Loss of DIAPH1 causes SCBMS, combined immunodeficiency, and mitochondrial dysfunction

Meri Kaustio, Naemeh Nayebzadeh, Reetta Hinttala, Terhi Tapiainen, Pirjo Astrom, Katariina Mamia, Nora Pernaa, Johanna Lehtonen, Virpi Glumoff, Elisa Rahikkala, Minna Honkila, Paivi Olsen, Antti Hassinen, Minttu Polso, Nashat Al Sukaiti, Jalila Al Shekaili, Mahmood Al Kindi, Nadia Al Hashmi, Henrikki Almusa, Daria BulanovaEmma Haapaniemi, Pu Chen, Maria Suo-Palosaari, Paivi Vieira, Hannu Tuominen, Hannaleena Kokkonen, Nabil Al Macki, Huda Al Habsi, Tuija Löppönen, Heikki Rantala, Vilja Pietiäinen, Shen-Ying Zhang, Marjo Renko, Timo Hautala, Tariq Al Farsi, Johanna Uusimaa, Janna Saarela

Research output: Contribution to journalArticleScientificpeer-review

Original languageEnglish
JournalJournal of Allergy and Clinical Immunology
Volume148
Issue number2
Pages (from-to)599-611
Number of pages13
ISSN0091-6749
DOIs
Publication statusPublished - Aug 2021
MoE publication typeA1 Journal article-refereed

Fields of Science

  • 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

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