Table 1.
Demographic and clinical features of CARMIL2-deficient patients.
| Patient 1 | Patient 2 | Patient 3 | Patient 4 | |
|---|---|---|---|---|
| Demographics | ||||
| Age at diagnosis | 2 years | 12 years | 11 years | 15 years |
| Gender | Male | Male | Female | Male |
| Consanguinity | Yes | Yes | No | Unknown |
| Parents origin (ethnicity/country) | Arab-Berber/Moroccan | Arab-Berber/Moroccan | Indigenous Canadian (mother), Israeli-Polish (father) | Unknown |
| Gastrointestinal disease | ||||
| Family history of IBD | None | None | None | None |
| IBD (Paris classification of IBD)25 | CD (A1aL2B1G1) | None | UC (A1bE4S1) | UC (A1bE4S1) |
| Symptoms at onset | Chronic diarrhea, ± blood and mucus, ± abdominal pain, failure to thrive | Abdominal pain, bloody diarrhea, weight loss | Abdominal pain, bloody diarrhea, fever, weight loss | |
| EGD/IC | Normal/mild patchy loss of vascular pattern | Gastric erythema and superficial erosion of duodenal cap/Pancolitis with normal terminal ileum | Hyperemic esophagus, small ulcers and inflammation of stomach/Severe pancolitis with backwash ileitis | |
| Pathology (upper/lower gastrointestinal tract) | Altered villous profile and atrophy, mild lymphomonocytic inflammation and epithelioid microgranulomas in duodenal bulb/Crypt distortion, mild lymphomonocytic inflammation, Paneth cell metaplasia and epithelioid granulomas of the colon | Mild increase of duodenal lamina propria mononuclear cells, moderate antritis with focal acute activity, moderate chronic body gastritis/Mild-moderately active IBD of entire colon, focal superficial acute terminal ileitis | Normal duodenum, mild chronic non-atrophic gastritis, mild esophagitis/ Chronic colitis with mild to moderate acute activity throughout all biopsies | |
| Surgery | None | Colectomy, ileostomy, J pouch | Colectomy, ileostomy, J pouch | |
| Other clinical features | ||||
| Infections | Streptococcus pneumoniae pneumonia complicated by sepsis | Tinea corporis, prolonged upper respiratory tract infections | Intestinal leak with intraabdominal sepsis, pouchitis, pneumonia | Hepatic abscesses, C. difficile infection, abdominal abscess with enterocutaneous fistula |
| Endocrine disorders | None | Addison’s disease, Hashimoto thyroiditis | None | None |
| Skin | Eczema (first months) | Eczema | None | None |
| Others | Neuropsychiatric disorder (developmental delay and behavioral disorders) | Depressive disorder | Reactive airway disease | Unknown |
| Autoantibodies | Anti-thyroid Abs; negative anti-Harmonin antibodies | Anti-thyroid Abs, LAC | ANCA | ANCA |
EGD esophagogastroduodenoscopy, IBD inflammatory bowel disease, IC ileocolonoscopy, LAC Lupus anticoagulant.