Laboratory for Molecular Diagnostics
Center for Nephrology and Metabolic Disorders
Moldiag Diseases Genes Support Contact

Interleukin 36 receptor antagonist deficiency

DITRA disease is an autosomal recessive immune deficiency with recurrent pustular psoriasis.

Systematic

Hereditary dermatological disorders
Autoinflammation with arthritis and dyskeratosis
Chronic atypical neutrophilic dermatosis-lipodystrophy-elevated temperature syndrome
Dyschromatosis symmetrica hereditaria
Ectodermal dysplasia and immunodeficiency
Epidermolysis bullosa
Familial acne inversa 1
Griscelli syndrome type 2
Hermansky-Pudlak syndrome 2
Incontinentia pigmenti
Infantile-onset periodic fever-panniculitis-dermatosis syndrome
Interleukin 36 receptor antagonist deficiency
IL36RN
Interstitial lung disease with nephrotic syndrome and epidermolysis bullosa
Keratosis linearis-ichthyosis congenita-sclerosing keratoderma syndrome
Neonatal inflammatory skin and bowel disease type 1
Nephropathy with pretibial epidermolysis bullosa and deafness
Piebaldism
Psoriasis
Pyoderma gangrenosum, acne, and hidradenitis suppurativa (PASH)
Pyogenic arthritis-pyoderma gangrenosum-acne syndrome
Susceptibility to vitiligo-associated multiple autoimmune disease 1

References:

1.

Onoufriadis A et. al. (2011) Mutations in IL36RN/IL1F5 are associated with the severe episodic inflammatory skin disease known as generalized pustular psoriasis.

external link
2.

Marrakchi S et al. (2011) Interleukin-36-receptor antagonist deficiency and generalized pustular psoriasis.

external link
3.

Farooq M et. al. (2013) Mutation analysis of the IL36RN gene in 14 Japanese patients with generalized pustular psoriasis.

external link
4.

Setta-Kaffetzi N et al. (2013) Rare pathogenic variants in IL36RN underlie a spectrum of psoriasis-associated pustular phenotypes.

external link
5.

Krber A et. al. (2013) Mutations in IL36RN in patients with generalized pustular psoriasis.

external link
6.

Sugiura K et al. (2013) The majority of generalized pustular psoriasis without psoriasis vulgaris is caused by deficiency of interleukin-36 receptor antagonist.

external link
7.

Berki DM et. al. (2014) Loss of IL36RN function does not confer susceptibility to psoriasis vulgaris.

external link
8.

Li M et. al. (2013) Prevalent and rare mutations in IL-36RN gene in Chinese patients with generalized pustular psoriasis and psoriasis vulgaris.

external link
9.

None (2013) IL36RN mutations in generalized pustular psoriasis: just the tip of the iceberg?

external link
Update: Aug. 14, 2020
Copyright © 2005-2024 by Center for Nephrology and Metabolic Disorders, Dr. Mato Nagel, MD
Albert-Schweitzer-Ring 32, D-02943 Weißwasser, Germany, Tel.: +49-3576-287922, Fax: +49-3576-287944
Sitemap | Webmail | Disclaimer | Privacy Issues | Website Credits