Overview

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.

Publications

ASXL1 deficiency causes epigenetic dysfunction, combined immunodeficiency, and EBV-associated lymphoma
Journal of Experimental Medicine
Fu, M.P. and Sharma, M. and Yousefi, P. and Merrill, S.M. and Tan, R. and Samra, S. and Setiadi, A. and Golding, L. and Modi, B.P. and Del Bel, K.L. and Deyell, R.J. and Rozmus, J. and Rehmus, W. and Hildebrand, K.J. and James, E. and Blanchard-Rohner, G. and Lin, S. and Shopsowitz, K.E. and Terry, J. and Lee, A.F. and Dr{\"o}gem{\"o}ller, B.I. and Matthews, A. and Tarailo-Graovac, M. and Sauv{\'e}, L. and Mitchell, H. and Prendiville, J.S. and MacIsaac, J.L. and Dever, K. and Lin, D.T.S. and Meijer, M. and Ross, C.J.D. and Dobson, S.R.M. and Vercauteren, S.M. and Wasserman, W.W. and van Karnebeek, C.D.M. and McKinnon, M.L. and Kobor, M.S. and Turvey, S.E. and Biggs, C.M.
DOI: 10.1084/jem.20240945
2025

Continuous versus intermittent tacrolimus for graft-versus-host disease prophylaxis in pediatric hematopoietic stem cell transplantation patients (Tic Tac)
Journal of Oncology Pharmacy Practice
Asleson, D. and Carr, R. and Rozmus, J. and Kendrick, J.
DOI: 10.1177/10781552241312925
2025

Identification of Distinct Subtypes in Immune Tolerance after Hematopoietic Cell Transplantation Using the Prospective ABLE1.0 Pediatric Study Cohort
Transplantation and Cellular Therapy
Ng, B. and Harris, A.C. and Abdossamadi, S. and Lauener, M.P. and Aubert, G. and Bajwa, R. and Bhatia, M. and Bittencourt, H. and Buxbaum, N.P. and Caywood, E.H. and Chaudhury, S. and Chewning, J.H. and Choi, S.W. and Chopek, A. and Chu, J. and Coulter, D. and Gadalla, S.M. and Hogg, R.T. and Jacobsohn, D.A. and Johnson, A.K. and Joyce, M. and Kasow, K.A. and Kent, M. and Kitko, C.L. and Lau, D. and Lawitschka, A. and Lewis, V.A. and Li, A.M. and McLaughlin, L. and Mitchell, D. and Nemecek, E.R. and Parthasarathy, V. and Pawlowska, A.B. and Pirsl, F. and Pulsipher, M.A. and Qayed, M. and Rozmus, J. and Sava?an, S. and Schechter, T. and Shenoy, S. and Suleimenova, A. and Zheng, D.J. and Ostroumov, E. and Geltink, R.I.K. and Gilman, A. and Wolff, D. and Cuvelier, G.D.E. and Schultz, K.R.
DOI: 10.1016/j.jtct.2025.09.034
2025

Expanding the molecular and phenotypic spectrum of CTLA-4 insufficiency
Pediatric Allergy and Immunology
Duke, S. and Maiarana, J. and Yousefi, P. and Burks, E. and Gerrie, S. and Setiadi, A. and Amid, A. and Boerkel, C. and Erdle, S. and Guttman, O. and Kanani, A. and Lawrence, S. and Lee, A.F. and Pourshahnazari, P. and Rayar, M. and Rozmus, J. and Schrader, D. and Sharma, M. and Shopsowitz, K.E. and Tan, R. and To, F. and Yang, C. and Hildebrand, K.J. and James, E. and Turvey, S.E. and Markle, J.G. and Biggs, C.M.
DOI: 10.1111/pai.14077
2024

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
Eissa, H. and Thakar, M.S. and Shah, A.J. and Logan, B.R. and Griffith, L.M. and Dong, H. and Parrott, R.E. and O'Reilly, R.J. and Dara, J. and Kapoor, N. and Forbes Satter, L. and Chandra, S. and Kapadia, M. and Chandrakasan, S. and Knutsen, A. and Jyonouchi, S.C. and Molinari, L. and Rayes, A. and Ebens, C.L. and Teira, P. and Dávila Saldaña, B.J. and Burroughs, L.M. and Chaudhury, S. and Chellapandian, D. and Gillio, A.P. and Goldman, F. and Malech, H.L. and DeSantes, K. and Cuvelier, G.D.E. and Rozmus, J. and Quinones, R. and Yu, L.C. and Broglie, L. and Aquino, V. and Shereck, E. and Moore, T.B. and Vander Lugt, M.T. and Mousallem, T.I. and Oved, J.H. and Dorsey, M. and Abdel-Azim, H. and Martinez, C. and Bleesing, J.H. and Prockop, S. and Kohn, D.B. and Bednarski, J.J. and Leiding, J. and Marsh, R.A. and Torgerson, T. and Notarangelo, L.D. and Pai, S.-Y. and Pulsipher, M.A. and Puck, J.M. and Dvorak, C.C. and Haddad, E. and Buckley, R.H. and Cowan, M.J. and Heimall, J.
DOI: 10.1016/j.jaci.2023.09.027
2024

Homozygous RMRP Promoter Duplications Cause Severely Reduced Transcript Abundance and SCID Associated with Cartilage Hair Hypoplasia
Journal of Clinical Immunology
Tan, R. and Lu, H.Y. and Sharma, M. and Sandhu, H. and Harris, K.C. and Cameron, S.B. and Setiadi, A. and Hildebrand, K.J. and Rozmus, J. and Turvey, S.E. and Biggs, C.M.
DOI: 10.1007/s10875-023-01489-5
2023

A multimorphic mutation in IRF4 causes human autosomal dominant combined immunodeficiency
Science Immunology
Fornes, O. and Jia, A. and Kuehn, H.S. and Min, Q. and Pannicke, U. and Schleussner, N. and Thouenon, R. and Yu, Z. and de los Angeles Astbury, M. and Biggs, C.M. and Galicchio, M. and Garcia-Campos, J.A. and Gismondi, S. and Villarreal, G.G. and Hildebrand, K.J. and Hönig, M. and Hou, J. and Moshous, D. and Pittaluga, S. and Qian, X. and Rozmus, J. and Schulz, A.S. and Staines-Boone, A.T. and Sun, B. and Sun, J. and Uwe, S. and Venegas-Montoya, E. and Wang, W. and Wang, X. and Ying, W. and Zhai, X. and Zhou, Q. and Akalin, A. and André, I. and Barth, T.F.E. and Baumann, B. and Brüstle, A. and Burgio, G. and Bustamante, J.C. and Casanova, J.-L. and Casarotto, M.G. and Cavazzana, M. and Chentout, L. and Cockburn, I.A. and Costanza, M. and Cui, C. and Daumke, O. and Del Bel, K.L. and Eibel, H. and Feng, X. and Franke, V. and Gebhardt, J.C.M. and Götz, A. and Grunwald, S. and Hoareau, B. and Hughes, T.R. and Jacobsen, E.-M. and Janz, M. and Jolma, A. and Lagresle-Peyrou, C. and Lai, N. and Li, Y. and Lin, S. and Lu, H.Y. and Lugo-Reyes, S.O. and Meng, X. and Möller, P. and Moreno-Corona, N. and Niemela, J.E. and Novakovsky, G. and Perez-Caraballo, J.J. and Picard, C. and Poggi, L. and Puig-Lombardi, M.-E. and Randall, K.L. and Reisser, A. and Schmitt, Y. and Seneviratne, S. and Sharma, M. and Stoddard, J. and Sundararaj, S. and Sutton, H. and Tran, L.Q. and Wang, Y. and Wasserman, W.W. and Wen, Z. and Winkler, W. and Xiong, E. and Yang, A.W.H. and Yu, M. and Zhang, L. and Zhang, H. and Zhao, Q. and Zhen, X. and Enders, A. and Kracker, S. and Martinez-Barricarte, R. and Mathas, S. and Rosenzweig, S.D. and Schwarz, K. and Turvey, S.E. and Wang, J.-Y.
DOI: 10.1126/sciimmunol.ade7953
2023

Planning GvHD preemptive therapy: risk factors, biomarkers, and prognostic scores
Hematology. American Society of Hematology. Education Program
Rozmus, J. and Levine, J.E. and Schultz, K.R.
DOI: 10.1182/hematology.2023000425
2023

Human ASXL1 Deficiency Causes Epigenetic Dysfunction, Combined Immunodeficiency and EBV–Associated Hodgkin Lymphoma
medRxiv
Fu, M.P. and Sharma, M. and Merrill, S.M. and Yousefi, P. and Tan, R. and Modi, B.P. and Bel, K.D. and Deyell, R.J. and Rozmus, J. and Rehmus, W. and Hildebrand, K.J. and James, E. and Blanchard-Rohner, G. and Lin, S. and Shopsowitz, K.E. and Setiadi, A. and Terry, J. and Lee, A.F. and Drögemöller, B.I. and Matthews, A. and Tarailo-Graovac, M. and Sauvé, L. and Mitchell, H. and Prendiville, J.S. and MacIsaac, J.L. and Dever, K. and Lin, D.T.S. and Meijer, M. and Ross, C.J.D. and Dobson, S.R.M. and Vercauteren, S.M. and Wasserman, W.W. and van Karnebeek, C.D.M. and McKinnon, M.L. and Kobor, M.S. and Turvey, S.E. and Biggs, C.M.
DOI: 10.1101/2023.12.20.23300096
2023

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
Thakar, M.S. and Logan, B.R. and Puck, J.M. and Dunn, E.A. and Buckley, R.H. and Cowan, M.J. and O'Reilly, R.J. and Kapoor, N. and Satter, L.F. and Pai, S.-Y. and Heimall, J. and Chandra, S. and Ebens, C.L. and Chellapandian, D. and Williams, O. and Burroughs, L.M. and Saldana, B.D. and Rayes, A. and Madden, L.M. and Chandrakasan, S. and Bednarski, J.J. and DeSantes, K.B. and Cuvelier, G.D.E. and Teira, P. and Gillio, A.P. and Eissa, H. and Knutsen, A.P. and Goldman, F.D. and Aquino, V.M. and Shereck, E.B. and Moore, T.B. and Caywood, E.H. and Lugt, M.T.V. and Rozmus, J. and Broglie, L. and Yu, L.C. and Shah, A.J. and Andolina, J.R. and Liu, X. and Parrott, R.E. and Dara, J. and Prockop, S. and Martinez, C.A. and Kapadia, M. and Jyonouchi, S.C. and Sullivan, K.E. and Bleesing, J.J. and Chaudhury, S. and Petrovic, A. and Keller, M.D. and Quigg, T.C. and Parikh, S. and Shenoy, S. and Seroogy, C. and Rubin, T. and Decaluwe, H. and Routes, J.M. and Torgerson, T.R. and Leiding, J.W. and Pulsipher, M.A. and Kohn, D.B. and Griffith, L.M. and Haddad, E. and Dvorak, C.C. and Notarangelo, L.D.
DOI: 10.1016/S0140-6736(23)00731-6
2023

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
Rozmus, J. and Bhatt, S.T. and Buxbaum, N.P. and Cuvelier, G.D.E. and Li, A.M. and Kitko, C.L. and Schultz, K.R.
DOI: 10.3389/fped.2022.796994
2022

Outcomes following treatment for ADA-deficient severe combined immunodeficiency: a report from the PIDTC
Blood
Cuvelier, G.D.E. and Logan, B.R. and Prockop, S.E. and Buckley, R.H. and Kuo, C.Y. and Griffith, L.M. and Liu, X. and Yip, A. and Hershfield, M.S. and Ayoub, P.G. and Moore, T.B. and Dorsey, M.J. and O'Reilly, R.J. and Kapoor, N. and Pai, S.-Y. and Kapadia, M. and Ebens, C.L. and Forbes Satter, L.R. and Burroughs, L.M. and Petrovic, A. and Chellapandian, D. and Heimall, J. and Shyr, D.C. and Rayes, A. and Bednarski, J.J. and Chandra, S. and Chandrakasan, S. and Gillio, A.P. and Madden, L. and Quigg, T.C. and Caywood, E.H. and Dávila Saldaña, B.J. and DeSantes, K. and Eissa, H. and Goldman, F.D. and Rozmus, J. and Shah, A.J. and Vander Lugt, M.T. and Thakar, M.S. and Parrott, R.E. and Martinez, C. and Leiding, J.W. and Torgerson, T.R. and Pulsipher, M.A. and Notarangelo, L.D. and Cowan, M.J. and Dvorak, C.C. and Haddad, E. and Puck, J.M. and Kohn, D.B.
DOI: 10.1182/blood.2022016196
2022

Human JAK1 gain of function causes dysregulated myelopoeisis and severe allergic inflammation
JCI Insight
Biggs, C.M. and Cordeiro-Santanach, A. and Prykhozhij, S.V. and Deveau, A.P. and Lin, Y. and Del Bel, K.L. and Orben, F. and Ragotte, R.J. and Saferali, A. and Mostafavi, S. and Dinh, L. and Dai, D. and Weinacht, K.G. and Dobbs, K. and de Bruin, L.O. and Sharma, M. and Tsai, K. and Priatel, J.J. and Schreiber, R.A. and Rozmus, J. and Hosking, M.C.K. and Shopsowitz, K.E. and McKinnon, M.L. and Vercauteren, S. and Seear, M. and Notarangelo, L.D. and Lynn, F.C. and Berman, J.N. and Turvey, S.E.
DOI: 10.1172/jci.insight.150849
2022

Metabolomic identification of a-ketoglutaric acid elevation in pediatric chronic graft-versus-host disease
Blood
Subburaj, D. and Ng, B. and Kariminia, A. and Abdossamadi, S. and Lauener, M. and Nemecek, E.R. and Rozmus, J. and Kharbanda, S. and Kitko, C.L. and Lewis, V.A. and Schechter-Finklestein, T. and Jacobsohn, D.A. and Harris, A.C. and Pulsipher, M.A. and Bittencourt, H. and Choi, S.W. and Caywood, E.H. and Kasow, K.A. and Bhatia, M. and Oshrine, B.R. and Coulter, D. and Chewning, J.H. and Joyce, M. and Pawlowska, A.B. and Megason, G.C. and Lawitschka, A. and Ostroumov, E. and Klein Geltink, R. and Cuvelier, G.D.E. and Schultz, K.R.
DOI: 10.1182/blood.2021013244
2022

Idiopathic splenomegaly in childhood and the spectrum of RAS-associated lymphoproliferative disease: a case report
BMC Pediatrics
Blanchard-Rohner, G. and Ragotte, R.J. and Junker, A.K. and Sharma, M. and Del Bel, K.L. and Lu, H.Y. and Erdle, S. and Chomyn, A. and Gill, H. and Tucker, L.B. and Schreiber, R.A. and Rozmus, J. and Biggs, C.M. and Hildebrand, K.J. and Wu, J. and Stockler-Ipsiroglu, S. and Turvey, S.E.
DOI: 10.1186/s12887-021-02508-3
2021

Sequential paternal haploidentical donor liver and HSCT in EPP allow discontinuation of immunosuppression post-organ transplant
Pediatric Transplantation
Malkiel, S. and Sayed, B.A. and Ng, V. and Wall, D.A. and Rozmus, J. and Schreiber, R.A. and Faytrouni, F. and Siddiqui, I. and Chiang, K.-Y. and Avitzur, Y.
DOI: 10.1111/petr.14040
2021

Monogenic Immune Diseases Provide Insights Into the Mechanisms and Treatment of Chronic Graft-Versus-Host Disease
Frontiers in Immunology
Rozmus, J.
DOI: 10.3389/fimmu.2020.574569
2021

Fluid overload and acute kidney injury in children with tumor lysis syndrome
Pediatric Blood and Cancer
Flood, K. and Rozmus, J. and Skippen, P. and Matsell, D.G. and Mammen, C.
DOI: 10.1002/pbc.29255
2021

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
Subburaj, D. and Li, A.M. and Rozmus, J. and Schultz, K.R.
DOI: 10.1038/s41409-021-01309-7
2021

“Age Related Differences in the Biology of Chronic Graft-Versus-Host Disease After Hematopoietic Stem Cell Transplantation”
Frontiers in Immunology
Cuvelier, G.D.E. and Li, A. and Drissler, S. and Kariminia, A. and Abdossamadi, S. and Rozmus, J. and Chanoine, J.-P. and Ng, B. and Mostafavi, S. and Brinkman, R.R. and Schultz, K.R.
DOI: 10.3389/fimmu.2020.571884
2020

Anhidrotic Ectodermal Dysplasia with Immunodeficiency (EDA-ID), Autosomal-Dominant
Encyclopedia of Medical Immunology Immunodeficiency Diseases
Rozmus, J.
DOI: 10.1007/978-1-4614-8678-7_45
2020

Excellent outcomes following hematopoietic cell transplantation for Wiskott-Aldrich syndrome: A PIDTC report
Blood
Burroughs, L.M. and Petrovic, A. and Brazauskas, R. and Liu, X. and Griffith, L.M. and Ochs, H.D. and Bleesing, J.J. and Edwards, S. and Dvorak, C.C. and Chaudhury, S. and Prockop, S.E. and Quinones, R. and Goldman, F.D. and Quigg, T.C. and Chandrakasan, S. and Smith, A.R. and Parikh, S. and Dávila Saldaña, B.J. and Thakar, M.S. and Phelan, R. and Shenoy, S. and Forbes, L.R. and Martinez, C. and Chellapandian, D. and Shereck, E. and Miller, H.K. and Kapoor, N. and Barnum, J.L. and Chong, H. and Shyr, D.C. and Chen, K. and Abu-Arja, R. and Shah, A.J. and Weinacht, K.G. and Moore, T.B. and Joshi, A. and DeSantes, K.B. and Gillio, A.P. and Cuvelier, G.D.E. and Keller, M.D. and Rozmus, J. and Torgerson, T. and Pulsipher, M.A. and Haddad, E. and Sullivan, K.E. and Logan, B.R. and Kohn, D.B. and Puck, J.M. and Notarangelo, L.D. and Pai, S.-Y. and Rawlings, D.J. and Cowan, M.J.
DOI: 10.1182/blood.2019002939
2020

Anhidrotic Ectodermal Dysplasia with Immunodeficiency (EDA-ID), X-linked
Encyclopedia of Medical Immunology Immunodeficiency Diseases
Rozmus, J.
DOI: 10.1007/978-1-4614-8678-7_44
2020

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
Taylor Novice and Amina Kariminia and Kate L. Del Bel and Henry Lu and Mehul Sharma and Chinten J. Lim and Jay Read and Mark Vander Lugt and Mark C. Hannibal and David O’Dwyer and Mirie Hosler and Thomas Scharnitz and Jason M Rizzo and Jennifer Zacur and John Priatel and Sayeh Abdossamadi and Alexandra Bohm and Anne Junker and Stuart E. Turvey and Kirk R. Schultz and Jacob Rozmus
DOI: 10.1007/s10875-019-00731-3
2019

Malt1 deficient mice develop osteoporosis independent of osteoclast-intrinsic effects of Malt1 deficiency
Journal of Leukocyte Biology
Monajemi, M. and Fisk, S. and Pang, Y.C.F. and Leung, J. and Menzies, S.C. and Ben-Othman, R. and Cai, B. and Kollmann, T.R. and Rozmus, J. and Sly, L.M.
DOI: 10.1002/JLB.5VMA0219-054R
2019

Comprehensive B Cell Phenotyping Profile for Chronic Graft-versus-Host Disease Diagnosis
Biology of Blood and Marrow Transplantation
Rozmus, J. and Kariminia, A. and Abdossamadi, S. and Storer, B.E. and Martin, P.J. and Lee, S.J. and Wolff, D. and Arora, M. and Cutler, C. and Schultz, K.R.
DOI: 10.1016/j.bbmt.2018.11.007
2019

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
2018

Tumor Variant Identification That Accounts for the Unique Molecular Landscape of Pediatric Malignancies
JNCI Cancer Spectrum
Lorentzian, A. and Biegel, J.A. and Ostrow, D.G. and Rolf, N. and Liu, C.-C. and Rassekh, S.R. and Deyell, R.J. and Triche, T. and Schultz, K.R. and Rozmus, J. and Reid, G.S.D. and Lim, C.J. and Lange, P.F. and Maxwell, C.A.
DOI: 10.1093/JNCICS/PKY079
2018

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
2018

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
Haematologica
Kariminia, A. and Ivison, S. and Ng, B. and Rozmus, J. and Sung, S. and Varshney, A. and Aljurf, M. and Lachance, S. and Walker, I. and Toze, C. and Lipton, J. and Lee, S.J. and Szer, J. and Doocey, R. and Lewis, I. and Smith, C. and Chaudhri, N. and Levings, M.K. and Broady, R. and Devins, G. and Szwajcer, D. and Foley, R. and Mostafavi, S. and Pavletic, S. and Wall, D.A. and Couban, S. and Panzarella, T. and Schultz, K.R.
DOI: 10.3324/haematol.2017.170928
2017

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
2017

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
06/2016

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
06/2016

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
06/2016

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
05/2016

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
04/2016

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
2016

XLF deficiency results in reduced N-nucleotide addition during V(D)J recombination
Blood
IJspeert, H. and Rozmus, J. and Schwarz, K. and Warren, R.L. and Van Zessen, D. and Holt, R.A. and Pico-Knijnenburg, I. and Simons, E. and Jerchel, I. and Wawer, A. and Lorenz, M. and Patiro?lu, T. and Akar, H.H. and Leite, R. and Verkaik, N.S. and Stubbs, A.P. and Van Gent, D.C. and Van Dongen, J.J.M. and Van Burg, M.D.
DOI: 10.1182/blood-2016-02-701029
2016

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
10/2015

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
2015

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
08/2014

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
05/2014

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
02/2014

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
11/2013

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
03/2012

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
12/2011

Biomarkers in chronic graft-versus-host disease.
Rozmus J and Schultz KR
DOI: 10.1586/ehm.11.27
PubMed: 21668397
06/2011

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
2008

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.
2007

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
01/2004

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
01/2001

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
05/1999

Growth factors and cytokines upregulate gelatinase expression in bone marrow CD34+ cells and their transmigration through reconstituted basement membrane
Blood
Janowska-Wieczorek, A. and Marquez, L.A. and Nabholtz, J.-M. and Cabuhat, M.L. and Montaño, J. and Chang, H. and Rozmus, J. and Russell, J.A. and Edwards, D.R. and Turner, A.R.
DOI: 10.1182/blood.v93.10.3379.410k09_3379_3390
1999

Research

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