Neutrophilic dermatosis in a patient with an IKZF1 variant and a review of monogenic autoinflammatory disorders presenting with neutrophilic dermatoses
© 2024 Wiley Periodicals LLC..
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.
| Medienart: |
E-Artikel |
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| Erscheinungsjahr: |
2024 |
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| Erschienen: |
2024 |
| Enthalten in: |
Zur Gesamtaufnahme - year:2024 |
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| Enthalten in: |
Pediatric dermatology - (2024) vom: 27. Feb. |
| Sprache: |
Englisch |
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| Beteiligte Personen: |
Guirguis, Justina [VerfasserIn] |
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| Links: |
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| Themen: |
Autoinflammation |
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| Anmerkungen: |
Date Revised 27.02.2024 published: Print-Electronic Citation Status Publisher |
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| doi: |
10.1111/pde.15566 |
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| funding: |
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| Förderinstitution / Projekttitel: |
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| PPN (Katalog-ID): |
NLM369029798 |
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| 245 | 1 | 0 | |a Neutrophilic dermatosis in a patient with an IKZF1 variant and a review of monogenic autoinflammatory disorders presenting with neutrophilic dermatoses |
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| 520 | |a 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 | ||
| 650 | 4 | |a Case Reports | |
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| 700 | 1 | |a Jones, Derek |e verfasserin |4 aut | |
| 700 | 1 | |a Likhite, Maryel |e verfasserin |4 aut | |
| 700 | 1 | |a Chen, Fei |e verfasserin |4 aut | |
| 700 | 1 | |a Kesserwan, Chimene |e verfasserin |4 aut | |
| 700 | 1 | |a Gindin, Tatyana |e verfasserin |4 aut | |
| 700 | 1 | |a Kahn, Philip J |e verfasserin |4 aut | |
| 700 | 1 | |a Beck, David |e verfasserin |4 aut | |
| 700 | 1 | |a Oza, Vikash S |e verfasserin |4 aut | |
| 700 | 1 | |a Hillier, Kirsty |e verfasserin |4 aut | |
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