Related Experiment Video
Updated: Aug 13, 2025
An Adoptive Transfer Model of Rheumatoid Arthritis in Mice
Published on: June 6, 2025
Spectrum of auto-inflammatory diseases in Morocco: a monocentric experience
Manal Souali1, Asmaa Sakhi1,2, Ghita Benbrahim Ansari1,2
1Laboratory of Clinical Immunology, Inflammation and Allergy (LICIA), Hassan II University - Faculty of Medicine and Pharmacy of Casablanca, Morocco.
Objective:
Auto-inflammatory diseases (AIDs) result from mutations in genes of the innate immune system leading to periodic multisystemic inflammation. We aimed to describe the clinical, biological and molecular features (when available) and outcomes of Moroccan patients with AIDs.
Methods:
Patient data were collected retrospectively and analysed over a 13-year period.
Results:
Among 30 patients, 60% had FMF, 16% mevalonate kinase deficiency (MKD) and 24% other AIDs. The mean age at first consultation was 6.9 years, and the mean diagnostic delay was 3 years. Consanguinity was reported in 16 cases. IgA vasculitis was associated with 33% of FMF patients, in whom the main clinical features were fever (88.8%), abdominal pain (100%), arthralgias (88.8%) and arthritis (50%), and the most frequent mutation was M694V (66%). All FMF patients were treated with colchicine. Most MKD patients were confirmed by elevated urinary mevalonic acid levels, and four of five MKD patients received targeted therapy. Chronic recurrent osteomyelitis patients were confirmed by radiological and histological analysis. Two cases of Marshall syndrome were diagnosed according to validated criteria. A case of familial pustular psoriasis was diagnosed based on histological analysis and a patient with Muckle-Wells syndrome by clinical features. The outcome was favourable in 76%, partial in 13%, and three deaths were reported.
Conclusion:
FMF and MKD are the most reported diseases. AIDs are probably underestimated because they are unknown to clinicians. The aim of this work is to raise awareness among paediatricians about AIDs and create a network for best practice.
Insights
Auto-inflammatory diseases (AIDs) are genetic immune disorders causing recurrent inflammation. This study highlights Familial Mediterranean Fever (FMF) and mevalonate kinase deficiency (MKD) as common AIDs in Moroccan patients, emphasizing the need for increased clinician awareness.
Area of Science:
- Immunology
- Genetics
- Pediatrics
Background:
- Auto-inflammatory diseases (AIDs) stem from innate immune system gene mutations, causing periodic multisystemic inflammation.
- Understanding the spectrum of AIDs in diverse populations is crucial for accurate diagnosis and management.
Purpose of the Study:
- To characterize the clinical, biological, and molecular features of Moroccan patients with AIDs.
- To describe the outcomes of AIDs in this cohort.
- To raise awareness among pediatricians regarding AIDs.
Main Methods:
- Retrospective analysis of patient data over a 13-year period.
- Inclusion of clinical, biological, and molecular data where available.
- Diagnosis based on established criteria for specific AIDs.
Main Results:
- Familial Mediterranean Fever (FMF) was diagnosed in 60% of 30 patients, followed by mevalonate kinase deficiency (MKD) in 16%.
- Mean diagnostic delay was 3 years; IgA vasculitis was associated with 33% of FMF patients.
- Outcomes were favorable in 76% of patients, with colchicine being the primary treatment for FMF.
Conclusions:
- FMF and MKD are the most frequently observed AIDs in the studied Moroccan cohort.
- AIDs may be underdiagnosed due to lack of clinician awareness.
- Establishing a network for best practices is recommended to improve AIDs care.
More Related Videos
09:18Author Spotlight: Isolation and Culture of Primary Synovial Macrophages and Fibroblasts from Murine Arthritis Tissue
Published on: February 24, 2023
06:35An Immunohistopathologic Study to Profile the Folate Receptor Beta Macrophage and Vascular Immune Microenvironment in Giant Cell Arteritis
Published on: February 8, 2019
Related Concept Videos
01:29Autoimmune Disorders
Concept and Mechanism of Autoimmune Diseases
The immune...
01:22Rheumatic Heart Disease II: Clinical Manifestations and Diagnostic Studies
01:28Fungal Phylum Microsporidia
01:30Inflammatory Bowel Disease II: Crohn's Disease
Inflammatory bowel disease, commonly known as IBD, refers to a collection of disorders that lead to persistent inflammation of the gastrointestinal tract. The two types of IBD are ulcerative colitis, which impacts the colon, and Crohn's disease, which can involve any part of the gastrointestinal segment.
Crohn's disease
Crohn's disease is a chronic, systemic inflammatory bowel disease (IBD) that predominantly affects the gastrointestinal tract. It is marked by...
01:30Inflammatory Bowel Disease III: Diagnostic Studies and Management I-Nutritional Therapy
Diagnostic studies
A colonoscopy is the definitive screening test, distinguishing ulcerative colitis from other colon diseases with similar symptoms. During a colonoscopy test, inflamed mucosa with exudate ulcerations can be observed, and biopsies are taken to determine the histologic characteristics of the...
01:11Genome-wide Association Studies-GWAS
GWAS does not require the identification of the target gene involved in...