Publications

Newest first. Conference abstracts are listed separately from peer-reviewed papers and are labelled as such.

1. Unmet needs in SLC29A3-related disorders

   Jouret M, Tise CG, Mathieu AL, Gomez-Ospina N, Gernez Y, et al.. Autoimmunity Reviews, 2026.

   DOI: 10.1016/j.autrev.2026.104167 · PubMed: 42617928

   Genetic immune dysregulation

2. Genetic testing guides therapy in children with refractory cytopenias

   Gernez Y, Sathi B, Rao L, Hernandez JD, Glader B, Cepika AM, et al.. Haematologica, 2026.

   DOI: 10.3324/haematol.2025.288839 · PubMed: 41504230

   Genetic immune dysregulation

3. Racial and Ethnic Differences in Quality of Life Prior to Oral Food Challenge in Food Allergy Patients

   Jiang S, Gernez Y, Hernandez J, Kleinman S, Tran N, McGhee S. Journal of Allergy and Clinical Immunology (conference abstract), 2026. Conference abstract.

   Search PubMed for this title

   Food allergy

4. Unexpected diagnosis of WHIM syndrome in refractory autoimmune cytopenia

   Garcia-Carmona Y, Chavez JL, Gernez Y, Geyer JT, Bussel JB, Cunningham-Rundles CM. Blood Advances, 2024.

   DOI: 10.1182/bloodadvances.2024013301 · PubMed: 39028950

   Genetic immune dysregulation

5. Molecular and functional identification of unstable regulatory and autoreactive effector T cells that are expanded in patients with FOXP3 mutation

   Borna S, Lee E, Nideffer J, Ramachandran A, Wang B, Mavers M, et al.. Clinical Immunology (conference abstract), 2024. Conference abstract.

   DOI: 10.1016/j.clim.2024.110038

   FOXP3 / IPEX

6. A multidisciplinary approach to unraveling genetic forms of immune dysregulation in children with refractory multilineage cytopenia

   Gernez Y, Sathi B, Camacho JV, Rao L, Glader B, Singh D, et al.. Journal of Allergy and Clinical Immunology (conference abstract, AB186), 2024. Conference abstract.

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   Genetic immune dysregulation

7. Case report: Refractory Evans syndrome in two patients with spondyloenchondrodysplasia with immune dysregulation treated successfully with JAK1/JAK2 inhibition

   Gernez Y, Narula M, Cepika AM, Valdes Camacho J, Hoyte EG, Mouradian K, et al.. Frontiers in Immunology, 2024. Published 29 January 2024; volume 14, 2023.

   DOI: 10.3389/fimmu.2023.1328005 · PubMed: 38347954

   Genetic immune dysregulation

8. Identification of unstable regulatory and autoreactive effector T cells that are expanded in patients with FOXP3 mutations

   Borna S, Lee E, Nideffer J, Ramachandran A, Wang B, Baker J, et al.. Science Translational Medicine, 2023.

   DOI: 10.1126/scitranslmed.adg6822 · PubMed: 38117899

   FOXP3 / IPEX

9. Chronic granulomatous disease identified in the evaluation of atypical Kawasaki disease in an infant

   Solomon B, Reddy A, Konvinse K, Shah A, Gernez Y, Mony V. Clinical Immunology, 2023.

   DOI: 10.1016/j.clim.2023.109572

   Genetic immune dysregulation

10. Mimickers of Classical Urticaria: Cryopyrin-Associated Autoinflammatory Syndrome Presenting as Isolated Urticaria in an Infant

    Solomon BD, Skaljic M, Liu LY, Yan D, Sheahon KM, Broderick L, et al.. Journal of Allergy and Clinical Immunology: In Practice, 2023.

    DOI: 10.1016/j.jaip.2022.12.037 · PubMed: 36720659

    Autoinflammation

11. Epigenetic and immunological indicators of IPEX disease in subjects with FOXP3 gene mutation

    Narula M, Lakshmanan U, Borna S, Schulze JJ, Holmes TH, Harre N, et al.. Journal of Allergy and Clinical Immunology, 2022.

    DOI: 10.1016/j.jaci.2022.09.013 · PubMed: 36152823

    FOXP3 / IPEX

12. Cytotoxic T Lymphocyte Antigen 4 Haploinsufficiency Presenting As Refractory Celiac-Like Disease: Case Report

    Collen LV, Salgado CA, Bao B, Janssen E, Weir D, Goldsmith J, et al.. Frontiers in Immunology, 2022.

    DOI: 10.3389/fimmu.2022.894648 · PubMed: 35935971

    Genetic immune dysregulation

13. Immunogenicity of a third COVID-19 messenger RNA vaccine dose in primary immunodeficiency disorder patients with functional B-cell defects

    Gernez Y, Murugesan K, Cortales CR, Banaei N, Hoyte L, Pinsky BA, et al.. Journal of Allergy and Clinical Immunology: In Practice, 2022.

    DOI: 10.1016/j.jaip.2022.02.030 · PubMed: 35259538

    Primary immunodeficiency

14. Immunogenicity and tolerability of COVID-19 messenger RNA vaccines in primary immunodeficiency patients with functional B-cell defects

    Pham MN, Murugesan K, Banaei N, Pinsky BA, Tang M, Hoyte E, et al.. Journal of Allergy and Clinical Immunology, 2022.

    DOI: 10.1016/j.jaci.2021.11.022 · PubMed: 34952033

    Primary immunodeficiency

15. Masquerader of Lip Angioedema After Lip Injection

    Hsu CH, Requena L, LeBoit PE, Gernez Y. Journal of Allergy and Clinical Immunology: In Practice, 2021.

    DOI: 10.1016/j.jaip.2020.12.058 · PubMed: 33664002

    Allergy

16. Insight into the pediatric and adult dichotomy of COVID-19: Age-related differences in the immune response to SARS-CoV-2 infection

    Fialkowski A, Gernez Y, Arya P, Weinacht KG, Kinane TB, Yonker LM. Pediatric Pulmonology, 2020.

    DOI: 10.1002/ppul.24981 · PubMed: 32710693

    COVID-19

17. Dupilumab use in recalcitrant allergic fungal rhinosinusitis

    Lo RM, Liu AY, Valdez TA, Gernez Y. Annals of Allergy, Asthma & Immunology, 2020.

    DOI: 10.1016/j.anai.2020.07.014 · PubMed: 32707161

    Allergy

18. Masqueraders of angioedema after a dental procedure

    Lee IT, Arioka M, Kleinman SH, Gernez Y. Annals of Allergy, Asthma & Immunology, 2020.

    DOI: 10.1016/j.anai.2020.03.008 · PubMed: 32205197

    Allergy

19. Disseminated Pneumocystis jirovecii Infection with Osteomyelitis in a Patient with CTLA-4 Haploinsufficiency

    Siddiqi AE, Liu AY, Charville GW, Kunder CA, Uzel G, et al.. Journal of Clinical Immunology, 2020.

    DOI: 10.1007/s10875-020-00748-z · PubMed: 31955317

    Genetic immune dysregulation

20. Severe autoinflammation in 4 patients with C-terminal variants in cell division control protein 42 homolog (CDC42) successfully treated with IL-1β inhibition

    Gernez Y, de Jesus AA, Alsaleem H, Macaubas C, Roy A, Lovell D, et al.. Journal of Allergy and Clinical Immunology, 2019.

    DOI: 10.1016/j.jaci.2019.06.017 · PubMed: 31271789

    Autoinflammation

21. Resistin is elevated in cystic fibrosis sputum and correlates negatively with lung function

    Forrest OA, Chopyk DM, Gernez Y, Brown MR, Conrad CK, Moss RB, et al.. Journal of Cystic Fibrosis, 2019.

    DOI: 10.1016/j.jcf.2018.05.018 · PubMed: 29937317

    Cystic fibrosis / ABPA

22. Humoral immunodeficiencies: conferred risk of infections and benefits of immunoglobulin replacement therapy

    Gernez Y, Baker MG, Maglione PJ. Transfusion, 2018.

    DOI: 10.1111/trf.15020 · PubMed: 30536429

    Primary immunodeficiency

23. Variability in diagnosis and management of acquired cold-induced urticaria

    Gernez Y, Sicherer SH, Wang J. Journal of Allergy and Clinical Immunology: In Practice, 2018.

    DOI: 10.1016/j.jaip.2017.12.030 · PubMed: 29530343

    Allergy

24. Autosomal Dominant Hyper-IgE Syndrome in the USIDNET Registry

    Gernez Y, Freeman AF, Holland SM, Garabedian E, Patel NC, Puck JM, et al.. Journal of Allergy and Clinical Immunology: In Practice, 2018.

    DOI: 10.1016/j.jaip.2017.06.041 · PubMed: 28939137

    Primary immunodeficiency

25. Clinical and biological response to rituximab treatment in 3 patients with acquired C1-inhibitor deficiency

    Busse PJ, Gernez Y. Annals of Allergy, Asthma & Immunology, 2017.

    DOI: 10.1016/j.anai.2017.07.032 · PubMed: 28866304

    Allergy

26. Immunotherapy for Food Allergy: Are We There Yet?

    Gernez Y, Nowak-Wegrzyn A. Journal of Allergy and Clinical Immunology: In Practice, 2017.

    DOI: 10.1016/j.jaip.2016.12.004 · PubMed: 28283151

    Food allergy

27. Hemoptysis in a Patient with Elevated Immunoglobulin E

    Gernez Y, Tsuang A, Smith TD, Shahjehan K, Hui Y, Maglione PJ, et al.. Journal of Allergy and Clinical Immunology: In Practice, 2016.

    DOI: 10.1016/j.jaip.2016.08.003 · PubMed: 27693026

    Primary immunodeficiency

28. Basophil activation test determination of CD63 combined with CD203c is not superior to CD203c alone in identifying allergic bronchopulmonary aspergillosis in cystic fibrosis

    Gernez Y, Waters J, Tirouvanziam R, Herzenberg L, Moss R. Journal of Allergy and Clinical Immunology, 2016.

    DOI: 10.1016/j.jaci.2016.04.002 · PubMed: 27215492

    Cystic fibrosis / ABPA

29. Earth Mover's Distance (EMD): A True Metric for Comparing Biomarker Expression Levels in Cell Populations

    Orlova DY, Zimmerman N, Meehan S, Meehan C, Waters J, Ghosn EEB, et al.. PLOS One, 2016.

    DOI: 10.1371/journal.pone.0151859 · PubMed: 27008164

    Methods

30. Blood basophil activation is a reliable biomarker of allergic bronchopulmonary aspergillosis in cystic fibrosis

    Gernez Y, Walters J, Mirkovic B, Lavelle GM, Dunn CE, Davies ZA, et al.. European Respiratory Journal, 2016.

    DOI: 10.1183/13993003.01068-2015 · PubMed: 26585435

    Cystic fibrosis / ABPA

31. The basophil surface marker CD203c identifies Aspergillus species sensitization in patients with cystic fibrosis

    Mirkovic B, Lavelle GM, Azim AA, Helma K, Gargoum FS, Molloy K, et al.. Journal of Allergy and Clinical Immunology, 2016.

    DOI: 10.1016/j.jaci.2015.07.045 · PubMed: 26388311

    Cystic fibrosis / ABPA

32. Basophils from cystic fibrosis patients with allergic bronchopulmonary aspergillosis are primed at baseline and hyper-responsive to stimulation by aspergillus allergens

    Gernez Y, Dunn CE, Everson C, Mitsunaga E, Krasinska K, Davis ZA, et al.. Journal of Cystic Fibrosis, 2012.

    DOI: 10.1016/j.jcf.2012.04.008 · PubMed: 22608296

    Cystic fibrosis / ABPA

33. Modulation of mTOR Effector Phosphoproteins in Blood Basophils from Allergic Patients

    Gernez Y, Tirouvanziam R, Reshamwala N, Yu G, Galli SJ, Herzenberg LA, et al.. Journal of Clinical Immunology, 2012.

    DOI: 10.1007/s10875-012-9651-x · PubMed: 22350221

    Allergy

34. Immunophenotyping of Peripheral Eosinophils Demonstrates Activation in Eosinophilic Esophagitis

    Gernez Y, Nguyen T, Fuentebella J, Patel A, Tirouvanziam R, et al.. Journal of Pediatric Gastroenterology and Nutrition, 2011.

    DOI: 10.1097/MPG.0b013e318212647a · PubMed: 21694534

    Allergy

35. Basophil CD203c levels are increased at baseline and can be used to monitor omalizumab treatment in subjects with nut allergy

    Gernez Y, Tirouvanziam R, Yu G, Ghosn EEB, Reshamwala N, Nguyen T, et al.. International Archives of Allergy and Immunology, 2011.

    DOI: 10.1159/000321824 · PubMed: 20975283

    Food allergy

36. Eosinophils as Potential Antigen Presenting Cells in Eosinophilic Esophagitis

    Patel AJ, Fuentebella J, Gernez Y, Nguyen T, Bass D, Berquist W, et al.. Journal of Pediatric Gastroenterology and Nutrition, 2010.

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    Allergy

37. Neutrophils in chronic inflammatory airway diseases: can we target them and how?

    Gernez Y, Tirouvanziam R, Chanez P. European Respiratory Journal, 2010.

    DOI: 10.1183/09031936.00186109 · PubMed: 20190324

    Cystic fibrosis / ABPA

38. Activation of critical, host-induced, metabolic and stress pathways marks neutrophil entry into cystic fibrosis lungs

    Makam M, Diaz D, Laval J, Gernez Y, Conrad CK, Dunn CE, et al.. Proceedings of the National Academy of Sciences USA, 2009.

    DOI: 10.1073/pnas.0813410106 · PubMed: 19293384

    Cystic fibrosis / ABPA

39. Profound functional and signaling changes in viable inflammatory neutrophils homing to cystic fibrosis airways

    Tirouvanziam R, Gernez Y, Conrad CK, Moss RB, Schrijver I, Dunn CE, et al.. Proceedings of the National Academy of Sciences USA, 2008.

    DOI: 10.1073/pnas.0712386105 · PubMed: 18334635

    Cystic fibrosis / ABPA

40. A rare cause of stridor in a 59 year old woman in intensive care

    Gernez Y, Breen D, Peloni JM, Meric B, Dutau H. Revue des Maladies Respiratoires, 2008.

    DOI: 10.1019/200720293 · PubMed: 18946415

    Pulmonary

41. Altered phosphorylated signal transducer and activator of transcription profile of CD4(+) CD161(+) T cells in asthma: modulation by allergic status and oral corticosteroids

    Gernez Y, Tirouvanziam R, Nguyen KD, Herzenberg LA, Krensky AM, Nadeau KC. Journal of Allergy and Clinical Immunology, 2007.

    DOI: 10.1016/j.jaci.2007.08.012 · PubMed: 17919711

    Allergy

42. Phospho-FACS: a powerful tool for exploring intracellular transduction cascades

    Gernez Y, Herzenberg LA, Tirouvanziam R. Revue des Maladies Respiratoires, 2007.

    DOI: 10.1019/20072001118 · PubMed: 18033184

    Methods

43. A contributive result of open-lung biopsy improves survival in acute respiratory distress syndrome patients

    Papazian L, Doddoli C, Chetaille B, Gernez Y, Zandotti C, Thirion X, et al.. Critical Care Medicine, 2007.

    DOI: 10.1097/01.CCM.0000257325.88144.30 · PubMed: 17255856

    Pulmonary

44. Hypersensitivity to carboplatin. An effect of generic drugs?

    Gernez Y, Barlesi F, Astoul P, Magnan A. Revue des Maladies Respiratoires, 2006.

    DOI: 10.1019/200530242 · PubMed: 16788528

    Allergy

45. Acute respiratory distress syndrome following inhalation of barium sulfate

    Gernez Y, Barlesi F, Doddoli C, Chetaille B, Forel JM, Papazian L, Astoul P. Revue des Maladies Respiratoires, 2005.

    DOI: 10.1019/200530014 · PubMed: 16227934

    Pulmonary

For my complete, authoritative list, see Stanford Profiles and PubMed.