X-linked anhidrotic ectodermal dysplasia with immunodeficiency is caused by impaired NF-κB signaling
…, F Geissmann, J Feinberg, A Durandy, C Bodemer… - Nature …, 2001 - nature.com
The molecular basis of X-linked recessive anhidrotic ectodermal dysplasia with immunodeficiency
(EDA-ID) has remained elusive. Here we report hypomorphic mutations in the gene …
(EDA-ID) has remained elusive. Here we report hypomorphic mutations in the gene …
Chronic mucocutaneous candidiasis in humans with inborn errors of interleukin-17 immunity
…, M Audry, M Gumbleton, A Toulon, C Bodemer… - Science, 2011 - science.org
Chronic mucocutaneous candidiasis disease (CMCD) is characterized by recurrent or persistent
infections of the skin, nails, and oral and genital mucosae caused by Candida albicans …
infections of the skin, nails, and oral and genital mucosae caused by Candida albicans …
[HTML][HTML] Interleukin-36–receptor antagonist deficiency and generalized pustular psoriasis
…, N Mahfoudh, F Fakhfakh, C Bodemer… - … England Journal of …, 2011 - Mass Medical Soc
Background Generalized pustular psoriasis is a life-threatening disease of unknown cause.
It is characterized by sudden, repeated episodes of high-grade fever, generalized rash, and …
It is characterized by sudden, repeated episodes of high-grade fever, generalized rash, and …
Mutations in SPINK5, encoding a serine protease inhibitor, cause Netherton syndrome
S Chavanas, C Bodemer, A Rochat, D Hamel-Teillac… - Nature …, 2000 - nature.com
We describe here eleven different mutations in SPINK5, encoding the serine protease inhibitor
LEKTI, in 13 families with Netherton syndrome (NS, MIM256500). Most of these mutations …
LEKTI, in 13 families with Netherton syndrome (NS, MIM256500). Most of these mutations …
Gain-of-function human STAT1 mutations impair IL-17 immunity and underlie chronic mucocutaneous candidiasis
…, M Bué, N Karin, G Wildbaum, C Bodemer… - Journal of Experimental …, 2011 - rupress.org
Chronic mucocutaneous candidiasis disease (CMCD) may be caused by autosomal dominant
(AD) IL-17F deficiency or autosomal recessive (AR) IL-17RA deficiency. Here, using whole…
(AD) IL-17F deficiency or autosomal recessive (AR) IL-17RA deficiency. Here, using whole…
Revised nomenclature and classification of inherited ichthyoses: results of the First Ichthyosis Consensus Conference in Sorèze 2009
…, G Tadini, M Akiyama, CB Bardon, C Bodemer… - Journal of the American …, 2010 - Elsevier
BACKGROUND: Inherited ichthyoses belong to a large, clinically and etiologically heterogeneous
group of mendelian disorders of cornification, typically involving the entire integument. …
group of mendelian disorders of cornification, typically involving the entire integument. …
Autoantibodies against IL-17A, IL-17F, and IL-22 in patients with chronic mucocutaneous candidiasis and autoimmune polyendocrine syndrome type I
…, C Roifman, S Blanche, A Fischer, C Bodemer… - Journal of Experimental …, 2010 - rupress.org
Most patients with autoimmune polyendocrine syndrome type I (APS-I) display chronic
mucocutaneous candidiasis (CMC). We hypothesized that this CMC might result from …
mucocutaneous candidiasis (CMC). We hypothesized that this CMC might result from …
Mutations involved in Aicardi-Goutieres syndrome implicate SAMHD1 as regulator of the innate immune response
Aicardi-Goutières syndrome is a mendelian mimic of congenital infection and also shows
overlap with systemic lupus erythematosus at both a clinical and biochemical level. The recent …
overlap with systemic lupus erythematosus at both a clinical and biochemical level. The recent …
Assessment of interferon-related biomarkers in Aicardi-Goutieres syndrome associated with mutations in TREX1, RNASEH2A, RNASEH2B, RNASEH2C, SAMHD1 …
…, U Balottin, C Barnerias, G Bernard, C Bodemer… - The lancet …, 2013 - thelancet.com
Background Aicardi-Goutières syndrome (AGS) is an inflammatory disorder caused by
mutations in any of six genes (TREX1, RNASEH2A, RNASEH2B, RNASEH2C, SAMHD1, and …
mutations in any of six genes (TREX1, RNASEH2A, RNASEH2B, RNASEH2C, SAMHD1, and …
Detection of interferon alpha protein reveals differential levels and cellular sources in disease
…, C Barnerias, N Bellon, A Belot, C Bodemer… - Journal of experimental …, 2017 - rupress.org
Type I interferons (IFNs) are essential mediators of antiviral responses. These cytokines
have been implicated in the pathogenesis of autoimmunity, most notably systemic lupus …
have been implicated in the pathogenesis of autoimmunity, most notably systemic lupus …