Retrospective Diagnosis of Primary Immunodeficiencies for Children in Sverdlovsk Region

Степановна, Дерябина Светлана; Tuzankina, Irina A.; Vlasova, E. V.; Лаврина, С Г; Shershnev, V N

doi:10.15789/1563-0625-2016-6-583-588

Cited by 5 publications

(1 citation statement)

References 8 publications

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“…В описываемом нами случае патогенный вариант гена TNFRSF13B выявили у пациента во взрослом возрасте, что является неблагоприятным фактором при таком диагнозе. При обнаружении данного дефекта иммунной системы, на основании клинических рекомендаций, принятых в России и за рубежом [17][18][19][20], рекомендуется проведение заместительной внутривенной терапии нормальными Ig человека в режиме насыщения (обычно 0,4-0,6 г/кг) до достижения целевого претрансфузионного уровня (уровень IgG не ниже 6-8 г/л) с дальнейшим переходом на поддерживающую терапию внутривенными Ig. Дозировка поддерживающей терапии рассчитывается индивидуально для каждого пациента, исходя из наличия сопутствующих патологий, инфекционных процессов и метаболических особенностей.…”

Section: Discussionunclassified

TNFRSF13B gene mutation in adult patient with common variable immunodeficiency. Case report

Sviridov

Bodunova

Данишевич

et al. 2021

Terapevticheskii arkhiv

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Common variable immunodeficiency (CVID) is one form of the primary immunodeficiencies (PIDs). CVID is characterized by variable clinical manifestations. Genetic alteration is a cause of the disease in many cases. In the current paper we described Patient N of 45 years old, who have been suffering from frequent various infections and therefore attended an immunologist and clinical geneticist. Immunoglobulins (Ig) A, M, and G deficiency was found in the patient. As a result of medical genetic counselling primary immunodeficiency has been suggested as a diagnosis. Further molecular genetic testing using clinical exome sequencing (Next Generation Sequencing method) revealed a likely-pathogenic variant c.204dupA (p.Leu69ThrfsX12, rs72553875) of TNFRSF13B gene in the patient. The gene variant was found in homozygous state. According to the international medical literature and genomic databases TNFRSF13B gene mutations lead to the CVID development and in some patients are characterized by isolated IgA deficiency and in the other group of patients can lead to decrease of IgA, IgM, and IgG. The patient had a family history of cancer and autoimmune inflammatory bowel disease (erosive-ulcerative enterocolitis). Moreover, one sibling of the patient died at the age of 3 weeks from complications of toxoplasmosis infection. The other sibling of 51 years old have been also suffering from recurrent infectious diseases. Thus, the genetic cause of the disease was identified in the proband. It has been shown that homozygosity for variant c.204dupA of TNFRSF13B gene is characterized by the deficiency of all three classes of Ig. Medical genetic counselling and modern molecular genetic methods application is an important step in management of people with signs of immunodeficiency. Such approach helps to make a diagnosis to the patient, to find an exact molecular reason of the condition, to use effective treatment, and to perform preventive measures in patient`s family.

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Section: Discussionunclassified

TNFRSF13B gene mutation in adult patient with common variable immunodeficiency. Case report

Sviridov

Bodunova

Данишевич

et al. 2021

Terapevticheskii arkhiv

View full text Add to dashboard Cite

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Therapeutic monoclonal antibodies approved by FDA in 2017

Cai¹

2018

MOJI

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Newborn Screening through TREC, TREC/KREC System for Primary Immunodeficiency with limitation of TREC/KREC. Comprehensive Review

Shinwari

Bolkov

Tuzankina

et al. 2021

AIAAMC

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Introduction: Newborn screening (NBS) by quantifying T cell receptor excision circles (TRECs) and Kappa re-ceptor excision circles in neonatal dried blood spots (DBS) enables early diagnosis of different types of primary immune deficiencies. Global newborn screening for PID, using an assay to detect T-cell receptor excision circles (TREC) in dried blood spots (DBS), is now being performed in all states in the United States. In this review, we discuss the development and outcomes of TREC, TREC/KREC combines screening, and continued challenges to implementation. Objective: To review the diagnostic performance of published articles for TREC and TREC/ KREC based NBS for PID and its different types. Methods: Different research resources were used to get an approach for the published data of TREС and KREC based NBS for PID like PubMed, Scopus, Google Scholar, Research gate EMBASE. We extracted TREC and KREC screening Publisher with years of publication, content and cut-off values, and a number of retests, repeat DBS, and referrals from the different published pilot, pilot cohort, Case series, and cohort studies. Results: We included the results of TREC, combine TREC/KREC system based NBS screening from different research articles,and divided these results between the Pilot studies, case series, and cohort. For each of these studies, different parameter data are excluded from different articles. Thirteen studies were included, re-confirming 89 known SCID cases in case series and reporting 53 new SCID cases in 3.15 million newborns. Individual TREC contents in all SCID patients were <25 TRECs/μl (except in those evaluated with the New York State assay). Conclusion: TREC and KREC sensitivity for typical SCID and other types of PID was100 %. It shows its importance and anticipating the significance of implementation in different undeveloped and developed countries in the NBS program in upcoming years. Data adapting the screening algorithm for pre-term/ill infants reduce the amount of false-positive test re-sults.

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Retrospective Diagnosis of Primary Immunodeficiencies for Children in Sverdlovsk Region

Cited by 5 publications

References 8 publications

TNFRSF13B gene mutation in adult patient with common variable immunodeficiency. Case report

TNFRSF13B gene mutation in adult patient with common variable immunodeficiency. Case report

Therapeutic monoclonal antibodies approved by FDA in 2017

Newborn Screening through TREC, TREC/KREC System for Primary Immunodeficiency with limitation of TREC/KREC. Comprehensive Review

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