IRF8Mutations and Human Dendritic-Cell Immunodeficiency | Zendy

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IRF8Mutations and Human Dendritic-Cell Immunodeficiency

Author(s) -

Sophie Hambleton,

Sandra Salem,

Jacinta Bustamante,

Venetia Bigley,

Stéphanie BoissonDupuis,

Joana Azevedo,

Anny Fortin,

Muzlifah Haniffa,

Lourdes CeronGutierrez,

Chris M. Bacon,

Geetha Me,

Céline Trouillet,

David McDonald,

Peter Carey,

Florent Ginhoux,

Laia Alsina,

Timothy J. Zumwalt,

XiaoFei Kong,

Dinakantha Kumararatne,

Karina Butler,

Marjorie Hubeau,

Jacqueline Feinberg,

Saleh AlMuhsen,

Andrew J. Cant,

Laurent Abel,

Damien Chaussabel,

Rainer Döffinger,

Eduardo Talesnik,

Anete Sevciovic Grumach,

Alberto José da Silva Duarte,

Katia Abarca,

Dewton de Moraes Vasconcelos,

David L. Burk,

Albert M. Berghuis,

Frédéric Geissmann,

Matthew Collin,

JeanLaurent Casanova,

Philippe Gros

Publication year - 2011

Publication title -

new england journal of medicine

Language(s) - English

Resource type - Journals

SCImago Journal Rank - 19.889

H-Index - 1030

eISSN - 1533-4406

pISSN - 0028-4793

DOI - 10.1056/nejmoa1100066

Subject(s) - primary immunodeficiency , severe combined immunodeficiency , medicine , immunology , immunodeficiency , immunologic deficiency syndromes , disease , virology , immune system , biology , gene , genetics , pathology

The genetic analysis of human primary immunodeficiencies has defined the contribution of specific cell populations and molecular pathways in the host defense against infection. Disseminated infection caused by bacille Calmette-Guérin (BCG) vaccines is an early manifestation of primary immunodeficiencies, such as severe combined immunodeficiency. In many affected persons, the cause of disseminated BCG disease is unexplained.

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