Elena V. Raykina

1, Samory Mashela Str
Moscow, MOW 117997, Russian Federation

Last Updated: 09/26/2026

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Found 26 publications

An Endemic Region of Thiamine-Responsive Megaloblastic Anemia Caused by an SLC19A2 c.1223+1G>A Founder Mutation.

An Endemic Region of Thiamine-Responsive Megaloblastic Anemia Caused by an SLC19A2 c.1223+1G>A Founder Mutation.

Journal: International journal of molecular sciences

Published: April 30, 2026

Diagnostic workflow for X-linked agammaglobulinemia integrating BTK expression and B-cell maturation analysis by flow cytometry.

Diagnostic workflow for X-linked agammaglobulinemia integrating BTK expression and B-cell maturation analysis by flow cytometry.

Journal: Cytometry. Part B, Clinical cytometry

Published: February 26, 2026

Clinical experience with emapalumab treatment in a group of children with primary hemophagocytic lymphohistiocytosis.

Clinical experience with emapalumab treatment in a group of children with primary hemophagocytic lymphohistiocytosis.

Journal: Journal of human immunity

Published: June 21, 2025

Different Diagnoses, Common Ancestry: 22q11.2 Deletion Syndrome and Wiskott-Aldrich Syndrome in the Same Family.

Different Diagnoses, Common Ancestry: 22q11.2 Deletion Syndrome and Wiskott-Aldrich Syndrome in the Same Family.

Journal: Molecular syndromology

Published: June 05, 2025

A new approach to personalized assessment of functional platelet disorders in children with inherited thrombocytopenias by flow cytometry.

A new approach to personalized assessment of functional platelet disorders in children with inherited thrombocytopenias by flow cytometry.

Journal: Blood coagulation & fibrinolysis : an international journal in haemostasis and thrombosis

Published: January 16, 2025

Novel LYST Variants Lead to Aberrant Splicing in a Patient with Chediak-Higashi Syndrome.

Novel LYST Variants Lead to Aberrant Splicing in a Patient with Chediak-Higashi Syndrome.

Journal: Genes

Published: December 03, 2024

Case report: JAK inhibitor treatment of immune dysregulation symptoms in a patient with PTPN2 deficiency.

Case report: JAK inhibitor treatment of immune dysregulation symptoms in a patient with PTPN2 deficiency.

Journal: Frontiers in immunology

Published: November 05, 2024

Genetic Characteristics of a Large Pediatric Cohort of Patients with Inborn Errors of Immunity: Single-Center Experience.

Genetic Characteristics of a Large Pediatric Cohort of Patients with Inborn Errors of Immunity: Single-Center Experience.

Journal: Journal of clinical immunology

Published: February 25, 2024

Characterization of a Novel Pathogenic PLCG2 Variant Leading to APLAID Syndrome Responsive to a TNF Inhibitor.

Characterization of a Novel Pathogenic PLCG2 Variant Leading to APLAID Syndrome Responsive to a TNF Inhibitor.

Journal: Arthritis & rheumatology (Hoboken, N.J.)

Published: January 05, 2024

Unusual Presentation of SET::NUP214-Associated Concomitant Hematological Neoplasm in a Child-Diagnostic and Treatment Struggle.

Unusual Presentation of SET::NUP214-Associated Concomitant Hematological Neoplasm in a Child-Diagnostic and Treatment Struggle.

Journal: International journal of molecular sciences

Published: August 12, 2023

Clinical and functional spectrum of RAC2-related immunodeficiency.

Clinical and functional spectrum of RAC2-related immunodeficiency.

Journal: Blood

Published: August 07, 2023

Novel SLFN14 mutation associated with macrothrombocytopenia in a patient with severe haemorrhagic syndrome.

Novel SLFN14 mutation associated with macrothrombocytopenia in a patient with severe haemorrhagic syndrome.

Journal: Orphanet journal of rare diseases

Published: December 29, 2022

Showing 1-12 of 26

Last Updated: 09/26/2026