[MIM 612 852]

(Deficiency of the interleukin 1 receptor antagonist)

Acronym for Deficiency in  Interleukin 1  Receptor  Antagonist

Very rare. Autosomal recessive transmission of a mutation of the IL1RN gene (2q14.2) coding for the interleukin 1 receptor antagonist (IL-1RA), a protein that plays a role in controlling inflammation. IL-1RA neutralizes interleukin 1 (IL-1), which is a powerful pro-inflammatory agent. The mutation results in a lack of control over the production of IL-1 and a chronic auto-inflammatory situation with mainly cutaneous and osseous involvement, but other organs such as the lungs may be affected.

Clinical presentation:

• skin inflammation characterized by localized or generalized redness, pustules and flaking with presentation similar to pustular psoriasis. Generalized ichthyosis, ungueal lesions (psoriasis, punctuation, detachment) can be found, ulcerative stomatitis. The skin disease appears spontaneously, but it can be exacerbated by a local injury. For example, inserting an intravenous catheter often causes local inflammation.
• bone inflammation characterized by painful bone swelling, often covered with red warm skin. Many bones can be affected, especially in the limbs and ribs. The inflammation typically affects the periosteum.

The disease is present from the first days of life: pustular rash, mouth lesions, joint swelling, hepatosplenomegaly.

Sometimes presence of cerebral vasculitis, pulmonary hemosiderosis with progressive fibrosis, growth delay.

Treatment : colchicine or, better, a daily subcutaneous injection of anakinra, a recombinant of the interleukin 1 receptor antagonist.

Anesthetic implications: 

SpO2  at room air, fragile skin, antibioprophylaxis, drug interactions due to treatment (corticosteroids)

References : 

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Updated: February 2021