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Deficiency of the interleukin-36 receptor antagonist(DITRA; PSORS14; GPP)

MedGen UID:
1676574
•Concept ID:
C4759670
•
Disease or Syndrome
Synonyms: DITRA; GENERALIZED PUSTULAR PSORIASIS; GPP; INTERLEUKIN 36 RECEPTOR ANTAGONIST DEFICIENCY; PALMOPLANTAR PUSTULOSIS; PSORIASIS 14, PUSTULAR; PSORP; PSORS14
SNOMED CT: DITRA - deficiency of interleukin 36 receptor antagonist (784339002); Deficiency of IL-36R antagonist (784339002); Deficiency of interleukin 36 receptor antagonist (784339002); Deficiency of IL-36Ra (interleukin 36 receptor antagonist) (784339002)
Modes of inheritance:
Autosomal recessive inheritance
MedGen UID:
141025
•Concept ID:
C0441748
•
Intellectual Product
Source: Orphanet
A mode of inheritance that is observed for traits related to a gene encoded on one of the autosomes (i.e., the human chromosomes 1-22) in which a trait manifests in individuals with two pathogenic alleles, either homozygotes (two copies of the same mutant allele) or compound heterozygotes (whereby each copy of a gene has a distinct mutant allele).
Autosomal recessive inheritance (Orphanet)
 
OMIM®: 605507; 614204
Orphanet: ORPHA404546

Definition

A rare genetic autoinflammatory syndrome with immune deficiency disease characterized by recurrent and severe flares of generalized pustular psoriasis associated with high fever, asthenia and systemic inflammation due to IL36R antagonist deficiency. Psoriatic nail changes (for example pitting and onychomadesis) and ichthyosis may occasionally be associated. [from SNOMEDCT_US]

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
  • CROGVDeficiency of the interleukin-36 receptor antagonist

Professional guidelines

PubMed

Scoping review of biological treatment of deficiency of interleukin-36 receptor antagonist (DITRA) in children and adolescents.
Hospach T, Glowatzki F, Blankenburg F, Conzelmann D, Stirnkorb C, Müllerschön CS, von den Driesch P, Köhler LM, Rohlfs M, Klein C, Hauck F
Pediatr Rheumatol Online J 2019 Jul 8;17(1):37. doi: 10.1186/s12969-019-0338-1. PMID: 31286990Free PMC Article
Successful treatment with infliximab of sibling cases with generalized pustular psoriasis caused by deficiency of interleukin-36 receptor antagonist.
Sugiura K, Endo K, Akasaka T, Akiyama M
J Eur Acad Dermatol Venereol 2015 Oct;29(10):2054-6. Epub 2014 Jun 9 doi: 10.1111/jdv.12590. PMID: 24910924

Recent clinical studies

Etiology

Clinical advances in biological therapy for generalized pustular psoriasis: a review.
Hsieh CY, Tsai TF
Expert Opin Biol Ther 2024 Jan-Feb;24(1-2):37-50. Epub 2024 Feb 4 doi: 10.1080/14712598.2024.2309301. PMID: 38247394
Novel use of Autoinflammatory Diseases Activity Index (AIDAI) captures skin and extracutaneous features to help manage pediatric DITRA: A case report and a proposal for a modified disease activity index in autoinflammatory keratinization disorders.
Stephenson C, Prajapati VH, Hunter C, Miettunen P
Pediatr Dermatol 2020 Jul;37(4):670-676. Epub 2020 Apr 17 doi: 10.1111/pde.14155. PMID: 32301172
Monogenic autoinflammatory diseases: concept and clinical manifestations.
Almeida de Jesus A, Goldbach-Mansky R
Clin Immunol 2013 Jun;147(3):155-74. Epub 2013 Apr 9 doi: 10.1016/j.clim.2013.03.016. PMID: 23711932Free PMC Article
The majority of generalized pustular psoriasis without psoriasis vulgaris is caused by deficiency of interleukin-36 receptor antagonist.
Sugiura K, Takemoto A, Yamaguchi M, Takahashi H, Shoda Y, Mitsuma T, Tsuda K, Nishida E, Togawa Y, Nakajima K, Sakakibara A, Kawachi S, Shimizu M, Ito Y, Takeichi T, Kono M, Ogawa Y, Muro Y, Ishida-Yamamoto A, Sano S, Matsue H, Morita A, Mizutani H, Iizuka H, Muto M, Akiyama M
J Invest Dermatol 2013 Nov;133(11):2514-2521. Epub 2013 May 22 doi: 10.1038/jid.2013.230. PMID: 23698098

Diagnosis

Cutaneous findings and treatments in deficiency of interleukin-36 receptor antagonist (DITRA): A review of the literature.
Okorie CL, Nayudu K, Nambudiri VE
Exp Dermatol 2024 Jan;33(1):e14934. Epub 2023 Sep 19 doi: 10.1111/exd.14934. PMID: 37726967
A novel mutation of interleukin-1 receptor antagonist (IL1RN) in a DIRA patient from Turkey: Diagnosis and treatment.
Sözeri B, Gerçeker-Türk B, Yıldız-Atıkan B, Mir S, Berdeli A
Turk J Pediatr 2018;60(5):588-592. doi: 10.24953/turkjped.2018.05.020. PMID: 30968643
Secukinumab for the Treatment of Deficiency of Interleukin 36 Receptor Antagonist in an Adolescent.
Molho-Pessach V, Alyan R, Gordon D, Jaradat H, Zlotogorski A
JAMA Dermatol 2017 May 1;153(5):473-475. doi: 10.1001/jamadermatol.2016.5705. PMID: 28241175
Autoinflammatory diseases in pediatrics.
Hausmann JS, Dedeoglu F
Dermatol Clin 2013 Jul;31(3):481-94. Epub 2013 Jun 2 doi: 10.1016/j.det.2013.04.003. PMID: 23827250
Autoinflammatory pustular neutrophilic diseases.
Naik HB, Cowen EW
Dermatol Clin 2013 Jul;31(3):405-25. Epub 2013 Jun 2 doi: 10.1016/j.det.2013.04.001. PMID: 23827244Free PMC Article

Therapy

Clinical advances in biological therapy for generalized pustular psoriasis: a review.
Hsieh CY, Tsai TF
Expert Opin Biol Ther 2024 Jan-Feb;24(1-2):37-50. Epub 2024 Feb 4 doi: 10.1080/14712598.2024.2309301. PMID: 38247394
Scoping review of biological treatment of deficiency of interleukin-36 receptor antagonist (DITRA) in children and adolescents.
Hospach T, Glowatzki F, Blankenburg F, Conzelmann D, Stirnkorb C, Müllerschön CS, von den Driesch P, Köhler LM, Rohlfs M, Klein C, Hauck F
Pediatr Rheumatol Online J 2019 Jul 8;17(1):37. doi: 10.1186/s12969-019-0338-1. PMID: 31286990Free PMC Article
A novel mutation of interleukin-1 receptor antagonist (IL1RN) in a DIRA patient from Turkey: Diagnosis and treatment.
Sözeri B, Gerçeker-Türk B, Yıldız-Atıkan B, Mir S, Berdeli A
Turk J Pediatr 2018;60(5):588-592. doi: 10.24953/turkjped.2018.05.020. PMID: 30968643
Successful treatment of refractory juvenile generalized pustular psoriasis with secukinumab monotherapy: A case report and review of published work.
Ho PH, Tsai TF
J Dermatol 2018 Nov;45(11):1353-1356. Epub 2018 Sep 19 doi: 10.1111/1346-8138.14636. PMID: 30230584
Autoinflammatory diseases in pediatrics.
Hausmann JS, Dedeoglu F
Dermatol Clin 2013 Jul;31(3):481-94. Epub 2013 Jun 2 doi: 10.1016/j.det.2013.04.003. PMID: 23827250

Prognosis

Acquired diffuse palmoplantar erythema with keratoderma in Chinese patients with pustular psoriasis: A predictor for IL36 receptor antagonist c.115+6T>C mutation?
Hsu FL, Hsieh CY, Tsai TF
Exp Dermatol 2024 Mar;33(3):e15056. doi: 10.1111/exd.15056. PMID: 38488485
Rare hereditary autoinflammatory disorders: towards an understanding of critical in vivo inflammatory pathways.
Kanazawa N
J Dermatol Sci 2012 Jun;66(3):183-9. Epub 2012 Jan 18 doi: 10.1016/j.jdermsci.2012.01.004. PMID: 22336993
Interleukin-36-receptor antagonist deficiency and generalized pustular psoriasis.
Marrakchi S, Guigue P, Renshaw BR, Puel A, Pei XY, Fraitag S, Zribi J, Bal E, Cluzeau C, Chrabieh M, Towne JE, Douangpanya J, Pons C, Mansour S, Serre V, Makni H, Mahfoudh N, Fakhfakh F, Bodemer C, Feingold J, Hadj-Rabia S, Favre M, Genin E, Sahbatou M, Munnich A, Casanova JL, Sims JE, Turki H, Bachelez H, Smahi A
N Engl J Med 2011 Aug 18;365(7):620-8. doi: 10.1056/NEJMoa1013068. PMID: 21848462

Clinical prediction guides

Acquired diffuse palmoplantar erythema with keratoderma in Chinese patients with pustular psoriasis: A predictor for IL36 receptor antagonist c.115+6T>C mutation?
Hsu FL, Hsieh CY, Tsai TF
Exp Dermatol 2024 Mar;33(3):e15056. doi: 10.1111/exd.15056. PMID: 38488485
Staphylococcus aureus-derived virulent phenol-soluble modulin α triggers alarmin release to drive IL-36-dependent corneal inflammation.
Nakajima I, Fukuda K, Ishida W, Kishimoto T, Kuwana A, Suzuki T, Kaito C, Yamashiro K
Microbes Infect 2024 Jan-Feb;26(1-2):105237. Epub 2023 Oct 5 doi: 10.1016/j.micinf.2023.105237. PMID: 37805122
Scoping review of biological treatment of deficiency of interleukin-36 receptor antagonist (DITRA) in children and adolescents.
Hospach T, Glowatzki F, Blankenburg F, Conzelmann D, Stirnkorb C, Müllerschön CS, von den Driesch P, Köhler LM, Rohlfs M, Klein C, Hauck F
Pediatr Rheumatol Online J 2019 Jul 8;17(1):37. doi: 10.1186/s12969-019-0338-1. PMID: 31286990Free PMC Article
Rare hereditary autoinflammatory disorders: towards an understanding of critical in vivo inflammatory pathways.
Kanazawa N
J Dermatol Sci 2012 Jun;66(3):183-9. Epub 2012 Jan 18 doi: 10.1016/j.jdermsci.2012.01.004. PMID: 22336993
Interleukin-36-receptor antagonist deficiency and generalized pustular psoriasis.
Marrakchi S, Guigue P, Renshaw BR, Puel A, Pei XY, Fraitag S, Zribi J, Bal E, Cluzeau C, Chrabieh M, Towne JE, Douangpanya J, Pons C, Mansour S, Serre V, Makni H, Mahfoudh N, Fakhfakh F, Bodemer C, Feingold J, Hadj-Rabia S, Favre M, Genin E, Sahbatou M, Munnich A, Casanova JL, Sims JE, Turki H, Bachelez H, Smahi A
N Engl J Med 2011 Aug 18;365(7):620-8. doi: 10.1056/NEJMoa1013068. PMID: 21848462

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