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Periodic Fever-Infantile Enterocolitis-Autoinflammatory Syndrome Hub

Trusted care. Latest research. Community. Everything Periodic Fever-Infantile Enterocolitis-Autoinflammatory Syndrome in one place.

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New Periodic Fever-Infantile Enterocolitis-Autoinflammatory Syndrome research indexed on PubMed  Β·  Recruiting trials on ClinicalTrials.gov  Β·  Find a Periodic Fever-Infantile Enterocolitis-Autoinflammatory Syndrome specialist near you  Β·  Periodic Fever-Infantile Enterocolitis-Autoinflammatory Syndrome community & caregiver support  Β·  CFRD screening reminder  Β· 
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Medical Overview of Periodic Fever-Infantile Enterocolitis-Autoinflammatory Syndrome

Sources cited

A rare genetic systemic or rheumatologic disease characterized by neonatal or infantile onset of enterocolitis (which resolves with age), periodic fever, and episodes of severe systemic inflammation, which may be precipitated by infections, stress, or fatigue. Signs and symptoms include splenomegaly, urticaria-like rashes, arthralgia, and myalgia. Associated laboratory findings are elevated inflammatory markers (such as ferritin, C-reactive protein), pancytopenia, and elevated transaminases. If left untreated, flares can progress to coagulopathy, organ failure, and death.

State of Disease · Prevalence / incidence
<1 / 1 000 000 — Point prevalence · Worldwide (Validated)
Source: ORPHANET 25217959 25217960 — via Orphanet (orphadata.com), CC-BY 4.0 · cited, never invented.
Gene / DefectNLRC4
InheritanceAutosomal dominant
Also known as: NLRC4-related autoinflammatory syndrome with macrophage activation syndrome, NLRC4-related infantile enterocolitis-autoinflammatory syndrome, NLRC4-related macrophage activation syndrome, NLRC4-related MAS, NLRC4-related autoinflammatory syndrome with MAS
Classification & codes: GARD 0017725 · Orphanet ORPHA:436166 · OMIM 616050 · ICD-10 E85.0

Sources: GARD (NIH/NCATS), Orphanet Β· last reviewed 2026. Educational only β€” not medical advice.

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News & Updates

New in Periodic Fever-Infantile Enterocolitis-Autoinflammatory Syndrome research Β· 2026

ALYFTREK shows positive Phase 3 results in children ages 2–5

Vertex plans global regulatory submissions for this pediatric age group in the first half of 2026.

Real, verifiedPediatric
Source: Vertex Pharmaceuticals newsroom · linked
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Community Discussion Β· in Parent Caregivers Β· 4 hours ago

Airway clearance routines that actually work for teens

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Clinical Trial Match Β· Recommended for you

3 open trials match this profile

Locations in NC, FL and GA.

GeneticModulatorAges 12+
Source: ClinicalTrials.gov · linked
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Upcoming Event Β· sample

Periodic Fever-Infantile Enterocolitis-Autoinflammatory Syndrome Family Conference

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Featured Education Β· Tomeko Grand Rounds

Care & management overview — Periodic Fever-Infantile Enterocolitis-Autoinflammatory Syndrome

Educational programming; see the cited sources on this hub.

Sample session · illustrative
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Periodic Fever-Infantile Enterocolitis-Autoinflammatory Syndrome News & Developments

The latest Periodic Fever-Infantile Enterocolitis-Autoinflammatory Syndrome research, news and registered trials — live from public sources. Each link opens the source directly; nothing here is auto-summarized or invented.

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Find a Periodic Fever-Infantile Enterocolitis-Autoinflammatory Syndrome Specialist Near You

Sample results β€” illustrative only. A real version would search the NPPES provider registry and CFF-certified centers by actual distance from your ZIP.

Treatment & Daily Living

Medical care plus the everyday therapies and supports relevant to Periodic Fever-Infantile Enterocolitis-Autoinflammatory Syndrome. Treatment is individualized — ask your specialist about the medications, procedures and therapies. Browse medications →

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News, podcasts, books & research for Periodic Fever-Infantile Enterocolitis-Autoinflammatory Syndrome — real coverage, links out, never re-hosted.

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Audience Guides

Plain-language guidance for the people around someone with Periodic Fever-Infantile Enterocolitis-Autoinflammatory Syndrome — how to understand it and talk about it. AI-generated for communication, not medical advice; always confirm specifics with a clinician.

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TeacherA student may need accommodations — rest breaks, bathroom access, flexible deadlines, or a place for medication. Keep the care plan handy, know the warning signs, and treat the student as capable — most want to be included, not singled out.
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CoachAsk the family what activity is safe and what to watch for. Have an emergency plan and the family's contacts on hand. Build in rest and hydration, and adapt drills so they can take part.
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Employer / managerFocus on what helps them do the job — flexible hours, remote options, accessible space, and time for appointments. Keep health details private and let them lead on what they share.
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School nurseGet the care plan and medication orders on file, know the emergency steps and who to call, and coordinate quietly with teachers so the student is supported without being singled out.
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Family & friendsLearn the basics, ask how you can help rather than assuming, and offer specific support — a meal, a ride, or just listening. Small, steady help matters more than grand gestures.

Companies Developing Treatments

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Biopharma companies with registered trials for Periodic Fever-Infantile Enterocolitis-Autoinflammatory Syndrome — from ClinicalTrials.gov. Informational, not an endorsement, and not every program is in trials.

Companies and research sponsors running trials for Periodic Fever-Infantile Enterocolitis-Autoinflammatory Syndrome — drawn from ClinicalTrials.gov (industry-sponsored studies).
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Questions For Your Next Visit

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Preferences only β€” saved to your account, never shared or sold. No PHI. Sources: GARD (NIH/NCATS), Orphanet.

Tools

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Periodic Fever-Infantile Enterocolitis-Autoinflammatory Syndrome Care Directoryfrom CFRI faculty

Every institution behind the faculty, with their affiliated experts.

Mental Health Toolkit

Sources cited

Coping strategies, how to find a a specialist therapist, and mental-health resources built for the ups and downs of living with Periodic Fever-Infantile Enterocolitis-Autoinflammatory Syndrome β€” for patients and caregivers alike.

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504 & IEP Accommodations Checklist

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Preferences only β€” saved to your account, never shared or sold. No PHI. Sources: GARD (NIH/NCATS), Orphanet.

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Grand Rounds & Accredited Education

CFRI 2026 program
Periodic Fever-Infantile Enterocolitis-Autoinflammatory Syndrome Pharmaceutical Issues β€” Drug-Drug Interactions and BeyondJake Brockmeyer, PharmD
Grand Rounds & CME — Periodic Fever-Infantile Enterocolitis-Autoinflammatory SyndromeManu Jain, MD
Clinical management — Periodic Fever-Infantile Enterocolitis-Autoinflammatory SyndromeKevin Scully, MB BCh BAO
Multidisciplinary care — Periodic Fever-Infantile Enterocolitis-Autoinflammatory SyndromeSigrid Barrett, PhD, RN
Panel: Impacts of Aging with Periodic Fever-Infantile Enterocolitis-Autoinflammatory SyndromeUluer Β· Desch Β· Brace Β· Mentch
The Bloom Effect: How Resilience Transforms UsKimberly Morse, MSW, LCSW
Periodic Fever-Infantile Enterocolitis-Autoinflammatory Syndrome in the Context of the ExposomeGabriela Oates, PhD
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Reflect on how you are doing β€” anonymous, with only de-identified group averages shown.

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Certified Centers of Excellence

CFF network

Care centers and specialists for Periodic Fever-Infantile Enterocolitis-Autoinflammatory Syndrome, from Tomeko’s verified provider directory (CMS NPPES).

Boston Children's HospitalBoston, MA
Children's Hospital of PhiladelphiaPhiladelphia, PA
Cincinnati Children's HospitalCincinnati, OH
Stanford / Lucile Packard Children'sPalo Alto, CA
Johns HopkinsBaltimore, MD
Texas Children's HospitalHouston, TX

Representative CFF centers β€” the official CFF directory has the complete, current list.

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Nonprofits & Foundations

Grants & Financial Help

Financial Guidance CompassFree, personalized care-coordination and financial-guidance service for people with Periodic Fever-Infantile Enterocolitis-Autoinflammatory Syndrome and their families.
HealthWell FoundationCopay and insurance-premium assistance for Periodic Fever-Infantile Enterocolitis-Autoinflammatory Syndrome treatments.
Patient Access Network FoundationHelps cover out-of-pocket costs for Periodic Fever-Infantile Enterocolitis-Autoinflammatory Syndrome medications.

Representative programs β€” illustrative only. Eligibility and availability vary; not a guarantee of assistance.

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State of the Disease
2026 report
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Getting Started Pack
PDF guide
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Daily Management Guide
PDF Β· illustrated
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College & Career Planning
PDF guide

Patient & Family Guides

Sources cited
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2026 State of the Disease ReportPDF Β· updated 2026

An annual snapshot of Periodic Fever-Infantile Enterocolitis-Autoinflammatory Syndrome research, treatment access and outcomes, written in plain language for patients and families.

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Getting Started PackPDF guide

Practical starting points and things to plan for in the first year after diagnosis.

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Daily Management GuidePDF Β· illustrated

Step-by-step guidance, what to expect, and a sample daily routine.

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College & Career PlanningPDF guide

Disclosure, accommodations, insurance transitions and workplace planning for teens and young adults with Periodic Fever-Infantile Enterocolitis-Autoinflammatory Syndrome.

Sources: GARD (NIH/NCATS), Orphanet Β· last reviewed 2026. Educational only β€” not medical advice.

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