Neutrophilic dermatosis in a patient with an IKZF1 variant and a review of monogenic autoinflammatory disorders presenting with neutrophilic dermatoses

Justina Guirguis; Sonia Iosim; Derek Jones; Maryel Likhite; Fei Chen; Chimene Kesserwan; Tatyana Gindin; Philip J Kahn; David Beck; Vikash S Oza; Kirsty Hillier

doi:10.1111/pde.15566

Neutrophilic dermatosis in a patient with an IKZF1 variant and a review of monogenic autoinflammatory disorders presenting with neutrophilic dermatoses

Pediatr Dermatol. 2024 Feb 27. doi: 10.1111/pde.15566. Online ahead of print.

Authors

Affiliations

¹ Department of Dermatology, The Ronald O. Perelman Department of Dermatology, NYU Grossman School of Medicine, New York, New York, USA.
² Department of Pediatrics, Hassenfeld Children's Hospital at NYU Langone Health, NYU Grossman School of Medicine, New York, New York, USA.
³ Department of Pathology, NYU Grossman School of Medicine, New York, New York, USA.
⁴ Center for Human Genetics and Genomics, NYU Grossman School of Medicine, New York, New York, USA.
⁵ Department of Pathology, NYU Langone Health, New York, New York, USA.
⁶ Department of Pediatrics, Division of Pediatric Rheumatology, Hassenfeld Children's Hospital at NYU Langone Health, NYU Grossman School of Medicine, New York, New York, USA.
⁷ Division of Rheumatology, Department of Medicine, New York University Grossman School of Medicine, New York, NY 10016, USA; Center for Human Genetics and Genomics, New York University Grossman School of Medicine, New York, New York, USA.
⁸ Department of Dermatology and Pediatrics, The Ronald O. Perelman Department of Dermatology, NYU Grossman School of Medicine, New York, New York, USA.
⁹ Department of Pediatrics, Division of Pediatric Hematology-Oncology, Hassenfeld Children's Hospital at NYU Langone Health, NYU Grossman School of Medicine, New York, New York, USA.

PMID: 38413050
DOI: 10.1111/pde.15566

Abstract

Monogenic diseases of immune dysregulation should be considered in the evaluation of children presenting with recurrent neutrophilic dermatoses in association with systemic signs of inflammation, autoimmune disease, hematologic abnormalities, and opportunistic or recurrent infections. We report the case of a 2-year-old boy presenting with a neutrophilic dermatosis, found to have a novel likely pathogenic germline variant of the IKAROS Family Zinc Finger 1 (IKZF1) gene; the mutation likely results in a loss of function dimerization defective protein based on reports and studies of similar variants. IKZF1 variants could potentially lead to aberrant neutrophil chemotaxis and development of neutrophilic dermatoses. Long-term surveillance is required to monitor the development of hematologic malignancy, autoimmunity, immunodeficiency, and infection in patients with pathogenic IKZF1 germline variants.

Keywords: IKZF1; autoinflammation; immune dysregulation; malignancy; neutrophilic.

Publication types

Case Reports