Deficiency of Interleukin-1 Receptor Antagonist: A Case with Late Onset Severe Inflammatory Arthritis, Nail Psoriasis with Onychomycosis and Well Responsive to Adalimumab Therapy
DIRA (deficiency of the IL-1Ra) is a rare condition that usually presents in the neonatal period. Patients with DIRA present with systemic inflammation, respiratory distress, joint swelling, pustular rash, multifocal osteomyelitis, and periostitis. Previously, we reported a patient with a novel muta...
Saved in:
| Main Authors: | , , , , , , , |
|---|---|
| Format: | Article |
| Language: | English |
| Published: |
Wiley
2019-01-01
|
| Series: | Case Reports in Immunology |
| Online Access: | http://dx.doi.org/10.1155/2019/1902817 |
| Tags: |
Add Tag
No Tags, Be the first to tag this record!
|
| _version_ | 1832551752016068608 |
|---|---|
| author | Necil Kutukculer Anne Puel Sanem Eren Akarcan Kunihiko Moriya Neslihan Edeer Karaca Melanie Migaud Jean-Laurent Casanova Guzide Aksu |
| author_facet | Necil Kutukculer Anne Puel Sanem Eren Akarcan Kunihiko Moriya Neslihan Edeer Karaca Melanie Migaud Jean-Laurent Casanova Guzide Aksu |
| author_sort | Necil Kutukculer |
| collection | DOAJ |
| description | DIRA (deficiency of the IL-1Ra) is a rare condition that usually presents in the neonatal period. Patients with DIRA present with systemic inflammation, respiratory distress, joint swelling, pustular rash, multifocal osteomyelitis, and periostitis. Previously, we reported a patient with a novel mutation in IL1RN with a healthy neonatal period, a late-onset of pustular dermatosis, inflammatory arthritis, and excellent response to canakinumab treatment. Herein, we are presenting a new case of late-onset DIRA syndrome, carrying a different mutation and showing different clinical findings. This patient is the first one in the literature with the inflammatory arthritis, nail psoriasis, and onychomycosis and with her remarkable response to monoclonal antibodies. The case responded well and fully recovered after treatment with adalimumab, but not with canakinumab. The DIRA disease can lead to death from multiple organ failures and if recognized early, the treatment with replacement of the deficient protein with biologic agents induces rapid and complete remission. Therefore, clinical symptoms should be learned exactly by the pediatricians, pediatric rheumatologists, and immunologists; and molecular analysis targeting this defect must be performed as early as possible. |
| format | Article |
| id | doaj-art-9922703a771e4f30854b1412a7efd86c |
| institution | Kabale University |
| issn | 2090-6609 2090-6617 |
| language | English |
| publishDate | 2019-01-01 |
| publisher | Wiley |
| record_format | Article |
| series | Case Reports in Immunology |
| spelling | doaj-art-9922703a771e4f30854b1412a7efd86c2025-02-03T06:00:34ZengWileyCase Reports in Immunology2090-66092090-66172019-01-01201910.1155/2019/19028171902817Deficiency of Interleukin-1 Receptor Antagonist: A Case with Late Onset Severe Inflammatory Arthritis, Nail Psoriasis with Onychomycosis and Well Responsive to Adalimumab TherapyNecil Kutukculer0Anne Puel1Sanem Eren Akarcan2Kunihiko Moriya3Neslihan Edeer Karaca4Melanie Migaud5Jean-Laurent Casanova6Guzide Aksu7Ege University Faculty of Medicine, Department of Pediatric Immunology and Rheumatology, Izmir, TurkeyLaboratory of Human Genetics of Infectious Diseases, Necker Branch, INSERM UMR 1163, Paris, EU, FranceEge University Faculty of Medicine, Department of Pediatric Immunology and Rheumatology, Izmir, TurkeyLaboratory of Human Genetics of Infectious Diseases, Necker Branch, INSERM UMR 1163, Paris, EU, FranceEge University Faculty of Medicine, Department of Pediatric Immunology and Rheumatology, Izmir, TurkeyLaboratory of Human Genetics of Infectious Diseases, Necker Branch, INSERM UMR 1163, Paris, EU, FranceLaboratory of Human Genetics of Infectious Diseases, Necker Branch, INSERM UMR 1163, Paris, EU, FranceEge University Faculty of Medicine, Department of Pediatric Immunology and Rheumatology, Izmir, TurkeyDIRA (deficiency of the IL-1Ra) is a rare condition that usually presents in the neonatal period. Patients with DIRA present with systemic inflammation, respiratory distress, joint swelling, pustular rash, multifocal osteomyelitis, and periostitis. Previously, we reported a patient with a novel mutation in IL1RN with a healthy neonatal period, a late-onset of pustular dermatosis, inflammatory arthritis, and excellent response to canakinumab treatment. Herein, we are presenting a new case of late-onset DIRA syndrome, carrying a different mutation and showing different clinical findings. This patient is the first one in the literature with the inflammatory arthritis, nail psoriasis, and onychomycosis and with her remarkable response to monoclonal antibodies. The case responded well and fully recovered after treatment with adalimumab, but not with canakinumab. The DIRA disease can lead to death from multiple organ failures and if recognized early, the treatment with replacement of the deficient protein with biologic agents induces rapid and complete remission. Therefore, clinical symptoms should be learned exactly by the pediatricians, pediatric rheumatologists, and immunologists; and molecular analysis targeting this defect must be performed as early as possible.http://dx.doi.org/10.1155/2019/1902817 |
| spellingShingle | Necil Kutukculer Anne Puel Sanem Eren Akarcan Kunihiko Moriya Neslihan Edeer Karaca Melanie Migaud Jean-Laurent Casanova Guzide Aksu Deficiency of Interleukin-1 Receptor Antagonist: A Case with Late Onset Severe Inflammatory Arthritis, Nail Psoriasis with Onychomycosis and Well Responsive to Adalimumab Therapy Case Reports in Immunology |
| title | Deficiency of Interleukin-1 Receptor Antagonist: A Case with Late Onset Severe Inflammatory Arthritis, Nail Psoriasis with Onychomycosis and Well Responsive to Adalimumab Therapy |
| title_full | Deficiency of Interleukin-1 Receptor Antagonist: A Case with Late Onset Severe Inflammatory Arthritis, Nail Psoriasis with Onychomycosis and Well Responsive to Adalimumab Therapy |
| title_fullStr | Deficiency of Interleukin-1 Receptor Antagonist: A Case with Late Onset Severe Inflammatory Arthritis, Nail Psoriasis with Onychomycosis and Well Responsive to Adalimumab Therapy |
| title_full_unstemmed | Deficiency of Interleukin-1 Receptor Antagonist: A Case with Late Onset Severe Inflammatory Arthritis, Nail Psoriasis with Onychomycosis and Well Responsive to Adalimumab Therapy |
| title_short | Deficiency of Interleukin-1 Receptor Antagonist: A Case with Late Onset Severe Inflammatory Arthritis, Nail Psoriasis with Onychomycosis and Well Responsive to Adalimumab Therapy |
| title_sort | deficiency of interleukin 1 receptor antagonist a case with late onset severe inflammatory arthritis nail psoriasis with onychomycosis and well responsive to adalimumab therapy |
| url | http://dx.doi.org/10.1155/2019/1902817 |
| work_keys_str_mv | AT necilkutukculer deficiencyofinterleukin1receptorantagonistacasewithlateonsetsevereinflammatoryarthritisnailpsoriasiswithonychomycosisandwellresponsivetoadalimumabtherapy AT annepuel deficiencyofinterleukin1receptorantagonistacasewithlateonsetsevereinflammatoryarthritisnailpsoriasiswithonychomycosisandwellresponsivetoadalimumabtherapy AT sanemerenakarcan deficiencyofinterleukin1receptorantagonistacasewithlateonsetsevereinflammatoryarthritisnailpsoriasiswithonychomycosisandwellresponsivetoadalimumabtherapy AT kunihikomoriya deficiencyofinterleukin1receptorantagonistacasewithlateonsetsevereinflammatoryarthritisnailpsoriasiswithonychomycosisandwellresponsivetoadalimumabtherapy AT neslihanedeerkaraca deficiencyofinterleukin1receptorantagonistacasewithlateonsetsevereinflammatoryarthritisnailpsoriasiswithonychomycosisandwellresponsivetoadalimumabtherapy AT melaniemigaud deficiencyofinterleukin1receptorantagonistacasewithlateonsetsevereinflammatoryarthritisnailpsoriasiswithonychomycosisandwellresponsivetoadalimumabtherapy AT jeanlaurentcasanova deficiencyofinterleukin1receptorantagonistacasewithlateonsetsevereinflammatoryarthritisnailpsoriasiswithonychomycosisandwellresponsivetoadalimumabtherapy AT guzideaksu deficiencyofinterleukin1receptorantagonistacasewithlateonsetsevereinflammatoryarthritisnailpsoriasiswithonychomycosisandwellresponsivetoadalimumabtherapy |