Interleukin 1 Receptor Antagonist Deficiency Presenting as Infantile Pustulosis Mimicking Infantile Pustular Psoriasis

DNAX-activating Protein 10 (DAP10) Membrane Adaptor Associates with Receptor for Advanced Glycation End Products (RAGE) and Modulates the RAGE-triggered Signaling Pathway in Human Keratinocytes

“…Mutation in IL-1Ra and deletion in IL-36Ra have been observed in patients with pustular psoriasis (61)(62)(63)(64). A functional defect in the antagonists caused a failure in the control of inflammatory signals from the IL-1 receptor family.…”

Autoinflammatory Diseases Predominantly Affecting Bone and Joints

“…40,41 Nearly half of the infants are born preterm (31À36 weeks gestation). 40,41,111,113 A report of intra-uterine demise at 27 weeks' gestation in a suspected case, and reports of infants being small for gestational age in one-third of DIRA patients, suggests that intrauterine onset is possible. 111 All DIRA patients have evidence of systemic inflammation with raised inflammatory markers in the blood 40-…”

“…Plain radiographs typically reveal multifocal osteomyelitis and marked periostitis as early as the first weeks of life, but bone disease may not become apparent until infants are 4À6 months old. 40,41,113,114,116 Nearly any bone can be affected, but there is a predilection for the long bones, ribs, clavicles, and vertebral bodies. 40,41 Perivertebral fibrosis, vertebral body collapse, vertebral body fusion, and cervical spine instability have been reported.…”

“…40,114 Fever, hepatosplenomegaly, and failure to thrive occur in many but not all affected infants. 40,42,112,113,115 Venous thrombosis has been reported, typically associated with a central venous line. 41,42,112,114 Respiratory distress can be seen, and one infant developed significant interstitial lung disease 40À42,111,112,115 which was fatal.…”

Rilonacept maintains long-term inflammatory remission in patients with deficiency of the IL-1 receptor antagonist

“…Their case histories have been published (3,4,18,33,34). None of the patients enrolled were on disease-modifying antirheumatic drugs, including methotrexate or oral steroids, at the time of enrollment.…”