TABLE 1.
Demographic, Genetic, and Clinical Data of CARMIL2-Deficient Patients
| P1 | P2 | P3 | P4 | P5 | |
|---|---|---|---|---|---|
| Demographics and Genetics | |||||
| Mutation | c.2082 + 1_2082 + 10 delGTGGGCGTCC | c.2082 + 1_2082 + 10 delGTGGGCGTCC | c.1652_1653delAT, p.His551ArgfsTer40 | c.688_689delAG p.Ser230ProfsTer2 | c.688_689delAG p.Ser230ProfsTer2 |
| Consanguinity | yes | yes | not reported | yes | yes |
| Ethnicity/country | Arab/Russia | Arab/Russia | South Asian/India | Turkish/Turkey | Turkish/Turkey |
| Sex | male | male | male | female | male |
| Age of onset/ diagnosis | 6 mo/3 yrs | 7 mo/9 yrs | 5 yrs/9 yrs | 6 yrs/14 yrs | 4.5 yrs/post mortem |
| Clinical presentation | |||||
| Gastrointestinal manifestations | |||||
| Colitis | pancolitis | pancolitis | pancolitis | unknown | pancolitis |
| Growth failure | + | + | + | + | + |
| Abdominal pain | + | + | + | + | + |
| Diarrhea | non-bloody, bloody | non-bloody, bloody | mucous, non-bloody | mucous, non-bloody | mucous, bloody |
| Oral lesions | aphthous lesions | aphthous lesions | aphthous lesions | aphthous lesions | aphthous lesions |
| Perianal disease | - | - | - | + | + |
| Others | gastritis, duodenitis | duodenitis, jejunitis | esophageal webs | duodenal stenosis | Candida esophagitis, ileoileal invagination, duodenal stenosis |
| Extraintestinal manifestations | |||||
| Recurrent infections | pneumonia (eg CMV), Salmonellosis | sinusitis, pneumonia, oral candidiasis | Candidiasis (oral, penile) | sinusitis, upper and lower respiratory tract infections | sinusitis, upper and lower respiratory tract infections, Candida infections (urine tract, skin), sepsis |
| Skin | dermatitis (>12 mo) | dermatitis (2 yrs) | — | severe generalized skin and nail psoriasis | — |
| Others | chorioretinitis | asthma (4 yrs) | hypothyroidism (TPO-Ab neg, 8 yrs) | psoriatic arthritis | — |
| Treatment | |||||
| Nutrition | elimination diet | elimination diet | exclusive enteral nutrition | — | parenteral (p) |
| Medication | antibiotics (p), azathioprine (n), infliximab (n), mesalazine (n), steroids (p) | abatacept (p), azathioprine (p), infliximab (p), mesalazine (n), steroids (p) | azathioprine (p), steroids (p), sulfasalazine (p) | topical steroids | azathioprine (p), mesalazine (p), metronidazole (p), steroids (p) |
| Surgery | colectomy (9 yrs) | — | — | duodenal stenosis (6 yrs 5 mo) | duodenal stenosis (4 yrs 2 mo) |
| Outcome | |||||
| alive | alive | alive | alive | dead (pulmonary infection, sepsis, bilateral pneumothorax, respiratory distress at the age of 4 yrs 9 mo) |
Abbreviations: g, good response; mo, months; n, no response; p, partial response; yrs, years.