanova, D. Kachanov, 2020, Pediatric Hematology/Oncology and Immunopathology.

Long-term follow-up of IPEX syndrome patients after different therapeutic strategies: An international multicenter retrospective study

F. Rieux-Laucat, A. Schulz, H. Kanegane, 2017, The Journal of allergy and clinical immunology.

Cryopyrin-associated periodic syndrome assess the efficacy and safety of anakinra therapy: a single center experience

A. Shcherbina, G. Novichkova, E. Deordieva, 2022, Pediatric Hematology/Oncology and Immunopathology.

Rubella Virus-Associated Cutaneous Granulomatous Disease: a Unique Complication in Immune-Deficient Patients, Not Limited to DNA Repair Disorders

C. Bodemer, C. Klein, H. Ochs, 2019, Journal of Clinical Immunology.

A web-based collection of genotype-phenotype associations in hereditary recurrent fevers from the Eurofever registry

L. Bezrodnik, S. Ozen, A. Martini, 2017, Orphanet Journal of Rare Diseases.

AUTOINFLAMMATORY DISEASES

A. Shcherbina, V. Burlakov, A. Kozlova, 2019, Pediatria. Journal named after G.N. Speransky.

Chromosomal aberrations as the cause of a complex phenotype in children with primary immunodeficiencies

A. Shcherbina, E. Deordieva, A. Khoreva, 2021, Pediatric Hematology/Oncology and Immunopathology.

The risk of COVID-19 death is much greater and age dependent with type I IFN autoantibodies

P. Gregersen, J. Casanova, L. Rowen, 2022, Proceedings of the National Academy of Sciences of the United States of America.

The risk of COVID-19 death is much greater and age-dependent with type I IFN autoantibodies

Mark S. Anderson, J. Casanova, L. Rowen, 2022, Research square.

Evans syndrome in children: the results of a retrospective study of 54 patients

A. Shcherbina, I. Mersiyanova, M. Kurnikova, 2021, Pediatric Hematology/Oncology and Immunopathology.

Four novel ELANE mutations in patients with congenital neutropenia

D. Shagin, I. Shagina, A. Shcherbina, 2011, Pediatric blood & cancer.

Characterization of the clinical and immunological phenotype and management of 157 individuals with 56 distinct heterozygous NFKB1 mutations.

William J. Astle, Sri V. V. Deevi, Kenneth G. C. Smith, 2020, The Journal of allergy and clinical immunology.

Copy Number Analysis in a Large Cohort Suggestive of Inborn Errors of Immunity Indicates a Wide Spectrum of Relevant Chromosomal Losses and Gains

D. Steinemann, T. Illig, Anita Fernandez, 2022, Journal of Clinical Immunology.

Long‐term outcomes of 176 patients with X‐linked hyper‐IgM syndrome treated with or without hematopoietic cell transplantation

L. Notarangelo, J. Chou, C. Cunningham-Rundles, 2017, The Journal of allergy and clinical immunology.

Genomic characterization of lymphomas in patients with inborn errors of immunity

B. Sander, C. Cunningham-Rundles, Likun Du, 2022, Blood advances.

Patients with Primary Immunodeficiencies Are a Reservoir of Poliovirus and a Risk to Polio Eradication

J. Franco, Y. Lau, O. Sanal, 2017, Front. Immunol..

BCG vaccination in patients with severe combined immunodeficiency: complications, risks, and vaccination policies.

J. Franco, W. Al-Herz, T. Morio, 2014, The Journal of allergy and clinical immunology.

RAACI’s and NAEPID’s position paper: vaccination of patients with PID and HAE against COVID-19.

M. Khaitov, I. Kondratenko, A. Shcherbina, 2021, Russian Journal of Allergy.

Influence of clinical and immunophenotypic variants of severe combined immunodeficiency on severity and outcomes of opportunistic infections

A. Shcherbina, G. Novichkova, G. Solopova, 2021, Pediatric Hematology/Oncology and Immunopathology.

Development of flow cytometry assay for Wiskott–Aldrich syndrome diagnosis by WASP protein evaluation

A. Shcherbina, I. Mersiyanova, M. Fadeeva, 2020, Pediatric Hematology/Oncology and Immunopathology.

Principles of diagnosis and treatment of hereditary angioedema

A. Shcherbina, E. Viktorova, N. Kuzmenko, 2016 .

Non-infectious complications in the group of pediatric patients with chronic granulomatous disease

A. Shcherbina, G. Tereshchenko, E. Kulakovskaya, 2021, Pediatric Hematology/Oncology and Immunopathology.

From Your Nose to Your Toes: A Review of Severe Acute Respiratory Syndrome Coronavirus 2 Pandemic‒Associated Pernio

G. Pesole, J. Casanova, J. Fellay, 2021, The Journal of investigative dermatology.

Long-term persistent mixed chimerism in a patient with Wiskott–Aldrich syndrome after allogeneic hematopoietic stem cell transplantation

A. Shcherbina, D. Pershin, G. Tereshchenko, 2021, Pediatric Hematology/Oncology and Immunopathology.

HEMATOPOIETIC STEM CELL TRANSPLANTATION IN PATIENTS WITH PRIMARY IMMUNODEFICIENCY DERIVED FROM AN ALTERNATIVE DONOR BY USING NEW TRANSPLANT ENGINEERING TECHNOLOGIES

A. Shcherbina, M. Maschan, D. N. Balashov, 2020, Russian Journal of Immunology.

Mechanisms of increased mitochondria-dependent necrosis in Wiskott-Aldrich syndrome platelets

S. Gambaryan, F. Ataullakhanov, M. Panteleev, 2019, Haematologica.

A Conditioning Regimen with Plerixafor Is Safe and Improves the Outcome of TCRαβ+ and CD19+ Cell-Depleted Stem Cell Transplantation in Patients with Wiskott-Aldrich Syndrome.

S. Kozlovskaya, A. Shcherbina, M. Maschan, 2018, Biology of blood and marrow transplantation : journal of the American Society for Blood and Marrow Transplantation.

Treosulfan-Based Conditioning Regimen in Haematopoietic Stem Cell Transplantation with TCRαβ/CD19 Depletion in Nijmegen Breakage Syndrome.

A. Shcherbina, M. Maschan, D. Balashov, 2020, Journal of Clinical Immunology.

Disease Evolution and Response to Rapamycin in Activated Phosphoinositide 3-Kinase δ Syndrome: The European Society for Immunodeficiencies-Activated Phosphoinositide 3-Kinase δ Syndrome Registry

A. Fischer, C. Picard, P. Soler-Palacín, 2018, Front. Immunol..

Prospective Study of a Cohort of Russian Nijmegen Breakage Syndrome Patients Demonstrating Predictive Value of Low Kappa-Deleting Recombination Excision Circle (KREC) Numbers and Beneficial Effect of Hematopoietic Stem Cell Transplantation (HSCT)

Y. Rodina, A. Shcherbina, A. Maschan, 2017, Front. Immunol..

Nijmegen Breakage Syndrome: Clinical and Immunological Features, Long-Term Outcome and Treatment Options – a Retrospective Analysis

A. Gennery, K. Chrzanowska, M. Syczewska, 2015, Journal of Clinical Immunology.

DNA stability defects

A. Shcherbina, O. Porras, 2020 .

Granulomatous skin lesion as a manifestation of primary immunodeficiency in children

A. Shcherbina, O. S. Selezneva, 2021, Pediatric Hematology/Oncology and Immunopathology.

From Your Nose to Your Toes: A Review of Severe Acute Respiratory Syndrome Coronavirus 2 Pandemic‒Associated Pernio

G. Pesole, J. Casanova, J. Fellay, 2021, The Journal of investigative dermatology.

Initial presenting manifestations in 16,486 patients with Inborn Errors of Immunity include infections and non-infectious manifestations.

Nurit Assia Batzir, K. Schwarz, D. Foell, 2021, The Journal of allergy and clinical immunology.

Hematopoietic stem cell transplantation in patients with gain‐of‐function signal transducer and activator of transcription 1 mutations

T. Morio, H. Ochs, T. Torgerson, 2017, The Journal of allergy and clinical immunology.

Clinical features of Candidiasis in patients with inherited interleukin 12 receptor β1 deficiency.

J. Casanova, J. Franco, C. Picard, 2014, Clinical infectious diseases : an official publication of the Infectious Diseases Society of America.

Hematopoietic stem cell transplantation for CD40 ligand deficiency: Results from an EBMT/ESID-IEWP-SCETIDE-PIDTC study.

A. Fischer, A. Schulz, Joanne M. Smart, 2019, The Journal of allergy and clinical immunology.

Constrained chromatin accessibility in PU.1-mutated agammaglobulinemia patients

Ivan K. Chinn, J. Lupski, S. Grant, 2021, The Journal of experimental medicine.

CARMIL2 Deficiency Presenting as Very Early Onset Inflammatory Bowel Disease.

C. Klein, S. Snapper, Y. Rodina, 2019, Inflammatory bowel diseases.

Haematological complications of X-linked lymphoproliferative syndrome type 1 and 2

I. Kondratenko, A. Shcherbina, L. Shelikhova, 2020, Pediatric Hematology/Oncology and Immunopathology.

Cancer‐causing MAP2K1 mutation in a mosaic patient with cardio‐facio‐cutaneous syndrome and immunodeficiency

Y. Rodina, A. Shcherbina, I. Mersiyanova, 2022, Human Mutation.

Studying severe long COVID to understand post-infectious disorders beyond COVID-19

Mark S. Anderson, P. Gregersen, J. Casanova, 2022, Nature Medicine.

Autoantibodies neutralizing type I IFNs are present in ~4% of uninfected individuals over 70 years old and account for ~20% of COVID-19 deaths

Mark S. Anderson, P. Gregersen, R. Nussbaum, 2021, Science Immunology.

The efficacy and safety of romiplostim in the treatment of thrombocytopenia in pediatric patients with Wiskott–Aldrich syndrome: the results of a retrospective study

S. Larin, A. Shcherbina, G. Novichkova, 2021, Pediatric Hematology/Oncology and Immunopathology.

Efficacy of romiplostim in treatment of thrombocytopenia in children with Wiskott–Aldrich syndrome

Y. Rodina, S. Larin, A. Shcherbina, 2020, British journal of haematology.

Hereditary angioedema. Clinical guidelines. (D84.1)

L. Namazova-Baranova, A. Shcherbina, E. Vishneva, 2021, Russian Journal of Allergy.

Hereditary angioedema . Clinical guidelines ©

L. Namazova-Baranova, A. Shcherbina, E. Vishneva, 2021 .

Human genetic and immunological determinants of critical COVID-19 pneumonia

Mark S. Anderson, P. Gregersen, J. Casanova, 2022, Nature.

Y. Rodina, A. Shcherbina, M. Maschan, 2020, Journal of Clinical Immunology.

Healthy pediatric platelets are moderately hyporeactive in comparison with adults’ platelets

M. Panteleev, P. Zharkov, A. Shcherbina, 2021, Platelets.

Primary Immunodeficiencies in Russia: Data From the National Registry

T. B. Pavlova, E. M. Kamaltynova, A. V. Gorenkova, 2020, Frontiers in Immunology.

Chediak-Higashi Syndrome

Y. Rodina, A. Shcherbina, D. Balashov, 2016 .

Genetic, Immunological, and Clinical Features of 32 Patients with Autosomal Recessive STAT1 Deficiency

J. Casanova, R. Badolato, R. Fuleihan, 2021, The Journal of Immunology.

A global effort to dissect the human genetic basis of resistance to SARS-CoV-2 infection

J. Casanova, J. Fellay, S. Constantinescu, 2021, Nature Immunology.

Multicenter Experience of Hematopoietic Stem Cell Transplantation in WHIM Syndrome

A. Worth, D. McDermott, G. Kriván, 2021, Journal of clinical immunology.

Characteristics of a group of patients with WHIM syndrome

A. Shcherbina, G. Novichkova, T. Konyukhova, 2021, Pediatric Hematology/Oncology and Immunopathology.

Nicotinamide (vitamin B3) treatment improves response to G‐CSF in severe congenital neutropenia patients

K. Welte, A. Shcherbina, G. Novichkova, 2021, British journal of haematology.

A. Shcherbina, M. Maschan, A. Maschan, 2019, Blood.

Flow cytometry for pediatric platelets

M. Panteleev, P. Zharkov, A. Shcherbina, 2018, Platelets.

X-linked agammaglobulinemia: a review of literature and a case report

A. Shcherbina, E. Alekseeva, D. Pershin, 2023, Pediatric Hematology/Oncology and Immunopathology.

Lymphoma as a rare complication of severe combined immunodeficiency

A. Shcherbina, D. Balashov, D. Venyov, 2019, Pediatric Hematology/Oncology and Immunopathology.

Long-term outcome of LRBA deficiency in 76 patients after various treatment modalities as evaluated by the immune deficiency and dysregulation activity (IDDA) score.

A. Gennery, A. Worth, L. Hammarström, 2019, The Journal of allergy and clinical immunology.

Serious Hemorrhagic Complications After Successful Treatment of Hematopoietic Stem Cell Transplantation-Associated Thrombotic Microangiopathy With Defibrotide in Pediatric Patient With Myelodysplastic Syndrome

A. Shcherbina, I. Khamin, M. Aksenova, 2020, Frontiers in Pediatrics.

Analysis of familial cases of primary immunodeficiency in the context of genetic counseling

A. Shcherbina, D. Pershin, E. Raykina, 2021, Pediatric Hematology/Oncology and Immunopathology.

Second allogeneic hematopoietic stem cell transplantation in patients with inborn errors of immunity

Y. Skvortsova, A. Shcherbina, M. Maschan, 2022, Bone Marrow Transplantation.

An autoinflammatory disease – PFAPA syndrome: a single-center experience

N. S. Grachev, A. Shcherbina, G. Novichkova, 2022, Pediatric Hematology/Oncology and Immunopathology.

HSCT is effective in patients with PSTPIP1-associated myeloid-related proteinemia inflammatory (PAMI) syndrome.

A. Gennery, R. Skinner, A. Shcherbina, 2020, The Journal of allergy and clinical immunology.

Hematopoietic stem cell transplantation in a patient with type 1 mosaic variegated aneuploidy syndrome

A. Shcherbina, G. Novichkova, O. Soldatkina, 2019, Orphanet Journal of Rare Diseases.

Federal clinical guidelines. Primary immunodeficiency: severe combined immunodeficiency

Y. Rodina, A. Shcherbina, D. Balashov, 2020 .

Experience gained in the treatment of patients with hyper-IgD syndrome (mevalonate kinase deficiency)

A. Shcherbina, G. Novichkova, A. Kozlova, 2016 .

Long-term efficacy and safety of canakinumab in patients with mevalonate kinase deficiency: results from the randomised Phase 3 CLUSTER trial.

A. Martini, B. Bader-Meunier, T. Constantin, 2021, Rheumatology.

Combination of homozygotic mutation CORO1A and verruciform epidermodysplasia in a 13-year old female patient

D. N. Serov, A. Shcherbina, A. Pampura, 2023, Klinicheskaya dermatologiya i venerologiya.

Clericusio syndrome (poikiloderm with neutropenia)

A. Shcherbina, A. Pavlova, A. I. Mandzhieva, 2019, Pediatric Hematology/Oncology and Immunopathology.

Human inherited complete STAT2 deficiency underlies inflammatory viral diseases

J. Casanova, A. Bousfiha, Shen-Ying Zhang, 2023, The Journal of clinical investigation.

Newborn screening for primary immunodeficiencies as a way to detect syndromal disorders in neonates: a clinical case of 22q11.2DS syndrome

R. Zinchenko, A. Marakhonov, A. Shcherbina, 2022, Pediatric Hematology/Oncology and Immunopathology.

From Your Nose to Your Toes: A Review of Severe Acute Respiratory Syndrome Coronavirus 2 Pandemic‒Associated Pernio

G. Pesole, J. Casanova, J. Fellay, 2021, The Journal of investigative dermatology.

THU0587 Clinical Characterization of Castleman's Disease in A Group of Pediatric Patients

A. Shcherbina, A. Maschan, A. Shcherbina, 2016 .

Fermented Milk Consumption and Common Infections in Children Attending Day-Care Centers: A Randomized Trial

A. Shcherbina, J. Schrezenmeir, A. Gorelov, 2016, Journal of pediatric gastroenterology and nutrition.

A randomized, placebo-controlled phase 3 trial of the PI3Kδ inhibitor leniolisib for activated PI3Kδ syndrome

V. Lougaris, A. Plebani, A. Šedivá, 2022, Blood.

The coincidence of two rare diseases with opposite metabolic phenotype: a child with congenital hyperinsulinism and Bloom syndrome

L. Mitrofanova, I. Nikitina, A. Shcherbina, 2021, Journal of pediatric endocrinology & metabolism : JPEM.

Complex Multisystem Phenotype With Immunodeficiency Associated With NBAS Mutations: Reports of Three Patients and Review of the Literature

E. Pomerantseva, F. Konovalov, I. Povolotskaya, 2020, Frontiers in Pediatrics.

Nijmegen Breakage Syndrome: Clinical and Immunological Features, Long-Term Outcome and Treatment Options – a Retrospective Analysis

A. Gennery, K. Chrzanowska, M. Syczewska, 2015, Journal of Clinical Immunology.

Accelerated death of megakaryocytes from Wiskott–Aldrich syndrome patients

F. Ataullakhanov, M. Panteleev, O. Fedyanina, 2023, British journal of haematology.

Verification of X-linked lymphoproliferative syndrome type 1 and 2 using a flow cytometry method

A. Shcherbina, M. Fadeeva, M. Maschan, 2020, Pediatric Hematology/Oncology and Immunopathology.

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

A. Shcherbina, M. Fadeeva, D. Pershin, 2024, Rossiyskiy Vestnik Perinatologii i Pediatrii (Russian Bulletin of Perinatology and Pediatrics).

Neutropenia in pediatric hematology/oncology practice

A. Shcherbina, E. Deordieva, 2015 .