Table 1 Summary of clinical features and treatments
From: The diagnostic challenge of very early-onset enterocolitis in an infant with XIAP deficiency
1 month | 2 – 3 months | 11.5 months | 15 months | |
|---|---|---|---|---|
Clinical features | High fever, | High fever | Intractable diarrhoea | Intractable diarrhoea, Vomit, |
Hepatomegaly, | Bloody and mucous diarrhoea | |||
Recurrent fever | Recurrent fever | |||
Splenomegaly | Failure to thrive | Skin rash | ||
Mild splenomegaly | Mild hepato-splenomegaly | |||
Haematological values | WBC 25.000/μl | WBC: 5.140/μl | WBC: 31.440/μl | WBC: 18.400/μl |
(N 38 %) | (N29%) | (N 55 %) | (N 62 %) | |
CRP: 14,3 mg/L | CRP: 21 mg/L | CRP: 107 mg/L | CRP: 99 mg/L | |
AST: 219 U/L | AST: 47 U/L | |||
ALT: 327 U/L | ALT: 41 U/L | |||
LDH 2300 U/L | Triglycerides: 2,39 mmol/L | |||
Triglycerides: 3,08 mmol/L | Ferritin: 1.651 ng/ml | |||
Ferritin: 18.000 ng/ml | ||||
IgA: 0,54 g/L | ||||
IgG: 5,67 g/L | ||||
IgM: 0,74 g/L | ||||
hypoalbumiemia | ||||
Specialist investigations | Bone marrow smear: negative | Colonoscopy: inflammatory colitis with erosions and aphthae and increased cell apoptosis | Colonoscopy: Crohn’s-like colitis | |
EGDS normal | ||||
CMV negative in mucosa | ||||
Virology | Blood CMV: 435.800 copies/ml | Blood CMV: negative | ||
Immunological evaluations | Normal Degranulation Assay | DHR test normal | ||
Genetic evaluations | PRF1, SAP, STXBP2 wild type | FOXP3: wild type | MVK: wild type | IL10, IL10RA, L10RB: wild type |
XIAP: mutate | ||||
Therapeutic interventions | Glucocorticoids, ganciclovir | Intravenous glucocorticoids, tacrolimus, | Glucocorticoids, Azathioprine, Adalimumab | Glucocorticoids, Adalimumab, |
TPN | ||||
TPN | TPN | Antibiotics | ||
Surgical intervention | none | none | Colectomy | HSCT |