A young boy with rash, arthritis, and developmental delay : Monogenic lupus due to DNASE2 gene defect
© 2023 Asia Pacific League of Associations for Rheumatology and John Wiley & Sons Australia, Ltd..
Monogenic causes are increasingly being recognized in patients with lupus, especially in early-onset disease. We herein report a boy with a novel mutation in the DNase 2 (DNASE2) gene presenting with monogenic lupus. A 6-year-old boy with a global developmental delay with microcephaly presented with chronic febrile illness with anemia, rash, polyarthritis, renal involvement, and hepatosplenomegaly. Laboratory investigations revealed positive antinuclear antibody, high anti-dsDNA antibody titers, hypocomplementemia, hypergammaglobulinemia, nephrotic range proteinuria, and diffuse proliferative glomerulonephritis. Magnetic resonance imaging of brain showed altered signal intensity in subcortical white matter in bilateral fronto-parieto-temporal lobes. Targeted next-generation sequencing revealed a novel pathogenic variant in DNASE2. He was treated with oral prednisolone, mycophenolate mofetil, cyclosporine, and hydroxychloroquine and is doing well on follow up. DNASE2 deficiency has been reported as a rare genetic cause of monogenic lupus. DNASE2 deficiency should be suspected in patients with early-onset lupus with polyarthritis, erythematous rash, and neurological involvement.
| Medienart: |
E-Artikel |
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| Erscheinungsjahr: |
2023 |
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| Erschienen: |
2023 |
| Enthalten in: |
Zur Gesamtaufnahme - volume:26 |
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| Enthalten in: |
International journal of rheumatic diseases - 26(2023), 12 vom: 11. Dez., Seite 2599-2602 |
| Sprache: |
Englisch |
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| Beteiligte Personen: |
Basu, Suprit [VerfasserIn] |
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| Links: |
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| Themen: |
9PHQ9Y1OLM |
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| Anmerkungen: |
Date Completed 04.12.2023 Date Revised 04.12.2023 published: Print-Electronic Citation Status MEDLINE |
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| doi: |
10.1111/1756-185X.14826 |
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| funding: |
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| PPN (Katalog-ID): |
NLM359326943 |
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| 245 | 1 | 2 | |a A young boy with rash, arthritis, and developmental delay |b Monogenic lupus due to DNASE2 gene defect |
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| 520 | |a © 2023 Asia Pacific League of Associations for Rheumatology and John Wiley & Sons Australia, Ltd. | ||
| 520 | |a Monogenic causes are increasingly being recognized in patients with lupus, especially in early-onset disease. We herein report a boy with a novel mutation in the DNase 2 (DNASE2) gene presenting with monogenic lupus. A 6-year-old boy with a global developmental delay with microcephaly presented with chronic febrile illness with anemia, rash, polyarthritis, renal involvement, and hepatosplenomegaly. Laboratory investigations revealed positive antinuclear antibody, high anti-dsDNA antibody titers, hypocomplementemia, hypergammaglobulinemia, nephrotic range proteinuria, and diffuse proliferative glomerulonephritis. Magnetic resonance imaging of brain showed altered signal intensity in subcortical white matter in bilateral fronto-parieto-temporal lobes. Targeted next-generation sequencing revealed a novel pathogenic variant in DNASE2. He was treated with oral prednisolone, mycophenolate mofetil, cyclosporine, and hydroxychloroquine and is doing well on follow up. DNASE2 deficiency has been reported as a rare genetic cause of monogenic lupus. DNASE2 deficiency should be suspected in patients with early-onset lupus with polyarthritis, erythematous rash, and neurological involvement | ||
| 650 | 4 | |a Case Reports | |
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| 700 | 1 | |a Rawat, Amit |e verfasserin |4 aut | |
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