Faculty profile
Maryam Vaseghi-Shanjani
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Research
Latest papers
Editorial comment on "Italian pediatric experts" consensus statement on diagnosis and management of primary atopic disorders'.
Pediatric allergy and immunology : official publication of the European Society of Pediatric Allergy and Immunology · 2026 · first author
Primary atopic disorders: inborn errors of immunity causing severe allergic disease.
Current opinion in immunology · 2025 · first author
A Germline Heterozygous Dominant Negative IKZF2 Variant Causing Syndromic Primary Immune Regulatory Disorder and ICHAD.
Journal of clinical immunology · 2025
Latest funding
- $5,000
72th Lindau Nobel Laureate Meeting Travel Award Recipient
CIHR · 2022 · Nominated PI
13 publications.
Editorial comment on "Italian pediatric experts" consensus statement on diagnosis and management of primary atopic disorders'.
Vaseghi-Shanjani M, Eigenmann P, Riggioni C, Turvey SE
Primary atopic disorders: inborn errors of immunity causing severe allergic disease.
Vaseghi-Shanjani M, Samra S, Yousefi P, Biggs CM, Turvey SE
A Germline Heterozygous Dominant Negative IKZF2 Variant Causing Syndromic Primary Immune Regulatory Disorder and ICHAD.
Lu HY, Vaseghi-Shanjani M, Lam AJ, Sharma M, Mohajeri A, Silva LBR, Gillies J, Yang GX, Lin S, Fu MP, Salman A, Rahmanian R, Armstrong L, Halparin J, Yang CL, Chilvers M, Henkelman E, Rehmus W, Morrison D, Setiadi A, Mostafavi S, Kobor MS, Kozak FK, Biggs CM, van Karnebeek C, Hildebrand KJ, Anna Lehman on behalf of the Care4Rare Canada Consortium, Levings MK, Turvey SE
A multimorphic variant in ThPOK causes an inborn error of immunity with T cell defects and fibrosis
Vaseghi-Shanjani M, Sharma M, Yousefi P, Samra S, Laverty KU, Jolma A, Razavi R, Yang AHW, Albu M, Golding L
Exome variant prioritization in a large cohort of hearing-impaired individuals indicates IKZF2 to be associated with non-syndromic hearing loss and guides future research of unsolved cases.
Velde HM, Vaseghi-Shanjani M, Smits JJ, Ramakrishnan G, Oostrik J, Wesdorp M, Astuti G, Yntema HG, Hoefsloot L, Lanting CP, Huynen MA, Lehman A, Turvey SE, DOOFNL Consortium, Pennings RJE, Kremer H
Gain-of-function MARK4 variant associates with pediatric neurodevelopmental disorder and dysmorphism.
Samra S, Sharma M, Vaseghi-Shanjani M, Del Bel KL, Byres L, Lin S, Dalmann J, Salman A, Mwenifumbo J, Modi BP, Biggs CM, Boelman C, Clarke LA, Lehman A, Turvey SE
Dominant negative variants in IKZF2 cause ICHAD syndrome, a new disorder characterised by immunodysregulation, craniofacial anomalies, hearing impairment, athelia and developmental delay.
Mohajeri A, Vaseghi-Shanjani M, Rosenfeld JA, Yang GX, Lu H, Sharma M, Lin S, Salman A, Waqas M, Sababi Azamian M, Worley KC, Del Bel KL, Kozak FK, Rahmanian R, Biggs CM, Hildebrand KJ, Lalani SR, Nicholas SK, Scott DA, Mostafavi S, van Karnebeek C, Henkelman E, Halparin J, Yang CL, Armstrong L, Undiagnosed Diseases Network, Care4Rare Canada Consortium, Turvey SE, Lehman A
Transcription factor defects in inborn errors of immunity with atopy.
Vaseghi-Shanjani M, Yousefi P, Sharma M, Samra S, Sifuentes E, Turvey SE, Biggs CM
Human germline heterozygous gain-of-function STAT6 variants cause severe allergic disease
Sharma M, Leung D, Momenilandi M, Jones LCW, Pacillo L, James AE, Murrell JR, Delafontaine S, Maimaris J, Vaseghi-Shanjani M
Atopy as Immune Dysregulation: Offender Genes and Targets.
Vaseghi-Shanjani M, Snow AL, Margolis DJ, Latrous M, Milner JD, Turvey SE, Biggs CM
72th Lindau Nobel Laureate Meeting Travel Award Recipient
Principal investigators: Vaseghi-Shanjani, Maryam
Keywords: Enzyme-Linked Immunosorbent Assay; Flow Cytometry; Immunoblotting; Inborn Errors Of Immunity; Monogenic Allergic Diseases; Quantitative Polymerase Chain Reaction; Reporter Assays; Transcriptome Analysis; Whole-Genome Association Analysis; Whole-Genome Sequencing
From CIHR, NSERC and SSHRC funding decisions: CIHR since 2008, NSERC since 1991 and SSHRC since 1998, including their latest published competition results.
Frequent collaborators
- Pediatrics
- MD/PhD Program
- Department of Medicine
- Medicine
- Other
Co-authors at University of British Columbia, colored by department. Thicker lines mean more shared papers; select anyone to open their profile and their own map.
David Allan
Department of Medicine
2 shared papers, latest 2021
Clara van Karnebeek
Pediatrics
2 shared papers, latest 2025
Sara Mostafavi
Faculty
2 shared papers, latest 2025
Carmen Riggioni
Pediatrics
1 shared papers, latest 2026
Rae Brager
Pediatrics
1 shared papers, latest 2025
Hanan Ahmed
Medicine
1 shared papers, latest 2023
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