Homozygous IL1RN Mutation in Siblings with Deficiency of Interleukin-1 Receptor Antagonist (DIRA)

Vahid Ziaee; Leila Youssefian; Masoomeh Faghankhani; Ali Jazayeri; Amir Hossein Saeidian; Hassan Vahidnezhad; Jouni Uitto

doi:10.1007/s10875-020-00767-w

Homozygous IL1RN Mutation in Siblings with Deficiency of Interleukin-1 Receptor Antagonist (DIRA)

J Clin Immunol. 2020 May;40(4):637-642. doi: 10.1007/s10875-020-00767-w. Epub 2020 Mar 13.

Authors

Vahid Ziaee^{1

2}, Leila Youssefian^{3

4

5

6}, Masoomeh Faghankhani^{3

6}, Ali Jazayeri⁷, Amir Hossein Saeidian^{3

4

6}, Hassan Vahidnezhad^{8

9

10}, Jouni Uitto^{11

12}

Affiliations

¹ Pediatric Rheumatology Research Group, Rheumatology Research Center, Tehran University of Medical Sciences, Tehran, Iran.
² Department of Pediatrics, Tehran University of Medical Sciences, Tehran, Iran.
³ Department of Dermatology and Cutaneous Biology, Sidney Kimmel Medical College at Thomas Jefferson University, 233 S. 10th Street, Suite 450 BLSB, Philadelphia, PA, 19107, USA.
⁴ Genetics, Genomics and Cancer Biology PhD Program, Thomas Jefferson University, Philadelphia, PA, USA.
⁵ Department of Medical Genetics, School of Medicine, Tehran University of Medical Sciences, Tehran, Iran.
⁶ Jefferson Institute of Molecular Medicine, Thomas Jefferson University, Philadelphia, PA, USA.
⁷ Department of Information Science, College of Computing and Informatics, Drexel University, Philadelphia, PA, USA.
⁸ Department of Dermatology and Cutaneous Biology, Sidney Kimmel Medical College at Thomas Jefferson University, 233 S. 10th Street, Suite 450 BLSB, Philadelphia, PA, 19107, USA. hassan.vahidnezhad@jefferson.edu.
⁹ Jefferson Institute of Molecular Medicine, Thomas Jefferson University, Philadelphia, PA, USA. hassan.vahidnezhad@jefferson.edu.
¹⁰ Biotechnology Research Center, Department of Molecular Medicine, Pasteur Institute of Iran, Tehran, Iran. hassan.vahidnezhad@jefferson.edu.
¹¹ Department of Dermatology and Cutaneous Biology, Sidney Kimmel Medical College at Thomas Jefferson University, 233 S. 10th Street, Suite 450 BLSB, Philadelphia, PA, 19107, USA. Jouni.Uitto@jefferson.edu.
¹² Jefferson Institute of Molecular Medicine, Thomas Jefferson University, Philadelphia, PA, USA. Jouni.Uitto@jefferson.edu.

PMID: 32170523
DOI: 10.1007/s10875-020-00767-w

No abstract available

Publication types

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

MeSH terms

Adolescent
Anti-Inflammatory Agents / therapeutic use*
Exanthema
Fever
Hereditary Autoinflammatory Diseases / diagnosis*
Hereditary Autoinflammatory Diseases / drug therapy
Hereditary Autoinflammatory Diseases / genetics
Homozygote
Humans
Infant
Interleukin 1 Receptor Antagonist Protein / genetics
Interleukin 1 Receptor Antagonist Protein / therapeutic use*
Male
Mucositis
Mutation / genetics*
Pedigree
Siblings

Substances

Anti-Inflammatory Agents
IL1RN protein, human
Interleukin 1 Receptor Antagonist Protein

Supplementary concepts

Deficiency of interleukin-1 receptor antagonist