Chou, Janet S.; Alazami, Anas M.; Jaber, Faris; Hoyos-Bachiloglu, Rodrigo; Jones, Jennifer; Weeks, Sabrina; Alosaimi, Mohammed F.; Bainter, Wayne; Cangemi, Brittney; Badran, Yousef R.; Mohammed, Reem Walid; Alroqi, Fayhan J.; Almutairi, Abduarahman; Al-Onazi, Noufa; AlAjaji, Sulaiman; Al-Saud, Bandar K.; Arnaout, Rand Khaled H.; Elkins, Megan; Devana, Sridevi; Imperial, Juliet; Li, Betty; Drexhage, Linnea Z.; Abdel Rahman, Anas M.; Jacob, Minnie; Haddad, Hadi; Hanna-Wakim, Rima H.; Dbaibo, Ghassan S.; Massaad, Michel J.; Dasouki, Majed Jamil; Mikhael, Raymond; Baz, Zeina; Geha, Raif S.; Al-Mousa, Hamoud A.
(Mosby Inc., 2020)
Background: The gene AK2 encodes the phosphotransferase adenylate kinase 2 (AK2). Human variants in AK2 cause reticular dysgenesis, a severe combined immunodeficiency with agranulocytosis, lymphopenia, and sensorineural ...