NOMID Case Study

Patient insight: Quinn

Treated with KINERET since 2009.

Young girl smiling with her parents in the background

Patient age at first visit: 6 months

Patient age at diagnosis and initiation of KINERET treatment: 12 months

Relevant history/physical exam

  • Persistent urticaria-like rash
  • Recurrent high fevers
  • Failure to thrive (5th percentile for weight)
  • Mild facial dysmorphia (frontal bossing, saddle nose)
  • Mild developmental motor delays


Relevant lab tests during evaluation period

CRP: Ranged from 27 to 305 mg/L (normal <5 mg/L)

WBC: Ranged from 27.7 to 44.4 x 109/L (normal range 4-11 x 109/L)

Genetic testing: Negative for mutations in NLRP3/CIAS1 gene

Treating physician’s approach to evaluating Quinn:

1. Rule out infection and malignancy

  • Referrals to infectious disease specialists and oncologists
  • Extensive testing included lumbar punctures, colonoscopy, and bone marrow and skin biopsies

2. Consider autoinflammatory symptoms

  • Based on Quinn’s age and the severity of her symptoms, NOMID was a strong possibility


Treating physician suspected NOMID and decided to try KINERET

  • Quinn had many of the symptoms associated with NOMID
    • Other common symptoms (eg, hearing loss and conjunctivitis) were not present
  • Quinn tested negative for NLRP3/CIAS1 mutation (mutation is absent in ~40% of cases)
  • 2016 clinical diagnostic criteria for CAPS do not “mandate evidence of a disease-causing NLRP3 mutation”

Results with KINERET treatment

Quinn’s response to KINERET confirmed treating physician’s suspected diagnosis of NOMID

  • CRP levels dropped from 300 mg/L to 3 mg/L overnight
    • Rash and irritability/pain also improved

Quinn has been taking KINERET since 2009

  • KINERET keeps Quinn’s NOMID symptoms under control
  • Infections and stress still cause periodic flares
    • Headache, fever, and fatigue are the primary symptoms
    • Quinn periodically takes acetaminophen during flares
  • Quinn is an active child who continues to meet age-appropriate developmental and growth milestones
    • Quinn started to self-inject at 8 years old

This case represents one patient's experience as interviewed in 2017. Individual outcomes may vary and are dependent on a patient's clinical history and profile, as well as their treating physician's discretion.

See the data
  • Timeline marker showing the start of birth
    • Born prematurely (34 weeks gestation)
    • Rash
    • Fever
    • Continued symptoms and
      failure to thrive
    • Consultations with multiple
  • Timeline marker marking the 6 months of birth
    • Initial visit with treating physician
    • Treating physician evaluation
    • Included referrals to
      more specialists
  • Timeline marker marking the 12 months of birth
    • Hospitalized for aseptic meningitis
    • NOMID diagnosed
    • KINERET treatment began
  • Timeline marker marking the 8 years of age
    • Started self-injecting KINERET
  • Timeline marker marking the 11 years of age
    • Continues KINERET treatment