Childhood Autoinflammatory Diseases

The autoinflammatory family of diseases share features of unprovoked, recurrent attacks of inflammation with fever, rash, body pain/arthritis, and organ inflammation. The family includes a handful of defined monogenic diseases, but more than 80% of cases do not have a known cause.

This project will establish a clinical home at BCCH for children with autoinflammatory disorders, and develop in parallel a robust, longitudinal collection of clinical data and biological samples for research. Laboratory initiatives will evaluate the clinical potential of previously identified, putative biomarkers of autoinflammation, and seek to uncover new disease etiologies.

Pathogenic mechanisms of autoinflammation (From: Holzinger D., Kessel C., Omenetti A., Gattorno M. (2015) Nat. Rev. Rheumatol. Oct; 11(10): 573-85)

CAN-Fever Registry


The purpose of this registry is to develop a collection of information about autoinflammatory diseases in kids in order to better understand and better treat these diseases. Researches will be able to use the registry as a tool to help determine what sort of research questions are important to study. Children diagnosed with any type of autoinflammatory disease may be eligible for this study.

Selected Publications

  • Children with systemic autoinflammatory diseases have multiple, mixed ethnicities that reflect regional ethnic diversity

    Tucker LB, Niemietz I, Mangat P, Belen M, Tekano J, Cabral DA, Morishita KA, Guzman J, Human A, Houghton K, Chan M, Petty RE, Sundqvist M, Brown KL.

    (2021) Clinical and Experimental Rheumatology Manuscript #14653, accepted with minor revisions June 2021.

  • Hyaluronan primes the oxidative burst in human neutrophils

    Niemietz I, Moraes AT, Sundqvist M, and Brown KL.

    (2020) Journal of Leukocyte Biology 108(2): 705-713. PubMed

  • Complexity in unclassified auto-inflammatory disease: A case report illustrating the potential for disease arising from the allelic burden of multiple variants

    Tucker LB , Lamot L, Niemietz I, Chung BK, Cabral DA, Houghton K, Petty RE, Morishita KA, Rice GI, Turvey SE, Gibson WT, and Brown KL.

    (2019) Pediatric Rheumatology 17(1): 70. PubMed

  • Periodic fever Syndromes: beyond the single gene paradigm

    Westwell-Roper C, Niemietz I, Tucker LB and Brown KL.

    (2019) Pediatric Rheumatology Online Journal 17(1): 22. PubMed

  • Detection of type I interferon in monogenic interferonopathies and beyond. Review

    Lamot L, Niemietz I and Brown KL.

    (2019) Clinical and Experimental Rheumatology In Press. 29 Mar. PubMed

  • Measles Lymphadenopathy in a Child With PFAPA Syndrome

    Jefferson T, Brown KL, Hiebert J, Al-Rawahi GN, Moxham JP, Krajden M, Jassem AN and Tucker LB.

    (2017) Pediatric and Developmental Pathology 21(5): 497-501. PubMed

  • The where, when, how and why of hyaluronan binding by immune cells

    Lee-Sayer SS, Dong Y, Arif AA, Olsson M, Brown KL, Johnson P.

    (2015) Front. Immunol. 6: 150. PubMed

  • Increased intracellular oxygen radical production in neutrophils during febrileepisodes of PFAPA syndrome

    Sundqvist M, Wekell P, Osla V, Bylund J, Christenson K, Sävman K, Fasth A, Berg S, Karlsson A*, Brown KL*. (* authors contributed equally).

    (2013) Arthritis & Rheumatism 65: 2971-2983. PubMed