@article{be1e4fd758de4ea3a8b5a6dd7c6bad47,
title = "Loss of DIAPH1 causes SCBMS, combined immunodeficiency, and mitochondrial dysfunction",
keywords = "DIAPH1, SCBMS, microcephaly, mitochondrial dysfunction, T cells, immunodeficiency, T-CELL-ACTIVATION, FORMIN, MDIA1, POLARIZATION, MUTATIONS, MIGRATION, HOMOLOG, PROTEIN, ROCK, RHOA, 1182 Biochemistry, cell and molecular biology",
author = "Meri Kaustio and Naemeh Nayebzadeh and Reetta Hinttala and Terhi Tapiainen and Pirjo Astrom and Katariina Mamia and Nora Pernaa and Johanna Lehtonen and Virpi Glumoff and Elisa Rahikkala and Minna Honkila and Paivi Olsen and Antti Hassinen and Minttu Polso and {Al Sukaiti}, Nashat and {Al Shekaili}, Jalila and {Al Kindi}, Mahmood and {Al Hashmi}, Nadia and Henrikki Almusa and Daria Bulanova and Emma Haapaniemi and Pu Chen and Maria Suo-Palosaari and Paivi Vieira and Hannu Tuominen and Hannaleena Kokkonen and {Al Macki}, Nabil and {Al Habsi}, Huda and Tuija L{\"o}pp{\"o}nen and Heikki Rantala and Vilja Pieti{\"a}inen and Shen-Ying Zhang and Marjo Renko and Timo Hautala and {Al Farsi}, Tariq and Johanna Uusimaa and Janna Saarela",
year = "2021",
month = aug,
doi = "10.1016/j.jaci.2020.12.656",
language = "English",
volume = "148",
pages = "599--611",
journal = "Journal of Allergy and Clinical Immunology",
issn = "0091-6749",
publisher = "Mosby Elsevier",
number = "2",
}