Homozygous IL36RN mutation and NSD1 duplication in a patient with severe pustular psoriasis and symptoms unrelated to deficiency of interleukin-36 receptor antagonist

Br J Dermatol. 2015 Jan;172(1):302-5. doi: 10.1111/bjd.13261. Epub 2014 Dec 8.

Authors

R Carapito¹, B Isidor, N Guerouaz, M Untrau, M Radosavljevic, E Launay, E Cassagnau, C Frenard, H Aubert, B Romefort, C Le Caignec, L Ott, N Paul, S Barbarot, S Bahram

Affiliation

¹ Plateforme GENOMAX, Laboratoire d'ImmunoRhumatologie Moléculaire, INSERM UMR_S1109, Centre de Recherche d'Immunologie et d'Hématologie, Faculté de Médecine, Fédération de Médecine Translationnelle de Strasbourg, Université de Strasbourg, 4 Rue Kirschleger, 67085, Strasbourg Cedex, France.

PMID: 25039711
DOI: 10.1111/bjd.13261

No abstract available

Publication types

Letter
Research Support, Non-U.S. Gov't

MeSH terms

Histone Methyltransferases
Histone-Lysine N-Methyltransferase
Homozygote
Humans
Infant
Interleukins / deficiency*
Interleukins / genetics*
Intracellular Signaling Peptides and Proteins / genetics*
Male
Mutation / genetics*
Nuclear Proteins / genetics*
Psoriasis / genetics*

Substances

IL36RN protein, human
Interleukins
Intracellular Signaling Peptides and Proteins
Nuclear Proteins
Histone Methyltransferases
Histone-Lysine N-Methyltransferase
NSD1 protein, human