Table 2 Overarching Principles and Final Recommendations for Patients with Monogenic Inflammatory Immune-Dysregulation Disorders (MIIDDs)
Agreement | Descriptive Statistics | ||||
|---|---|---|---|---|---|
Percentage (%) | Mean | Standard deviation | Interquartile range | ||
Overarching Principles | |||||
A.1 | Monogenic Inflammatory Immune-Dysregulation Disorders (MIIDDs) is an umbrella term for a heterogeneous group of disorders. | 100 | 4.93 | 0.24 | 0.0 |
A.2 | A patient with Monogenic Inflammatory Immune-Dysregulation Disorder (MIIDD) is defined as having a pathogenic gene mutation, immune system dysregulation, and inflammatory manifestations with clinical features that can evolve over time. | 100 | 4.66 | 0.47 | 1.0 |
B.3 | The availability, accessibility, and accurate interpretation of genetic testing will enhance patient identification and improve overall care outcomes. | 93.33 | 4.73 | 0.99 | 0.0 |
B.4 | There is a need for the development of a definition of disease remission in patients with MIIDDs. | 100 | 4.6 | 0.48 | 1.0 |
B.5 | There is a need for the development and validation of disease activity and damage indices for patients with MIIDDs. | 100 | 4.4 | 0.48 | 1.0 |
C.6 | Clinical improvement while on treatment is a feasible goal in the management of patients with MIIDDs. | 93.33 | 4.26 | 0.57 | 1.0 |
C.7 | More effective therapeutic options for the management of patients with MIIDDs should be explored and tested. | 100 | 4.8 | 0.4 | 0.0 |
C.8 | There is a need for the development of therapeutic guidelines for the management of patients with MIIDDs. | 100 | 4.8 | 0.4 | 0.0 |
Recommendations | |||||
B.1 | Clinical and laboratory improvement should be used to assess the response to treatment. | 100 | 4.6 | 0.48 | 1.0 |
B.2 | Patients with MIIDDs should be screened for other non-inflammatory autoimmune conditions, such as autoimmune thyroiditis. | 86.67 | 4.26 | 0.67 | 1.0 |
C.2 | Corticosteroids may serve as a therapeutic option for some patients with MIIDDs, depending on the clinical context and individual patient needs. | 93.33 | 4.13 | 0.71 | 0.5 |
C.3 | Both conventional and/or biologic disease-modifying antirheumatic drugs may serve as therapeutic options for some patients with MIIDDs, depending on the clinical context and individual patient needs. | 100 | 4.4 | 0.48 | 1.0 |
C.4 | Intravenous immunoglobulin (IVIG) may serve as a therapeutic option for some patients with MIIDDs, depending on the clinical context and individual patient needs. | 100 | 4.33 | 0.47 | 1.0 |
C.5 | Antibiotic prophylaxis may be required for some patients with MIIDDs, depending on the clinical context and individual patient needs. | 86.67 | 3.93 | 0.44 | 0.0 |
C.6 | A hematopoietic stem cell transplant may be needed for some patients with MIIDDs, depending on the clinical context and individual patient needs. | 86.67 | 3.93 | 0.44 | 0.0 |
D.7 | Based on the predominant clinic picture in patients with MIIDDs, the primary healthcare provider can be a rheumatologist or an immunologist. However, joint rheumatology/immunology care or clinics are advocated to provide optimum care for patients with MIIDDs. | 100 | 4.73 | 0.44 | 0.5 |
D.8 | Collaboration with other subspecialties as needed is advocated in the care of patients with MIIDDs. | 100 | 4.8 | 0.4 | 0.0 |
E.10 | Patients with MIIDDs should be educated regarding their disease and provided with ongoing support. | 100 | 4.8 | 0.4 | 0.0 |