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 |

    Zinc is important for normal immunity but its mechanistic actions are poorly understood. Hambleton and colleagues identify defects in Zn2+ transport that underpin a novel human immunodeficiency characterized by loss of mature B cells.

    • Consuelo Anzilotti
    • , David J. Swan
    • , Bertrand Boisson
    • , Mukta Deobagkar-Lele
    • , Catarina Oliveira
    • , Pauline Chabosseau
    • , Karin R. Engelhardt
    • , Xijin Xu
    • , Rui Chen
    • , Luis Alvarez
    • , Rolando Berlinguer-Palmini
    • , Katherine R. Bull
    • , Eleanor Cawthorne
    • , Adam P. Cribbs
    • , Tanya L. Crockford
    • , Tarana Singh Dang
    • , Amy Fearn
    • , Emma J. Fenech
    • , Sarah J. de Jong
    • , B. Christoffer Lagerholm
    • , Cindy S. Ma
    • , David Sims
    • , Bert van den Berg
    • , Yaobo Xu
    • , Andrew J. Cant
    • , Gary Kleiner
    • , T. Ronan Leahy
    • , M. Teresa de la Morena
    • , Jennifer M. Puck
    • , Ralph S. Shapiro
    • , Mirjam van der Burg
    • , J. Ross Chapman
    • , John C. Christianson
    • , Benjamin Davies
    • , John A. McGrath
    • , Stefan Przyborski
    • , Mauro Santibanez Koref
    • , Stuart G. Tangye
    • , Andreas Werner
    • , Guy A. Rutter
    • , Sergi Padilla-Parra
    • , Jean-Laurent Casanova
    • , Richard J. Cornall
    • , Mary Ellen Conley
    •  & Sophie Hambleton
    Nature Immunology 20, 350-361
  • Research |

    Primary immunodeficiency can predispose patients to mycobacterial disease. Casanova and colleagues identify novel human mutations in the enzyme SPPL2A that result in selective accumulation of CD74 in a dendritic cell subset and lead to their death and the failure to mount effective TH1 responses.

    • Xiao-Fei Kong
    • , Ruben Martinez-Barricarte
    • , James Kennedy
    • , Federico Mele
    • , Tomi Lazarov
    • , Elissa K. Deenick
    • , Cindy S. Ma
    • , Gaëlle Breton
    • , Kimberly B. Lucero
    • , David Langlais
    • , Aziz Bousfiha
    • , Caner Aytekin
    • , Janet Markle
    • , Céline Trouillet
    • , Fabienne Jabot-Hanin
    • , Cecilia S. Lindestam Arlehamn
    • , Geetha Rao
    • , Capucine Picard
    • , Théo Lasseau
    • , Daniela Latorre
    • , Sophie Hambleton
    • , Caroline Deswarte
    • , Yuval Itan
    • , Katia Abarca
    • , Dewton Moraes-Vasconcelos
    • , Fatima Ailal
    • , Aydan Ikinciogullari
    • , Figen Dogu
    • , Ibtihal Benhsaien
    • , Alessandro Sette
    • , Laurent Abel
    • , Stéphanie Boisson-Dupuis
    • , Bernd Schröder
    • , Michel C. Nussenzweig
    • , Kang Liu
    • , Frédéric Geissmann
    • , Stuart G. Tangye
    • , Philippe Gros
    • , Federica Sallusto
    • , Jacinta Bustamante
    •  & Jean-Laurent Casanova
    Nature Immunology 19, 973-985

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