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Abstract Telomere biology disorders (TBDs) are characterized by bone marrow failure (BMF) and dysfunctional telomeres. So far, inherited mutations in 18 genes have been identified in TBDs. Here, we describe a child presenting with early BMF, immunodeficiency, and severely short and defective telomeres, carrying a homozygous splicing mutation (c.409-2 A > G; p.Q136_K138del) in RPA2 – a known replication factor and telomerase accessory factor.
Disruption of Thrombocyte and T Lymphocyte Development by a Mutation in ARPC1B Raz Somech, Atar Lev, Yu Nee Lee, Amos J. Simon, Ortal Barel, Ginette Schiby, Camila Avivi, Iris Barshack, Michele Rhodes, Jiejing Yin, Minshi Wang, Yibin Yang, Jennifer Rhodes, Nufar Marcus, Ben-Zion Garty, Jerry Stein, Ninette Amariglio, Gideon Rechavi, David L. Wiest and Yong Zhang J Immunol December 15, 2017, 199 (12) 4036-4045; DOI: https://doi.org/10.4049/jimmunol.1700460
Disruption of Thrombocyte and T Lymphocyte Development by a Mutation in ARPC1B Raz Somech, Atar Lev, Yu Nee Lee, Amos J. Simon, Ortal Barel, Ginette Schiby, Camila Avivi, Iris Barshack, Michele Rhodes, Jiejing Yin, Minshi Wang, Yibin Yang, Jennifer Rhodes, Nufar Marcus, Ben-Zion Garty, Jerry Stein, Ninette Amariglio, Gideon Rechavi, David L. Wiest and Yong Zhang J Immunol November 10, 2017, ji1700460; DOI: https://doi.org/10.4049/jimmunol.1700460
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