Primary immunodeficiency disorders

Primary immunodeficiency disorders are a set of syndromes that arise from defects in the immune system. Most are diagnosed in young children, and patients are generally characterized by increased susceptibility to infections.

Latest Research and Reviews

  • Research
    | Open Access

    FCH domain only 1 (FCHO1) is a key molecule involved in clathrin-mediated endocytosis (CME). Here, the authors report homozygous FCHO1 mutations in individuals with variable T and B cell lymphopenia, which are associated with loss-of-function of FCHO1 and impaired formation of clathrin-coated pits in T cells.

    • Marcin Łyszkiewicz
    • , Natalia Ziętara
    • , Laura Frey
    • , Ulrich Pannicke
    • , Marcel Stern
    • , Yanshan Liu
    • , Yanxin Fan
    • , Jacek Puchałka
    • , Sebastian Hollizeck
    • , Ido Somekh
    • , Meino Rohlfs
    • , Tuğba Yilmaz
    • , Ekrem Ünal
    • , Musa Karakukcu
    • , Türkan Patiroğlu
    • , Christina Kellerer
    • , Ebru Karasu
    • , Karl-Walter Sykora
    • , Atar Lev
    • , Amos Simon
    • , Raz Somech
    • , Joachim Roesler
    • , Manfred Hoenig
    • , Oliver T. Keppler
    • , Klaus Schwarz
    •  & Christoph Klein
  • Research |

    Initial results from phase I/II lentiviral gene therapy trials provide early evidence supporting its safety and efficacy in treating patients with X-linked chronic granulomatous disease.

    • Donald B. Kohn
    • , Claire Booth
    • , Elizabeth M. Kang
    • , Sung-Yun Pai
    • , Kit L. Shaw
    • , Giorgia Santilli
    • , Myriam Armant
    • , Karen F. Buckland
    • , Uimook Choi
    • , Suk See De Ravin
    • , Morna J. Dorsey
    • , Caroline Y. Kuo
    • , Diego Leon-Rico
    • , Christine Rivat
    • , Natalia Izotova
    • , Kimberly Gilmour
    • , Katie Snell
    • , Jinhua Xu-Bayford Dip
    • , Jinan Darwish
    • , Emma C. Morris
    • , Dayna Terrazas
    • , Leo D. Wang
    • , Christopher A. Bauser
    • , Tobias Paprotka
    • , Douglas B. Kuhns
    • , John Gregg
    • , Hayley E. Raymond
    • , John K. Everett
    • , Geraldine Honnet
    • , Luca Biasco
    • , Peter E. Newburger
    • , Frederic D. Bushman
    • , Manuel Grez
    • , H. Bobby Gaspar
    • , David A. Williams
    • , Harry L. Malech
    • , Anne Galy
    • , Adrian J. Thrasher
    • , Karen F. Buckland
    • , Christopher A. Bauser
    • , Geraldine Honnet
    • , Manuel Grez
    • , H. Bobby Gaspar
    • , Anne Galy
    •  & Adrian J. Thrasher
    Nature Medicine 26, 200-206
  • Research
    | Open Access

    Roquin-1 is a posttranscriptional regulator that controls the expression of many immune-related genes such as ICOS and TNFA. Here, the authors report a homozygous R688* loss of function mutation in Roquin-1 in a patient with syndromic uncontrolled hyperinflammation associated with immune cell activation and hypercytokinemia.

    • S. J. Tavernier
    • , V. Athanasopoulos
    • , P. Verloo
    • , G. Behrens
    • , J. Staal
    • , D. J. Bogaert
    • , L. Naesens
    • , M. De Bruyne
    • , S. Van Gassen
    • , E. Parthoens
    • , J. Ellyard
    • , J. Cappello
    • , L. X. Morris
    • , H. Van Gorp
    • , G. Van Isterdael
    • , Y. Saeys
    • , M. Lamkanfi
    • , P. Schelstraete
    • , J. Dehoorne
    • , V. Bordon
    • , R. Van Coster
    • , B. N. Lambrecht
    • , B. Menten
    • , R. Beyaert
    • , C. G. Vinuesa
    • , V. Heissmeyer
    • , M. Dullaers
    •  & F. Haerynck
  • Research |

    Hess and colleagues perform metabolic screens in B cells from patients with primary antibody deficiency and find that germline mutations in the succinate dehydrogenase subunit SDHA drive the expression of the cytokine IL-6 in patients with persistent polyclonal B cell lymphocytosis.

    • Anne-Valérie Burgener
    • , Glenn R. Bantug
    • , Benedikt J. Meyer
    • , Rebecca Higgins
    • , Adhideb Ghosh
    • , Olivier Bignucolo
    • , Eric H. Ma
    • , Jordan Loeliger
    • , Gunhild Unterstab
    • , Marco Geigges
    • , Rebekah Steiner
    • , Michel Enamorado
    • , Robert Ivanek
    • , Danielle Hunziker
    • , Alexander Schmidt
    • , Bojana Müller-Durovic
    • , Jasmin Grählert
    • , Raja Epple
    • , Sarah Dimeloe
    • , Jonas Lötscher
    • , Ursula Sauder
    • , Monika Ebnöther
    • , Bettina Burger
    • , Ingmar Heijnen
    • , Sarai Martínez-Cano
    • , Nathan Cantoni
    • , Rolf Brücker
    • , Christian R. Kahlert
    • , David Sancho
    • , Russell G. Jones
    • , Alexander Navarini
    • , Mike Recher
    •  & Christoph Hess
    Nature Immunology 20, 1311-1321

News and Comment