Filaggrinopathies—Flg/Flg2: Diagnostic Complexities and Immunotherapy

Filaggrinopathies—Flg/Flg2: Diagnostic Complexities and Immunotherapy Publisher

Nouri Z¹ ; Biglari S^{1, 2} ; Tabatabaiefar MA² ; Vahidnezhad F³ ; Hozhabrpour A⁴ ; March ME¹ ; Margolis DJ⁵ ; Gudjonsson JE⁶ ; Hakonarson H^{1, 7, 8} ; Vahidnezhad H^{1, 5, 7, 8}

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1. Center for Applied Genomics, Children's Hospital of Philadelphia, Philadelphia, PA, United States
2. Department of Genetics and Molecular Biology, Isfahan University of Medical Sciences, Isfahan, Iran
3. Department of Computer Science and Engineering Technology, University of Maryland Eastern Shore, Princess Anne, MD, United States
4. Antimicrobial Resistance Research Center, Institute of Immunology and Infectious disease, Iran University of Medical Sciences, Tehran, Iran
5. Department of Dermatology, University of Pennsylvania Perelman School of Medicine, Philadelphia, PA, United States
6. Department of Dermatology, University of Michigan, Ann Arbor, MI, United States
7. Division of Human Genetics, Children's Hospital of Philadelphia, Philadelphia, PA, United States
8. Department of Pediatrics, University of Pennsylvania Perelman School of Medicine, Philadelphia, PA, United States

Source: Journal of Investigative Dermatology Published:2025

Abstract

FLG and FLG2 proteins are expressed in the outer layers of the epidermis, where they are vital in epidermal differentiation and skin barrier formation. Filaggrinopathies involving dysfunctions in these proteins are associated with a spectrum of phenotypic presentations, from monogenic to multifactorial conditions. This review examines biosynthesis and function of FLG and FLG2 proteins and evaluates their molecular pathogenesis in filaggrinopathies. Moreover, genotype–phenotype correlations are assessed, emphasizing genetic diagnosis complexities and diverse immune dysregulation patterns. Finally, it examines ongoing immunotherapeutic approaches by targeting different cytokines as promising treatment options for filaggrinopathies management. © 2024 The Authors

Style	Citing Format
MLA	Nouri Z, et al.. "Filaggrinopathies—Flg/Flg2: Diagnostic Complexities and Immunotherapy." Journal of Investigative Dermatology, vol. , no. , 2025, pp. -.
APA	Nouri Z, Biglari S, Tabatabaiefar MA, Vahidnezhad F, Hozhabrpour A, March ME, Margolis DJ, Gudjonsson JE, Hakonarson H, Vahidnezhad H (2025). Filaggrinopathies—Flg/Flg2: Diagnostic Complexities and Immunotherapy. Journal of Investigative Dermatology, (), -.
Chicago	Nouri Z, Biglari S, Tabatabaiefar MA, Vahidnezhad F, Hozhabrpour A, March ME, Margolis DJ, Gudjonsson JE, Hakonarson H, Vahidnezhad H. "Filaggrinopathies—Flg/Flg2: Diagnostic Complexities and Immunotherapy." Journal of Investigative Dermatology , no. (2025): -.
Harvard	Nouri Z et al. (2025) 'Filaggrinopathies—Flg/Flg2: Diagnostic Complexities and Immunotherapy', Journal of Investigative Dermatology, (), pp. -.
Vancouver	Nouri Z, Biglari S, Tabatabaiefar MA, Vahidnezhad F, Hozhabrpour A, March ME, et al.. Filaggrinopathies—Flg/Flg2: Diagnostic Complexities and Immunotherapy. Journal of Investigative Dermatology. 2025;():-.
BibTex	@article{ author = {Nouri Z and Biglari S and Tabatabaiefar MA and Vahidnezhad F and Hozhabrpour A and March ME and Margolis DJ and Gudjonsson JE and Hakonarson H and Vahidnezhad H}, title = {Filaggrinopathies—Flg/Flg2: Diagnostic Complexities and Immunotherapy}, journal = {Journal of Investigative Dermatology}, volume = {}, number = {}, pages = {-}, year = {2025} }
RIS	TY - JOUR AU - Nouri Z AU - Biglari S AU - Tabatabaiefar MA AU - Vahidnezhad F AU - Hozhabrpour A AU - March ME AU - Margolis DJ AU - Gudjonsson JE AU - Hakonarson H AU - Vahidnezhad H TI - Filaggrinopathies—Flg/Flg2: Diagnostic Complexities and Immunotherapy JO - Journal of Investigative Dermatology VL - IS - SP - EP - PY - 2025 ER -

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Abstract