Common variable immunodeficiency (CVID) is associated with a broad spectrum of noninfectious manifestations contributing significantly to morbidity. This study describes these complications in CVID patients at a reference center in Tunisia.
A retrospective and prognostic study was conducted in the Pediatric Immuno-Haematology and Stem Cell Transplantation Department, including patients meeting the ESID criteria for CVID.
Among 36 enrolled patients (16 males, 20 females), noninfectious manifestations were observed in all cases. Gastrointestinal manifestations (n = 27, 75%) included chronic diarrhea (58%), celiac disease (17%), and inflammatory bowel disease (2 cases). Two patients had chronic liver disease, while others had gastroesophageal reflux, enteropathy, intussusception, primary biliary cirrhosis, or cholestasis with biliary cysts (one case each). Autoimmune manifestations occurred in 19 patients (53%), including cytopenias (28%), organ-specific diseases (11%), and systemic diseases (14%) such as lupus (n = 1), myasthenia (n = 1), and rheumatoid arthritis (n = 3). Lymphoproliferation was present in 21 patients (58%), with lymphadenopathy (19%), hepatomegaly (36%), and splenomegaly (36%). Cutaneous manifestations (17%) included pigmentation disorders (n = 3), nodules (n = 1), alopecia (n = 1), psoriasis (n = 1), and allergic urticaria (n = 1). Endocrine disorders affected 28%, including delayed puberty (17%), hypothyroidism (8%), hypoparathyroidism (n = 1), type 1 diabetes (n = 1), and growth retardation (36%). Interstitial lung disease was noted in 11%. Articular manifestations (36%) included arthralgia (n = 10), osteoporosis (n = 5), and lumbar osteoarthritis (n = 1). Neurological disorders (n = 3) included multiple sclerosis (n = 1), epilepsy (n = 1), and autoimmune hypophysitis (n = 1). Malignancies (n = 4) included gastric adenocarcinoma (n = 1), mesothelioma (n = 1), and lymphoma (n = 2).
