Deficiency of interleukin-1 receptor antagonist

A hereditary autosomal recessive autoinflammatory disease caused by a deficiency in the interleukin-1 receptor antagonist protein due to mutations in the IL1RN gene. It is characterized by FETAL DISTRESS at delivery and multiple abnormalities affecting the LIVER; SPLEEN; SKIN; BONES and JOINTS. OMIM: 612852

Also Known As:

Deficiency Of Interleukin 1 Receptor Antagonist; Deficiency of interleukin(IL)-1 receptor antagonist; Deficiency of interleukin-1 receptor antagonist (DIRA); Interleukin 1 receptor antagonist deficiency; Osteomyelitis, sterile multifocal, with periostitis and pustulosis

Amino Acids, Peptides, and Proteins: 1
- Proteins: 484843
  - Intercellular Signaling Peptides and Proteins: 29768
    - Cytokines: 164289
      - Interleukin 1 Receptor Antagonist Protein: 3046
        Deficiency of interleukin-1 receptor antagonist: 16
- Peptides: 82426
  - Intercellular Signaling Peptides and Proteins: 29768
    - Cytokines: 164289
      - Interleukin 1 Receptor Antagonist Protein: 3046
        Deficiency of interleukin-1 receptor antagonist: 16
Biological Factors: 2472
- Intercellular Signaling Peptides and Proteins: 29768
  - Cytokines: 164289
    - Interleukin 1 Receptor Antagonist Protein: 3046
      - Deficiency of interleukin-1 receptor antagonist: 16
Congenital, Hereditary, and Neonatal Diseases and Abnormalities: 933
- Inborn Genetic Diseases: 11939
  - Hereditary Autoinflammatory Diseases: 43
    - Deficiency of interleukin-1 receptor antagonist: 16
Skin and Connective Tissue Diseases
- Skin Diseases: 13127
  - Genetic Skin Diseases: 47
    - Hereditary Autoinflammatory Diseases: 43
      - Deficiency of interleukin-1 receptor antagonist: 16

Nienke M ter Haar Selected Research

Nienke M ter Haar Research Topics

Disease

Drug/Important Bio-Agent (IBA)