Not provided
| ID | Type | Description | Link |
|---|---|---|---|
| 2013-A00275-40 | Registry Identifier | IDRCB |
Not provided
Not provided
Not provided
Not provided
Not provided
Not provided
Not provided
Not provided
Not provided
Not provided
Not provided
Not provided
Not provided
Not provided
Not provided
Not provided
Not provided
This study aims at studying the natural history of Netherton syndrome (NS), to identify the consequences of LEKTI deficiency on the immune system and to characterize new molecular mechanisms involved in the disease.
Not provided
Not provided
Not provided
Not provided
Not provided
| Label | Type | Description | Intervention Names |
|---|---|---|---|
| Netherton syndrome | Active Comparator | Patients with Netherton syndrome |
|
| Healthy controls | Active Comparator | healthy controls |
|
| Name | Type | Description | Arm Group Labels | Other Names |
|---|---|---|---|---|
| Biopsy | Other |
| ||
| Blood sample |
| Measure | Description | Time Frame |
|---|---|---|
| Measurement of seric cytokines levels | 3 months after patient recruitment |
| Measure | Description | Time Frame |
|---|---|---|
| Pattern of skin abnormalities | 3 months after patient recruitment |
Not provided
Inclusion Criteria:
Exclusion Criteria:
Not provided
Not provided
Not provided
Not provided
Not provided
Not provided
Not provided
| Name | Affiliation | Role |
|---|---|---|
| Alain Hovnanian, MD, PhD | INSERM U1163 | Principal Investigator |
| Facility | Status | City | State | ZIP | Country | Contacts |
|---|---|---|---|---|---|---|
| Imagine Institute for genetic diseases | Paris | 75015 | France |
| PubMed Identifier | Type | Citation | Retractions |
|---|---|---|---|
| 34543653 | Result | Barbieux C, Bonnet des Claustres M, Fahrner M, Petrova E, Tsoi LC, Gouin O, Leturcq F, Nicaise-Roland P, Bole C, Beziat V, Bourrat E, Schilling O, Gudjonsson JE, Hovnanian A. Netherton syndrome subtypes share IL-17/IL-36 signature with distinct IFN-alpha and allergic responses. J Allergy Clin Immunol. 2022 Apr;149(4):1358-1372. doi: 10.1016/j.jaci.2021.08.024. Epub 2021 Sep 17. | |
| 40908106 |
Not provided
Not provided
Not provided
| ID | Term |
|---|---|
| D056770 | Netherton Syndrome |
| ID | Term |
|---|---|
| D000015 | Abnormalities, Multiple |
| D000013 | Congenital Abnormalities |
| D009358 | Congenital, Hereditary, and Neonatal Diseases and Abnormalities |
| D016113 | Ichthyosiform Erythroderma, Congenital |
Not provided
Not provided
| ID | Term |
|---|---|
| D001706 | Biopsy |
| D001800 | Blood Specimen Collection |
| ID | Term |
|---|---|
| D003581 | Cytodiagnosis |
| D003584 | Cytological Techniques |
| D019411 | Clinical Laboratory Techniques |
| D019937 | Diagnostic Techniques and Procedures |
Not provided
Not provided
Not provided
Not provided
Not provided
| Other |
|
| Result |
| Petrova E, Duthoit A, Prassas I, Hovnanian A. Unveiling serine protease activity profiles in Netherton syndrome skin across clinical subtypes by noninvasive analysis. Am J Physiol Cell Physiol. 2025 Oct 1;329(4):C1139-C1149. doi: 10.1152/ajpcell.01027.2024. Epub 2025 Sep 4. |
| D007057 | Ichthyosis |
| D012868 | Skin Abnormalities |
| D012873 | Skin Diseases, Genetic |
| D030342 | Genetic Diseases, Inborn |
| D007232 | Infant, Newborn, Diseases |
| D007642 | Keratosis |
| D012871 | Skin Diseases |
| D017437 | Skin and Connective Tissue Diseases |
| D003933 | Diagnosis |
| D013048 | Specimen Handling |
| D003949 | Diagnostic Techniques, Surgical |
| D013514 | Surgical Procedures, Operative |
| D008919 | Investigative Techniques |
| D011677 | Punctures |