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.


Targeted treatment of immune thrombocytopenia in CTLA-4 insufficiency: a case report
British Journal of Haematology
Chieh Min Benjamin Lai and Audi Setiadi and Angeliki Barlas and Amin Kanani and Persia Pourshahnazari and Heather A. Leitch and Daniel L. Metzger and Hayley Merkeley and Catherine M. Biggs
DOI: 10.1111/bjh.17866

Exome sequencing enables diagnosis of X-linked hypohidrotic ectodermal dysplasia in patient with eosinophilic esophagitis and severe atopy
Allergy, Asthma & Clinical Immunology
Bhavi P. Modi and Kate L. Del Bel and Susan Lin and Mehul Sharma and Phillip A. Richmond and Clara D. M. van Karnebeek and Edmond S. Chan and Vishal Avinashi and Wingfield E. Rehmus and Catherine M. Biggs and Wyeth W. Wasserman and Stuart E. Turvey
DOI: 10.1186/s13223-021-00510-z

Diverse clinical features and diagnostic delay in monogenic inborn errors of immunity: A call for access to genetic testing
Pediatric Allergy and Immunology
Anna Branch and Bhavi Modi and Bahar Bahrani and Kyla J. Hildebrand and Scott B. Cameron and Anne K. Junker and Stuart E. Turvey and Catherine M. Biggs
DOI: 10.1111/pai.13571

SARS-CoV-2-related MIS-C: A key to the viral and genetic causes of Kawasaki disease?
The Journal of experimental medicine
DOI: 10.1084/jem.20210446
PubMed: 33904890

Treatment of Multisystem Inflammatory Syndrome in Children.
The New England journal of medicine
DOI: 10.1056/nejmoa2102968
PubMed: 34133854

Soluble interleukin-6 receptor in the COVID-19 cytokine storm syndrome.
Cell reports. Medicine
DOI: 10.1016/j.xcrm.2021.100269
PubMed: 33899032

Ruxolitinib as adjunctive therapy for secondary hemophagocytic lymphohistiocytosis: a case series.
European journal of haematology
DOI: 10.1111/ejh.13593
PubMed: 33523540

Idiopathic splenomegaly in childhood and the spectrum of RAS-associated lymphoproliferative disease: a case report.
BMC pediatrics
DOI: 10.1186/s12887-021-02508-3
PubMed: 33472608

Life-Threatening COVID-19: Defective Interferons Unleash Excessive Inflammation.
Med (New York, N.Y.)
DOI: 10.1016/j.medj.2020.12.001
PubMed: 33363283

Practical Guidance for the Evaluation and Management of Drug Hypersensitivity: Specific Drugs.
The journal of allergy and clinical immunology. In practice
DOI: 10.1016/j.jaip.2020.08.006
PubMed: 33039007

Amelioration of COVID-19-related cytokine storm syndrome: parallels to chimeric antigen receptor-T cell cytokine release syndrome.
British journal of haematology
DOI: 10.1111/bjh.16961
PubMed: 32584416

Recurrent sterile abscesses in a case of X-linked neutropenia
Pediatric Dermatology
Catherine M. Biggs and Bhavi Modi and Michelle Steinraths and Kate Del Bel and Persia Pourshahnazari and Cameron Griffiths and David M. Forrest and Julie Prendiville and Jan P. Dutz and Stuart E. Turvey and Scott B. Cameron
DOI: 10.1111/pde.14146

Clinical IRAK4 deficiency caused by homozygosity for the novel IRAK4 (c.1049delG, p.Gly350Glufs*15) variant.
Cold Spring Harbor molecular case studies
DOI: 10.1101/mcs.a005298
PubMed: 32532880

Weathering the COVID-19 storm: Lessons from hematologic cytokine syndromes.
Blood reviews
DOI: 10.1016/j.blre.2020.100707
PubMed: 32425294

A Global Effort to Define the Human Genetics of Protective Immunity to SARS-CoV-2 Infection.
DOI: 10.1016/j.cell.2020.05.016
PubMed: 32405102

Heterozygous FOXN1 Variants Cause Low TRECs and Severe T Cell Lymphopenia, Revealing a Crucial Role of FOXN1 in Supporting Early Thymopoiesis.
American journal of human genetics
DOI: 10.1016/j.ajhg.2019.07.014
PubMed: 31447097

Germline CBM-opathies: From immunodeficiency to atopy.
The Journal of allergy and clinical immunology
DOI: 10.1016/j.jaci.2019.03.009
PubMed: 31060714

Calm in the midst of cytokine storm: a collaborative approach to the diagnosis and treatment of hemophagocytic lymphohistiocytosis and macrophage activation syndrome.
Pediatric rheumatology online journal
DOI: 10.1186/s12969-019-0309-6
PubMed: 30764840

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

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

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

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

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

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

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

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

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

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

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

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

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

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

Innate immune control of EBV-infected B cells by invariant natural killer T cells.
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

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


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.


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

Emma Karlsen, Clinical Research Assistant
Alison Lopez, Physician
Abigail Ngan, Summer research student
Ananya Sandhu, Clinical Research Assistant
Ryan Tan, Research Assistant