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X-linked susceptibility to mycobacteria is caused by mutations in NEMO impairing CD40-dependent IL-12 production.

The Journal of experimental medicine, July 10, 2006, Vol.203(7), pp.1745-1759 [Peer Reviewed Journal]

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Autoantibodies against IL-17A, IL-17F, and IL-22 in patients with chronic mucocutaneous candidiasis and autoimmune polyendocrine syndrome type I.

The Journal of experimental medicine, February 15, 2010, Vol.207(2), pp.291-297 [Peer Reviewed Journal]

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The French national registry of primary immunodeficiency diseases.

Clinical immunology (Orlando, Fla.), May 2010, Vol.135(2), pp.264-272 [Peer Reviewed Journal]

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Isolated congenital asplenia: a French nationwide retrospective survey of 20 cases.

The Journal of pediatrics, January 2011, Vol.158(1), pp.142-8, 148.e1 [Peer Reviewed Journal]

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An ACT1 mutation selectively abolishes interleukin-17 responses in humans with chronic mucocutaneous candidiasis.

Immunity, October 17, 2013, Vol.39(4), pp.676-686 [Peer Reviewed Journal]

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Deep dermatophytosis and inherited CARD9 deficiency.

The New England journal of medicine, October 31, 2013, Vol.369(18), pp.1704-1714 [Peer Reviewed Journal]

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Clinical picture and treatment of 2212 patients with common variable immunodeficiency.

The Journal of allergy and clinical immunology, July 2014, Vol.134(1), pp.116-126 [Peer Reviewed Journal]

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Heterozygous STAT1 gain-of-function mutations underlie an unexpectedly broad clinical phenotype.

Blood, June 23, 2016, Vol.127(25), pp.3154-3164 [Peer Reviewed Journal]

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Morbidity and mortality from ataxia-telangiectasia are associated with ATM genotype

The Journal of Allergy and Clinical Immunology [Peer Reviewed Journal]

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by this Author/Contributor:

  1. Casanova, Jean-Laurent
  2. Picard, Capucine
  3. Puel, Anne
  4. Fischer, Alain
  5. Fieschi, Claire

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