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  1. Article ; Online: Newborn Screening for Severe T and B Cell Lymphopenia Using TREC/KREC Detection: A Large-Scale Pilot Study of 202,908 Newborns.

    Marakhonov, Andrey V / Efimova, Irina Yu / Mukhina, Anna A / Zinchenko, Rena A / Balinova, Natalya V / Rodina, Yulia / Pershin, Dmitry / Ryzhkova, Oxana P / Orlova, Anna A / Zabnenkova, Viktoriia V / Cherevatova, Tatiana B / Beskorovainaya, Tatiana S / Shchagina, Olga A / Polyakov, Alexander V / Markova, Zhanna G / Minzhenkova, Marina E / Shilova, Nadezhda V / Larin, Sergey S / Khadzhieva, Maryam B /
    Dudina, Ekaterina S / Kalinina, Ekaterina V / Mudaeva, Dzhaina A / Saydaeva, Djamila H / Matulevich, Svetlana A / Belyashova, Elena Yu / Yakubovskiy, Grigoriy I / Tebieva, Inna S / Gabisova, Yulia V / Irinina, Nataliya A / Nurgalieva, Liya R / Saifullina, Elena V / Belyaeva, Tatiana I / Romanova, Olga S / Voronin, Sergey V / Shcherbina, Anna / Kutsev, Sergey I

    Journal of clinical immunology

    2024  Volume 44, Issue 4, Page(s) 93

    Abstract: Newborn screening (NBS) for severe inborn errors of immunity (IEI), affecting T lymphocytes, and implementing measurements of T cell receptor excision circles (TREC) has been shown to be effective in early diagnosis and improved prognosis of patients ... ...

    Abstract Newborn screening (NBS) for severe inborn errors of immunity (IEI), affecting T lymphocytes, and implementing measurements of T cell receptor excision circles (TREC) has been shown to be effective in early diagnosis and improved prognosis of patients with these genetic disorders. Few studies conducted on smaller groups of newborns report results of NBS that also include measurement of kappa-deleting recombination excision circles (KREC) for IEI affecting B lymphocytes. A pilot NBS study utilizing TREC/KREC detection was conducted on 202,908 infants born in 8 regions of Russia over a 14-month period. One hundred thirty-four newborns (0.66‰) were NBS positive after the first test and subsequent retest, 41% of whom were born preterm. After lymphocyte subsets were assessed via flow cytometry, samples of 18 infants (0.09‰) were sent for whole exome sequencing. Confirmed genetic defects were consistent with autosomal recessive agammaglobulinemia in 1/18, severe combined immunodeficiency - in 7/18, 22q11.2DS syndrome - in 4/18, combined immunodeficiency - in 1/18 and trisomy 21 syndrome - in 1/18. Two patients in whom no genetic defect was found met criteria of (severe) combined immunodeficiency with syndromic features. Three patients appeared to have transient lymphopenia. Our findings demonstrate the value of implementing combined TREC/KREC NBS screening and inform the development of policies and guidelines for its integration into routine newborn screening programs.
    MeSH term(s) Infant ; Infant, Newborn ; Humans ; Neonatal Screening/methods ; Pilot Projects ; Lymphopenia/diagnosis ; T-Lymphocytes ; Severe Combined Immunodeficiency/diagnosis ; Severe Combined Immunodeficiency/genetics ; DNA ; Receptors, Antigen, T-Cell/genetics
    Chemical Substances DNA (9007-49-2) ; Receptors, Antigen, T-Cell
    Language English
    Publishing date 2024-04-05
    Publishing country Netherlands
    Document type Journal Article
    ZDB-ID 779361-3
    ISSN 1573-2592 ; 0271-9142
    ISSN (online) 1573-2592
    ISSN 0271-9142
    DOI 10.1007/s10875-024-01691-z
    Database MEDical Literature Analysis and Retrieval System OnLINE

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    In stock of ZB MED Cologne/Königswinter

    Zs.A 1640: Show issues Location:
    Je nach Verfügbarkeit (siehe Angabe bei Bestand)
    bis Jg. 1994: Bestellungen von Artikeln über das Online-Bestellformular
    Jg. 1995 - 2021: Lesesall (1.OG)
    ab Jg. 2022: Lesesaal (EG)

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  2. Article ; Online: Update of the GJB2/DFNB1 mutation spectrum in Russia: a founder Ingush mutation del(GJB2-D13S175) is the most frequent among other large deletions.

    Bliznetz, Elena A / Lalayants, Maria R / Markova, Tatiana G / Balanovsky, Oleg P / Balanovska, Elena V / Skhalyakho, Roza A / Pocheshkhova, Elvira A / Nikitina, Natalya V / Voronin, Sergey V / Kudryashova, Elena K / Glotov, Oleg S / Polyakov, Alexander V

    Journal of human genetics

    2017  Volume 62, Issue 8, Page(s) 789–795

    Abstract: Although mutations in the GJB2 gene sequence make up the majority of variants causing autosomal-recessive non-syndromic hearing loss, few large deletions have been shown to contribute to DFNB1 deafness. Currently, genetic testing for DFNB1 hearing loss ... ...

    Abstract Although mutations in the GJB2 gene sequence make up the majority of variants causing autosomal-recessive non-syndromic hearing loss, few large deletions have been shown to contribute to DFNB1 deafness. Currently, genetic testing for DFNB1 hearing loss includes GJB2 sequencing and DFNB1 deletion analysis for two common large deletions, del(GJB6-D13S1830) and del(GJB6-D13S1854). Here, we report frequency in Russia, clinical significance and evolutionary origins of a 101 kb deletion, del(GJB2-D13S175), recently identified by us. In multiethnic cohort of 1104 unrelated hearing loss patients with biallelic mutations at the DFNB1 locus, the del(GJB2-D13S175) allele frequency of up to 0.5% (11/2208) was determined and this allele was shown to be predominantly associated with profound sensorineural hearing loss. Additionally, eight previously unpublished GJB2 mutations were described in this study. All patients carrying del(GJB2-D13S175) were of the Ingush ancestry. Among normal hearing individuals, del(GJB2-D13S175) was observed in Russian Republic of Ingushetia with a carrier rate of ~1% (2/241). Analysis of haplotypes associated with the deletion revealed a common founder in the Ingushes, with age of the deletion being ~3000 years old. Since del(GJB2-D13S175) was missed by standard methods of GJB2 analysis, del(GJB2-D13S175) detection has been added to our routine testing strategy for DFNB1 hearing loss.
    MeSH term(s) Child ; Child, Preschool ; Cohort Studies ; Connexin 26 ; Connexins/genetics ; Female ; Founder Effect ; Gene Frequency ; Genetic Testing ; Genotype ; Hearing Loss/epidemiology ; Hearing Loss/genetics ; Humans ; Male ; Mutation ; Russia/epidemiology ; Sequence Deletion
    Chemical Substances Connexins ; GJB2 protein, human ; Connexin 26 (127120-53-0)
    Language English
    Publishing date 2017-04-13
    Publishing country England
    Document type Journal Article
    ZDB-ID 1425192-9
    ISSN 1435-232X ; 1434-5161
    ISSN (online) 1435-232X
    ISSN 1434-5161
    DOI 10.1038/jhg.2017.42
    Database MEDical Literature Analysis and Retrieval System OnLINE

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    In stock of ZB MED Cologne/Königswinter

    Zs.A 201: Show issues Location:
    Je nach Verfügbarkeit (siehe Angabe bei Bestand)
    bis Jg. 1994: Bestellungen von Artikeln über das Online-Bestellformular
    Jg. 1995 - 2021: Lesesall (1.OG)
    ab Jg. 2022: Lesesaal (EG)

    Order via subito

    This service is chargeable due to the Delivery terms set by subito. Orders including an article and supplementary material will be classified as separate orders. In these cases, fees will be demanded for each order.

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