Deficiency of the Interleukin-1ß (IL-1ß) Receptor Antagonist (DIRA) (aka Osteomyelitis, Sterile Multifocal with Periostitis Pustulosis)

Order Genetic Testing

Acronym:
DIRA/OMPP

SAID group:
Inflammatory Bone Diseases

Gene:
IL1RN

Inheritance:
Autosomal recessive.

Ethnicity:
Carriers in 0.2% population of Newfoundland and 1.3% in Puerto Rico. Some North American, Dutch, Brazilian and Lebanese patients. [16]

Frequency:
Unknown, but very rare. In some parts of Aricibo, Puerto Rico there are more DIRA carriers, so DIRA may occur in 1:6300 people there. [16]

Timing of symptoms:
Continuous inflammation from birth/fetal development. Untreated DIRA can lead to death in infancy or early childhood. [16]

Age of onset:
Most have symptoms at birth, or as a neonate, such as: pustular rash, bone pain, swollen joints, and apthous ulcers. [16]

Skin cutaneous:
Epidermal neutrophilic pustules at hair follicles. Aphthous ulcers, stomatitis, pathergy, hyperkeratosis, acanthosis; high neutrophil infiltrate of the dermis. [16] [26]

Neurologic:
High fevers are NOT common, or noted in the neonatal period. Neurological complications are not common. A few cases of cerebral vasculitis noted. [16] [26]

Auditory:
Not noted. [15] [16]

Ophthalamic:
Eye issues are rare. Non-infectious conjunctivitis may be caused by DIRA. [15] [16]

Cardiopulmonary:
Some with respiratory distress. One known case of pulmonary hemosiderosis with progressive interstitial fibrosis. [15] [16] [17]

Abdominal:
DIRA patients rarely have gastrointestinal issues. Failure to thrive is common. Hepatomegaly, splenomegaly or hepatosplenomegaly is common. Risk of organ failure if DIRA is untreated. [16]

Lymphatic:
Splenomegaly is common.[16]

Joints bones muscles cartilage:
Joint swelling and severe bone pain. Bone biopsies show no infection. Common: Balloon-like widening of the anterior rib ends, periosteal elevation along multiple long bones, multifocal osteolytic lesions. Other bones may be affected. [16]

Vasculitis:
A few with localized or cerebral vasculitis. [16]

Amyloidosis:
Not noted. [15] [16] [17]

Abnormal labs:
High: ESR, CRP, leukocytosis, chronic anemia. [16] [56]

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