Faculty profile
Isabel Fernandez
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Read how they describe their research on their Université de Montréal profile.
Latest papers
Prime Editing for p47phox-Deficient Chronic Granulomatous Disease.
The New England journal of medicine · 2026
NOX2 deficiency enhances priming and activation of the NLRP3 inflammasome.
The Journal of allergy and clinical immunology · 2026
Case Report: Characterization of a RAC2 R68W homozygous activating mutation causing combined immune deficiency.
Frontiers in immunology · 2026
Latest funding
- $100,000
Next generation sequencing approaches for functional characterization of undefined primary immune deficiencies
CIHR · 2011 · Co-investigator
9 publications.
Prime Editing for p47phox-Deficient Chronic Granulomatous Disease.
Gori JL, Haddad E, Frangoul H, Kohn DB, Morris EC, Martin BN, Deary BA, Nickerson M, Scholz RL, Fernandez I, Leveille K, De Ravin SS, Kang EM, Pierzynski M, Estwick T, Littel P, Kuhns DB, Long Priel DA, Teira P, Turvey S, Arnold J, Evans MD, McManus M, Carpenter B, Waterman DP, Anzalone AV, Petrusich A, Osuna CE, O'Malley TT, Stewart-Ornstein J, Heath JM, Nehilla BJ, Asmal M, Malech HL
NOX2 deficiency enhances priming and activation of the NLRP3 inflammasome.
Monjarret B, Shour S, Stanga D, Benyoucef A, Heckel E, Marchitto L, Leiding JW, Cros G, Fernandez I, Joyal JS, Touzot F
Case Report: Characterization of a RAC2 R68W homozygous activating mutation causing combined immune deficiency.
Desjardins A, Marois L, Donkó Á, Cros G, Bédard MA, Paul ML, Hsu AP, Darbinian E, Gosse G, Leto TL, Chapdelaine H, Massé C, Fernandez I, Touzot F, Sebajang H, Falcone EL
Functional stratification of MEFV variants by flow cytometric assessment of pyrin inflammasome activation.
Monjarret B, Fernandez I, Morin MP, Labrosse R, Samaan K, Barsalou J, Leveillé K, Martin C, Fabié A, Cros G, Haddad E, De Bruycker JJ, Touzot F
Chronic granulomatous disease presenting at age 52 with fulminant mulch pneumonitis
Louis Marois, David Drouin, Charles Leduc, Isabel Fernández, H. Manganas, Géraldine Gosse, Hugo Chapdelaine, Guilhem Cros, Emilia Liana Falcone
Very Early-Onset Inflammatory Manifestations of X-Linked Chronic Granulomatous Disease.
Labrosse R, Abou-Diab J, Blincoe A, Cros G, Luu TM, Deslandres C, Dirks M, Fazilleau L, Ovetchkine P, Teira P, LeDeist F, Fernandez I, Touzot F, Decaluwe H, Halac U, Haddad E
Multiple intestinal atresia with combined immune deficiency related to TTC7A defect is a multiorgan pathology: study of a French-Canadian-based cohort.
Fernandez I, Patey N, Marchand V, Birlea M, Maranda B, Haddad E, Decaluwe H, Le Deist F
Invasive group A Streptococcus disease in French-Canadian children is not associated with a defect in MyD88/IRAK4-pathway.
Fernandez I, Brito RM, Bidet P, Rallu F, Laferrière C, Ovetchkine P, Le Deist F
Exome sequencing identifies mutations in the gene TTC7A in French-Canadian cases with hereditary multiple intestinal atresia.
Samuels ME, Majewski J, Alirezaie N, Fernandez I, Casals F, Patey N, Decaluwe H, Gosselin I, Haddad E, Hodgkinson A, Idaghdour Y, Marchand V, Michaud JL, Rodrigue MA, Desjardins S, Dubois S, Le Deist F, Awadalla P, Raymond V, Maranda B
Next generation sequencing approaches for functional characterization of undefined primary immune deficiencies
Principal investigators: Awadalla, Philip; Haddad, Elie; Le Deist, Francoise L
Keywords: Exome Sequencing; Genomics; Primary Immunodeficiency; Rnaseq; Transcriptomics
From public funding decisions: CIHR since 2008, NSERC since 1991 and SSHRC since 1998 with their latest competition results, the Canada Foundation for Innovation, Genome Canada, the Canadian Space Agency, Canada Research Chairs, the Fonds de recherche du Québec, Ontario research funding, Michael Smith Health Research BC, the Canadian Cancer Society, Heart & Stroke and Brain Canada.
Frequent collaborators
- Elie Haddad and Hélène Decaluwe: 26 shared papers
- Elie Haddad and Stuart Turvey: 13 shared papers
- Hugo Chapdelaine and Guilhem Cros: 6 shared papers
- Elie Haddad and Isabel Fernandez: 5 shared papers
- Isabel Fernandez and Guilhem Cros: 5 shared papers
- Elie Haddad and Hugo Chapdelaine: 3 shared papers
- Elie Haddad and Guilhem Cros: 3 shared papers
- Hélène Decaluwe and Isabel Fernandez: 3 shared papers
- Elie Haddad and Jean-Sébastien Joyal: 2 shared papers
- Elie Haddad and Philip Awadalla: 2 shared papers
- Hélène Decaluwe and Hugo Chapdelaine: 2 shared papers
- Jacek Majewski and Philip Awadalla: 2 shared papers
- Isabel Fernandez and Hugo Chapdelaine: 2 shared papers
- Elie Haddad and Jacek Majewski: 1 shared paper
- Elie Haddad and Bruno Maranda: 1 shared paper
- Hélène Decaluwe and Stuart Turvey: 1 shared paper
- Hélène Decaluwe and Jacek Majewski: 1 shared paper
- Hélène Decaluwe and Philip Awadalla: 1 shared paper
- Hélène Decaluwe and Bruno Maranda: 1 shared paper
- Stuart Turvey and Isabel Fernandez: 1 shared paper
- Jean-Sébastien Joyal and Bruno Maranda: 1 shared paper
- Jean-Sébastien Joyal and Isabel Fernandez: 1 shared paper
- Jacek Majewski and Isabel Fernandez: 1 shared paper
- Philip Awadalla and Isabel Fernandez: 1 shared paper
- Bruno Maranda and Isabel Fernandez: 1 shared paper
- Isabel Fernandez and Fabien Rallu: 1 shared paper
- Isabel Fernandez and Charles Leduc: 1 shared paper
- Hugo Chapdelaine and Charles Leduc: 1 shared paper
- Guilhem Cros and Charles Leduc: 1 shared paper
- Département de pédiatrie
- Département de microbiologie, infectiologie et immunologie
- Département de médecine
- FMSS Département de pédiatrie
- Département de pathologie et biologie cellulaire
- Department of Human Genetics
- Occupational and Environmental Health
- Other
Co-authors at Université de Montréal, colored by department. Thicker lines mean more shared papers; select anyone to open their profile and their own map.
Guilhem Cros
Département de médecine
5 shared papers, latest 2026
Elie Haddad
Département de pédiatrie
5 shared papers, latest 2026
Fabien Touzot
Microbiologie et immunologie
4 shared papers, latest 2026
Hélène Decaluwe
Département de pédiatrie
3 shared papers, latest 2017
Hugo Chapdelaine
Département de médecine
2 shared papers, latest 2026
Fabien Rallu
Département de microbiologie, infectiologie et immunologie
1 shared papers, latest 2014
Charles Leduc
Département de pathologie et biologie cellulaire
1 shared papers, latest 2022
Jean-Sébastien Joyal
Département de pédiatrie
1 shared papers, latest 2026
Jacek Majewski
Department of Human Genetics
1 shared papers, latest 2013
Philip Awadalla
Occupational and Environmental Health
1 shared papers, latest 2013
Bruno Maranda
FMSS Département de pédiatrie
1 shared papers, latest 2014
Stuart Turvey
Faculty
1 shared papers, latest 2026
Jacques Michaud
Pediatrics
1 shared papers, latest 2013
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Profile data last refreshed on September 29, 2026 from the university directory, publication records and public research funding records.