Overview

My research focuses on primary immune deficiency and dysregulatory syndromes (PIDs). These are conditions caused by genetic changes that affect how the immune system develops or functions. Those affected by PIDs may suffer from recurrent infections, as well as excessive inflammation caused by difficulties in controlling immune responses, such severe allergic disease or autoimmunity. The wide ranging clinical manifestations makes it challenging to recognize PIDs, leading to delays in diagnosis and treatment. The goal of my research program is to improve health outcomes for patients suffering from PIDs using a translational approach that integrates clinical and laboratory-based research methods. We aim to improve our understanding of these conditions and to identify approaches (such as screening tools) that can lead to earlier diagnosis and treatment of those suffering from PIDs.

Publications

Extended analysis of parent and child confidence in recognizing anaphylaxis and using the epinephrine autoinjector during oral food challenges.
The journal of allergy and clinical immunology. In practice
Soller L and Teoh T and Baerg I and Wong T and Hildebrand KJ and Cook VE and Biggs CM and Lee N and Yaworski L and Cameron SB and Chan ES
DOI: 10.1016/j.jaip.2018.09.025
PubMed: 30292923
10/2018

The importance of functional validation after next-generation sequencing: evaluation of a novel CARD11 variant.
Pediatric allergy and immunology : official publication of the European Society of Pediatric Allergy and Immunology
Lu HY and Sharma M and Biggs CM and Huang YH and Shopsowitz KE and Frosk P and Priatel JJ and Rubin TS and Turvey SE
DOI: 10.1111/pai.12930
PubMed: 29808493
06/2018

De novo ATP1A3 and compound heterozygous NLRP3 mutations in a child with autism spectrum disorder, episodic fatigue and somnolence, and muckle-wells syndrome.
Molecular genetics and metabolism reports
Torres A and Brownstein CA and Tembulkar SK and Graber K and Genetti C and Kleiman RJ and Sweadner KJ and Mavros C and Liu KX and Smedemark-Margulies N and Maski K and Yang E and Gonzalez-Heydrich J
DOI: 10.1016/j.ymgmr.2018.06.001
PubMed: 29922587
06/2018

Newborn screening for severe combined immunodeficiency: a primer for clinicians.
CMAJ : Canadian Medical Association journal = journal de l'Association medicale canadienne
Biggs CM and Haddad E and Issekutz TB and Roifman CM and Turvey SE
DOI: 10.1503/cmaj.170561
PubMed: 29255099
12/2017

Monogenic immune disorders and severe atopic disease.
Nature genetics
Biggs CM and Lu HY and Turvey SE
DOI: 10.1038/ng.3925
PubMed: 28747751
07/2017

Diverse Autoantibody Reactivity in Cartilage-Hair Hypoplasia.
Journal of clinical immunology
Biggs CM and Kostjukovits S and Dobbs K and Laakso S and Klemetti P and Valta H and Taskinen M and Mäkitie O and Notarangelo LD
DOI: 10.1007/s10875-017-0408-4
PubMed: 28631025
06/2017

DOCK8 deficiency: Insights into pathophysiology, clinical features and management.
Clinical immunology (Orlando, Fla.)
Biggs CM and Keles S and Chatila TA
DOI: 10.1016/j.clim.2017.06.003
PubMed: 28625885
06/2017

First Case of X-Linked Moesin Deficiency Identified After Newborn Screening for SCID.
Journal of clinical immunology
Delmonte OM and Biggs CM and Hayward A and Comeau AM and Kuehn HS and Rosenzweig SD and Notarangelo LD
DOI: 10.1007/s10875-017-0391-9
PubMed: 28378256
04/2017

Pre-diagnostic genotyping identifies T1D subjects with impaired Treg IL-2 signaling and an elevated proportion of FOXP3+IL-17+ cells.
Genes and immunity
Marwaha AK and Panagiotopoulos C and Biggs CM and Staiger S and Del Bel KL and Hirschfeld AF and Priatel JJ and Turvey SE and Tan R
DOI: 10.1038/gene.2016.44
PubMed: 28053319
01/2017

Hematopoietic stem cell transplantation outcomes for 11 patients with dedicator of cytokinesis 8 deficiency.
The Journal of allergy and clinical immunology
Al-Herz W and Chu JI and van der Spek J and Raghupathy R and Massaad MJ and Keles S and Biggs CM and Cockerton L and Chou J and Dbaibo G and Elisofon SA and Hanna-Wakim R and Kim HB and Pai SY
DOI: 10.1016/j.jaci.2016.02.022
PubMed: 27130861
04/2016

Studying patients with autoinflammatory diseases: the past, present, and a perspective for the future.
Pediatric rheumatology online journal
Hausmann J and Biggs C and Goldsmith D and Dedeoglu F
DOI: 10.1186/1546-0096-13-s1-p187
09/2015

Looking back at the diagnosis of PFAPA: a retrospecitve analysis of a prospective cohort study.
Pediatric rheumatology online journal
Hausmann J and Biggs C and Dedeoglu F
DOI: 10.1186/1546-0096-13-s1-p49
09/2015

PW02-004 - Autoinflammatory syndromes: a clinical review.
Pediatric rheumatology online journal
Biggs C and Hausmann J and Kim S and Janssen E and Nigrovic P and Fuhlbrigge R and Sundel R and Dedeoglu F
DOI: 10.1186/1546-0096-11-s1-a144
11/2013

P02-004 - AIDs in a registry of children in North America.
Pediatric rheumatology online journal
Hausmann J and Biggs C and Goldsmith D and Dedeoglu F
DOI: 10.1186/1546-0096-11-s1-a111
11/2013

Innate immune control of EBV-infected B cells by invariant natural killer T cells.
Blood
Chung BK and Tsai K and Allan LL and Zheng DJ and Nie JC and Biggs CM and Hasan MR and Kozak FK and van den Elzen P and Priatel JJ and Tan R
DOI: 10.1182/blood-2013-01-480665
PubMed: 23974196
08/2013

Inactivation of mammalian target of rapamycin increases STAT1 nuclear content and transcriptional activity in alpha4- and protein phosphatase 2A-dependent fashion.
The Journal of biological chemistry
Fielhaber JA and Han YS and Tan J and Xing S and Biggs CM and Joung KB and Kristof AS
DOI: 10.1074/jbc.M109.033530
PubMed: 19553685
06/2009

Research

Improving diagnosis and treatment for immune disorders throughout the life course
Primary immune deficiency and dysregulatory syndromes (PIDs) are a group of genetic conditions caused by abnormalities in the immune system. Those affected by PIDs may suffer from recurrent infections, cancer, as well as excessive inflammation caused by a dysregulated immune response. The broad clinical features that accompany PIDs can lead to difficulties and delays in diagnosis. Recent advancements in molecular diagnostic tools have the potential to transform outcomes for these complex conditions. Increasing access to high throughput sequencing has catapulted the discovery of monogenic immune disorders, leading to new targeted molecular therapies. Our research program aims to translate these discoveries into improved outcomes for patients affected by PIDs. Working with collaborators at the BCCHRI and both pediatric and adult hospitals, we use clinical and laboratory based research methods to improve our understanding of PIDs throughout the life course. Areas of focus include studying the clinical course and response to treatment of PIDs from birth to adulthood, developing clinical algorithms and diagnostic tools to improve screening for PIDs, and utilizing high throughput sequencing and “omics”-based tools to identify and characterize monogenic immune defects.

Transitions in care for patients with primary immunodeficiencies and immune dysregulatory syndromes
Once thought to represent uncommon disorders primarily affecting the pediatric population, it is now understood that PIDs affect a larger demographic that extends into adulthood. In addition, thanks to improvements in the management of PIDs, patients diagnosed in childhood are seeing improved survival, and thus will continue to require care in their adult lives. Having an established process to transition patients from pediatric to adult-based healthcare is critical, as this process is frequently associated with breaks in healthcare delivery that can negatively impact health outcomes. In partnership with clinical immunologists Dr. Persia Pourshahnazari and Dr. Robert Schellenberg, we recently established a primary immunodeficiency transition clinic at St. Paul’s Hospital. This is a specialized clinic for adolescents transitioning into adult care and for adults with PIDs. Through my role in this clinic and as a clinical immunologist at BC Children’s Hospital, I am interested in studying and improving the process of transitioning care for patients with PIDs. We will perform targeted research and evaluation measures to study the process of transitioning care into adult-based healthcare systems for patients with PIDs, with the goal of improving this process for our vulnerable patient population.

Grants

Michael Smith Foundation for Health Research Health Professional-Investigator Award (2019-)

AllerGen Emerging Clinician-Scientist Research Fellowship (2016-2019)

CAAIF-AllerGen Research Fellowship (2016-2018)

Primary Immune Deficiency Treatment Consortium grant for primary immune deficiencies (2016-2017)

Ruth L. Kirschstein National Research Service Award (NRSA) (2015-2016)

Honours & Awards

Faculty of Medicine Graduate Student Award: University of British Columbia (2018)

Fredrick H. Lovejoy Jr Residency. Award: Harvard Medical School & Boston Children’s Hospital (2014)

Hamber Scholarship in Medicine: University of British Columbia (2010)

Research Group Members

Anna Branch, Research Student