Research in my laboratory seeks to discover the cause of disease in children with rare and previously undiagnosed genetic problems with their blood cells (hematopoietic system), including platelets, red and white blood cells that often present as immune defects or cancer. This new understanding will provide us with novel insights into the normal function of the hematopoietic system and help us better understand what's wrong with cancer cells leading eventually to new therapies.


Expanding the molecular and phenotypic spectrum of CTLA-4 insufficiency
Pediatric Allergy and Immunology
DOI: 10.1111/pai.14077

Posttransplantation late complications increase over time for patients with SCID: A Primary Immune Deficiency Treatment Consortium (PIDTC) landmark study
Journal of Allergy and Clinical Immunology
DOI: 10.1016/j.jaci.2023.09.027

Planning GvHD preemptive therapy: risk factors, biomarkers, and prognostic scores
Jacob Rozmus and John E. Levine and Kirk R. Schultz
DOI: 10.1182/hematology.2023000425

Homozygous RMRP Promoter Duplications Cause Severely Reduced Transcript Abundance and SCID Associated with Cartilage Hair Hypoplasia
Journal of Clinical Immunology
DOI: 10.1007/s10875-023-01489-5

A multimorphic mutation in IRF4 causes human autosomal dominant combined immunodeficiency
Science Immunology
DOI: 10.1126/sciimmunol.ade7953

Human ASXL1 Deficiency Causes Epigenetic Dysfunction, Combined Immunodeficiency and EBV–Associated Hodgkin Lymphoma
DOI: 10.1101/2023.12.20.23300096

Measuring the effect of newborn screening on survival after haematopoietic cell transplantation for severe combined immunodeficiency: a 36-year longitudinal study from the Primary Immune Deficiency Treatment Consortium
The Lancet
DOI: 10.1016/S0140-6736(23)00731-6

Metabolomic identification of a-ketoglutaric acid elevation in pediatric chronic graft-versus-host disease
DOI: 10.1182/blood.2021013244

Is It Possible to Separate the Graft-Versus-Leukemia (GVL) Effect Against B Cell Acute Lymphoblastic Leukemia From Graft-Versus-Host Disease (GVHD) After Hematopoietic Cell Transplant?
Frontiers in Pediatrics
DOI: 10.3389/fped.2022.796994

Human JAK1 gain of function causes dysregulated myelopoeisis and severe allergic inflammation
JCI Insight
DOI: 10.1172/jci.insight.150849

Outcomes following treatment for ADA-deficient severe combined immunodeficiency: a report from the PIDTC
DOI: 10.1182/blood.2022016196

Successful rescue transplant for children with primary graft failure using early intervention with a single day preparative regimen and related haploidentical donor
Bone Marrow Transplantation
DOI: 10.1038/s41409-021-01309-7

Sequential paternal haploidentical donor liver and HSCT in EPP allow discontinuation of immunosuppression post-organ transplant
Pediatric Transplantation
DOI: 10.1111/petr.14040

Fluid overload and acute kidney injury in children with tumor lysis syndrome
Pediatric Blood and Cancer
DOI: 10.1002/pbc.29255

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

Monogenic Immune Diseases Provide Insights Into the Mechanisms and Treatment of Chronic Graft-Versus-Host Disease
Frontiers in Immunology
DOI: 10.3389/fimmu.2020.574569

A Germline Mutation in the C2 Domain of PLC¿2 Associated with Gain-of-Function Expands the Phenotype for PLCG2-Related Diseases
Journal of Clinical Immunology
DOI: 10.1007/s10875-019-00731-3

“Age Related Differences in the Biology of Chronic Graft-Versus-Host Disease After Hematopoietic Stem Cell Transplantation”
Frontiers in Immunology
DOI: 10.3389/fimmu.2020.571884

Excellent outcomes following hematopoietic cell transplantation for Wiskott-Aldrich syndrome: A PIDTC report
DOI: 10.1182/blood.2019002939

Comprehensive B Cell Phenotyping Profile for Chronic Graft-versus-Host Disease Diagnosis
Biology of Blood and Marrow Transplantation
DOI: 10.1016/j.bbmt.2018.11.007

Malt1 deficient mice develop osteoporosis independent of osteoclast-intrinsic effects of Malt1 deficiency
Journal of Leukocyte Biology
DOI: 10.1002/JLB.5VMA0219-054R

Tumor Variant Identification That Accounts for the Unique Molecular Landscape of Pediatric Malignancies
JNCI Cancer Spectrum
DOI: 10.1093/JNCICS/PKY079

C-terminal truncation of IFN-¿ inhibits proinflammatory macrophage responses and is deficient in autoimmune disease
Nature Communications
Dufour, A. and Bellac, C.L. and Eckhard, U. and Solis, N. and Klein, T. and Kappelhoff, R. and Fortelny, N. and Jobin, P. and Rozmus, J. and Mark, J. and Pavlidis, P. and Dive, V. and Barbour, S.J. and Overall, C.M.
DOI: 10.1038/s41467-018-04717-4

Higher levels of free plasma mitochondrial DNA are associated with the onset of chronic GvHD
Bone Marrow Transplantation
Rozmus, J. and Ivison, S. and Kariminia, A. and Leung, V.M. and Sung, S. and Subrt, P. and Lee, S.J. and Boilard, E. and Walker, I. and Foley, R. and Lipton, J. and Gallagher, G. and Couban, S. and Schultz, K.R.
DOI: 10.1038/s41409-018-0156-y

Y-box-binding protein 1 contributes to IL-7-Mediated survival signaling in B-cell precursor acute lymphoblastic leukemia
Oncology Letters
Kariminia, A. and Ivison, S.M. and Leung, V.M. and Sung, S. and Couto, N. and Rozmus, J. and Rolf, N. and Narendran, A. and Dunn, S.E. and Reid, G.S.D. and Schultz, K.R.
DOI: 10.3892/ol.2016.5437

CD56 bright natural killer regulatory cells in filgrastim primed donor blood or marrow products regulate chronic graft-versus-host disease: The Canadian blood and marrow transplant group randomized 0601 study results
DOI: 10.3324/haematol.2017.170928

XLF deficiency results in reduced N-nucleotide addition during V(D)J recombination.
IJspeert H and Rozmus J and Schwarz K and Warren RL and van Zessen D and Holt RA and Pico-Knijnenburg I and Simons E and Jerchel I and Wawer A and Lorenz M and Patiroglu T and Akar HH and Leite R and Verkaik NS and Stubbs AP and van Gent DC and van Dongen JJ and van der Burg M
PubMed: 27281794

Heterogeneity of chronic graft-versus-host disease biomarkers: association with CXCL10 and CXCR3+ NK cells.
Kariminia A and Holtan SG and Ivison S and Rozmus J and Hebert MJ and Martin PJ and Lee SJ and Wolff D and Subrt P and Abdossamadi S and Sung S and Storek J and Levings M and Aljurf M and Arora M and Cutler C and Gallagher G and Kuruvilla J and Lipton J and Nevill TJ
DOI: 10.1182/blood-2015-09-668251
PubMed: 27020088

Exome Sequencing and the Management of Neurometabolic Disorders.
Tarailo-Graovac M and Shyr C and Ross CJ and Horvath GA and Salvarinova R and Ye XC and Zhang LH and Bhavsar AP and Lee JJ and Drögemöller BI and Abdelsayed M and Alfadhel M and Armstrong L and Baumgartner MR and Burda P and Connolly MB and Cameron J and Demos M and Dewan T and Dionne J
DOI: 10.1056/NEJMoa1515792
PubMed: 27276562

NANS-mediated synthesis of sialic acid is required for brain and skeletal development.
van Karnebeek CD and Bonafé L and Wen XY and Tarailo-Graovac M and Balzano S and Royer-Bertrand B and Ashikov A and Garavelli L and Mammi I and Turolla L and Breen C and Donnai D and Cormier V and Heron D and Nishimura G and Uchikawa S and Campos-Xavier B and Rossi A and Hennet T and Brand-Arzamendi K
DOI: 10.1038/ng.3578
PubMed: 27213289

Successful clinical treatment and functional immunological normalization of human MALT1 deficiency following hematopoietic stem cell transplantation.
Rozmus J and McDonald R and Fung SY and Del Bel KL and Roden J and Senger C and Schultz KR and McKinnon ML and Davis J and Turvey SE
DOI: 10.1016/j.clim.2016.04.011
PubMed: 27109639

Successful umbilical cord blood hematopoietic stem cell transplantation in pediatric patients with MDS/AML associated with underlying GATA2 mutations: two case reports and review of literature
Pediatric Transplantation
Mallhi, K. and Dix, D.B. and Niederhoffer, K.Y. and Armstrong, L. and Rozmus, J.
DOI: 10.1111/petr.12764

XLF deficiency results in reduced N-nucleotide addition during V(D)J recombination
DOI: 10.1182/blood-2016-02-701029

Functional hyposplenism after hematopoietic stem cell transplantation.
Rozmus J and Mallhi K and Ke J and Schultz KR
DOI: 10.1038/bmt.2015.160
PubMed: 26168071

The genotypic and phenotypic spectrum of PIGA deficiency.
Tarailo-Graovac M and Sinclair G and Stockler-Ipsiroglu S and Van Allen M and Rozmus J and Shyr C and Biancheri R and Oh T and Sayson B and Lafek M and Ross CJ and Robinson WP and Wasserman WW and Rossi A and van Karnebeek CD
DOI: 10.1186/s13023-015-0243-8
PubMed: 25885527

The CARD11-BCL10-MALT1 (CBM) signalosome complex: Stepping into the limelight of human primary immunodeficiency.
Turvey SE and Durandy A and Fischer A and Fung SY and Geha RS and Gewies A and Giese T and Greil J and Keller B and McKinnon ML and Neven B and Rozmus J and Ruland J and Snow AL and Stepensky P and Warnatz K
DOI: 10.1016/j.jaci.2014.06.015
PubMed: 25087226

Combined immunodeficiency associated with homozygous MALT1 mutations.
McKinnon ML and Rozmus J and Fung SY and Hirschfeld AF and Del Bel KL and Thomas L and Marr N and Martin SD and Marwaha AK and Priatel JJ and Tan R and Senger C and Tsang A and Prendiville J and Junker AK and Seear M and Schultz KR and Sly LM and Holt RA and Patel MS
DOI: 10.1016/j.jaci.2013.10.045
PubMed: 24332264

Primary Immune Deficiency Treatment Consortium (PIDTC) report.
Griffith LM and Cowan MJ and Notarangelo LD and Kohn DB and Puck JM and Pai SY and Ballard B and Bauer SC and Bleesing JJ and Boyle M and Brower A and Buckley RH and van der Burg M and Burroughs LM and Candotti F and Cant AJ and Chatila T and Cunningham-Rundles C and Dinauer MC and Dvorak CC
DOI: 10.1016/j.jaci.2013.07.052
PubMed: 24139498

Severe combined immunodeficiency (SCID) in Canadian children: a national surveillance study.
Rozmus J and Junker A and Thibodeau ML and Grenier D and Turvey SE and Yacoub W and Embree J and Haddad E and Langley JM and Ramsingh RM and Singh VA and Long R and Schultz KR
DOI: 10.1007/s10875-013-9952-8
PubMed: 24122030

Multiple persistent ganglioneuromas likely arising from the spontaneous maturation of metastatic neuroblastoma.
Rozmus J and Langer M and Murphy JJ and Dix D
DOI: 10.1097/MPH.0b013e318221ca82
PubMed: 22052163

Early and late extensive chronic graft-versus-host disease in children is characterized by different Th1/Th2 cytokine profiles: findings of the Children's Oncology Group Study ASCT0031.
Rozmus J and Schultz KR and Wynne K and Kariminia A and Satyanarayana P and Krailo M and Grupp SA and Gilman AL and Goldman FD
DOI: 10.1016/j.bbmt.2011.05.011
PubMed: 21669298

Biomarkers in chronic graft-versus-host disease.
Rozmus J and Schultz KR
DOI: 10.1586/ehm.11.27
PubMed: 21668397

3-year results of a collaborative school-based oral health program in a remote First Nations community.
Rural and remote health

3-year results of a collaborative school-based oral health program in a remote First Nations community.
Macnab AJ and Rozmus J and Benton D and Gagnon FA
PubMed: 18444770

3-year results of a collaborative school-based oral health program in a remote First Nations community.
Macnab AJ and Rozmus J and Benton D and Gagnon FA
PubMed: 18444770

Diabetes screening of children in a remote First Nations community on the west coast of Canada: challenges and solutions.
Rural and remote health
Panagiotopoulos, C. and Rozmus, J. and Gagnon, R.E. and Macnab, A.J.

Somatic activation of oncogenic Kras in hematopoietic cells initiates a rapidly fatal myeloproliferative disorder.
Braun BS and Tuveson DA and Kong N and Le DT and Kogan SC and Rozmus J and Le Beau MM and Jacks TE and Shannon KM
DOI: 10.1073/pnas.0307203101
PubMed: 14699048

Herpes simplex virus triggers and then disarms a host antiviral response.
Mossman KL and Macgregor PF and Rozmus JJ and Goryachev AB and Edwards AM and Smiley JR
DOI: 10.1128/JVI.75.2.750-758.2001
PubMed: 11134288

Growth factors and cytokines upregulate gelatinase expression in bone marrow CD34(+) cells and their transmigration through reconstituted basement membrane.
Janowska-Wieczorek A and Marquez LA and Nabholtz JM and Cabuhat ML and Montaño J and Chang H and Rozmus J and Russell JA and Edwards DR and Turner AR
PubMed: 10233890

Growth factors and cytokines upregulate gelatinase expression in bone marrow CD34+ cells and their transmigration through reconstituted basement membrane
DOI: 10.1182/blood.v93.10.3379.410k09_3379_3390


current projects
3. Determining the mechanism of A-kinase anchor protein (AKAPs) dysfunction in undiagnosed familial thrombocytopenia syndromes

current projects
2. Understanding the molecular cause and pathophysiology of systemic capillary leak syndrome in children

Current project
The role of sumoylation in immune cell function: Sumoylation is a post-translational modification involving the addition of SUMO (small ubiquitin-like modifiers) groups that regulate protein function. This modification plays an important role in a wide range of cellular processes including protein stability, nuclear-cytosolic transport, apoptosis and cell cycle progression. We have identifed a number of rare disease patients with defects in sumoylation pathways that present with abnormal immune cell function, defective hematopoiesis and blood cancers. Studying their defects has provided novel insights into how sumoylation regulates immunity and hematopoiesis.

Honours & Awards

Best Oral Abstract Presentation Award, CBMTG 2016 Annual Conference, Vancouver, Canada; 2016

Canadian Child Health Clinician Scientist Program (CCHCSP) Predoctoral Award, 2012

Vanier Canada Graduate Scholarship, 2012

Primary Immune Deficiency Transplant Consortium (PIDTC) Fellowship Award, 2011

Senior Resident Award for Excellence in Pediatrics, Dept. of Pediatrics, BC Children's Hospital 2007-2008

Participant in the Clinical Immunology Society's (CIS) School in Primary Immunodeficiency Diseases, September 2010

Reach for the Top Prize for best abstract at 85th Canadian Pediatric Society annual conference (Victoria, BC), 2008

CIHR Fellowship (Health Professional), 2012

Award of Distinction, Family Centred Care Awards from Partners in Care Family Advisory at BC Children's Hospital, 2008

Award of Excellence for Contribution to the Diabetic Screening Project in BC First Nations Children, June 2008

American Pediatric Society and Society for Pediatric Research Studentship at University of California, San Francisco (Hematopoietic Progenitor Cell Research), 2003

UBC Four Year Fellowship Graduate Award, 2010

UBC Clinician Investigator Program Research Day, Best Poster Presentation Award, 2012

UBC Faculty of Medicine Graduate Award, 2010

Research Group Members

Verena Goebeler, Research Assistant