Search Results - "severe combined immunodeficiency"

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  1. 41
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    Follow-Up for an Abnormal Newborn Screen for Severe Combined Immunodeficiencies (NBS SCID): A Clinical Immunology Society (CIS) Survey of Current Practices by Vijaya Knight, Jennifer R. Heimall, Nicola Wright, Cullen M. Dutmer, Thomas G. Boyce, Troy R. Torgerson, Roshini S. Abraham

    Published 2020
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  2. 42
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    Cytokine release syndrome with immune reconstitution inflammatory syndrome post haploidentical hematopoietic stem cell transplantation in a child with severe combined immunodeficiency and disseminated BCG infection by Sunisha Arora, Neha Rastogi, K. Upasana, Anjali Yadav, Dhwanee Thakkar, Yadav Satya Prakash

    Published 2022
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  3. 43
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    A novel 268 kb deletion combined with a splicing variant in IL7R causes of severe combined immunodeficiency in a Chinese family: a case report by Lulu Yan, Yan He, Yuxin Zhang, Yingwen Liu, Limin Xu, Chunxiao Han, Yudan Zhao, Haibo Li

    Published 2023
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  4. 44
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    Primary Immunodeficiencies: Pathogenetic Advances, Diagnostic and Management Challenges

    Published 2023
    Subjects: “…severe combined immunodeficiency…”
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  5. 45
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    Flow Cytometry Confirmation Post Newborn Screening for SCID in England by Kimberly C. Gilmour

    Published 2021
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  6. 46
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    Establishing Newborn Screening for SCID in the USA: Experience in California by Jennifer M. Puck, Andrew R. Gennery

    Published 2021
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  7. 47
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    T-cell receptor and K-deleting recombination excision circles in newborn screening of T- and B-cell defects: review of the literature and future challenges by Marco Chiarini, Cinzia Zanotti, Federico Serana, Alessandra Sottini, Diego Bertoli, Luigi Caimi, Luisa Imberti

    Published 2013
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  8. 48
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    Early Diagnosis and Treatment of Purine Nucleoside Phosphorylase (PNP) Deficiency through TREC-Based Newborn Screening by Andrea Martín-Nalda, Jacques G. Rivière, Mireia Català-Besa, Marina García-Prat, Alba Parra-Martínez, Mónica Martínez-Gallo, Roger Colobran, Ana Argudo-Ramírez, Jose Luis Marín-Soria, Judit García-Villoria, Laura Alonso, Jose Antonio Arranz-Amo, Giancarlo la Marca, Pere Soler-Palacín

    Published 2021
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  9. 49
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    Case Report: Massive Intestinal Pneumatosis and Pneumoretroperitoneum Following Hematopoietic Stem Cell Transplantation in a 2-Year-Old Child by Giorgia Contini, Arianna Bertocchini, Roberto Carta, Pietro Merli, Alessandro Inserra, Pietro Bagolan, Francesco Morini

    Published 2021
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  10. 50
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    Novel IL2RG Gene Mutation in One of Dizygotic Twins Causing Profound Changes of Receptor Structure by Magdalena Rutkowska-Zapała, Anna Szaflarska, Anna Kluczewska, Julia Ciȩciwa, Jacek Plewka, Anna Michalska, Maciej Siedlar

    Published 2022
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  11. 51
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    Newborn Screening Today and Tomorrow: A Brief Report from the International Primary Immunodeficiencies Congress by Leire Solis, Samya Van Coillie, James R. Bonham, Fabian Hauck, Lennart Hammarström, Frank J. T. Staal, Bruce Lim, Martine Pergent, Johan Prévot

    Published 2024
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  12. 52
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    Future Perspectives of Newborn Screening for Inborn Errors of Immunity by Maartje Blom, Robbert G. M. Bredius, Mirjam van der Burg

    Published 2021
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  13. 53
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    T-Cell Lymphopenia Detected by Newborn Screening in Two Siblings with an Xq13.1 Duplication by Xavier Rios, Ivan K. Chinn, Jordan S. Orange, Celine I. Hanson, Nicholas L. Rider

    Published 2017
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  14. 54
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    A case report of Omenn syndrome in siblings by Agnieszka Berendt, Monika Wójtowicz-Marzec, Monika Dobrowolska, Anna Kwaśniewska

    Published 2019
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  15. 55
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    An immunocompetent patient with a nonsense mutation in NHEJ1 gene by Hossein Esmaeilzadeh, Mohammad Reza Bordbar, Zahra Hojaji, Parham Habibzadeh, Dorna Afshinfar, Mohammad Miryounesi, Majid Fardaei, Mohammad Ali Faghihi

    Published 2019
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  16. 56
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    A case report of Omenn syndrome in siblings by Agnieszka Berendt, Monika Wójtowicz-Marzec, Monika Dobrowolska, Anna Kwaśniewska

    Published 2019
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  17. 57
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    Clinical Features and Management of Cartilage-Hair Hypoplasia: A Narrative Review by Kobra Shiasi Arani

    Published 2015
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  18. 58
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    Clinical Features and Management of Cartilage-Hair Hypoplasia: A Narrative Review by Kobra Shiasi Arani

    Published 2015
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  19. 59
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    Newborn Screening for SCID: Experience in Spain (Catalonia) by Ana Argudo-Ramírez, Andrea Martín-Nalda, Jose Manuel González de Aledo-Castillo, Rosa López-Galera, Jose Luis Marín-Soria, Sonia Pajares-García, Mónica Martínez-Gallo, Marina García-Prat, Roger Colobran, Jacques G. Riviere, Yania Quintero, Tatiana Collado, Antonia Ribes, Judit García-Villoria, Pere Soler-Palacín

    Published 2021
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  20. 60
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    Newborn Screening for Primary Immune Deficiencies with a TREC/KREC/ACTB Triplex Assay-A Three-Year Pilot Study in Sweden by Rolf H. Zetterström, Michela Barbaro, Annika Ohlsson, Stephan Borte, Susanne Jonsson, Jacek Winiarski, Ulrika von Döbeln, Lennart Hammarström

    Published 2017
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