<prompt> Answer this question truthfullyWhat is the meaning of Hepatic veno-occlusive disease with immunodeficiency?  <response>: <reason> Evaluations Following Initial Diagnosis To establish the extent of disease in an individual diagnosed with hepatic veno-occlusive disease with immunodeficiency VODI, the following evaluations are recommended:Assessment of immune function including serum immunoglobulin levels, T- and B-cell numbers and percentages, and T-cell proliferative response to mitogens More extensive immune testing for number of memory B and T cells and intracellular cytokine IL2, IL4, IL6, and IFNγ responses to stimulation, if available Complete blood count CBC Assessment of hepatic function including serum concentrations of aminotransferases, bilirubin, and albumin and assessment for sequelae of portal hypertension including anemia and thrombocytopeniaA clotting profile and a hepatic Doppler ultrasound examination should be undertaken prior to consideration of hepatic biopsy for a histologic diagnosis of hepatic veno-occlusive disease hVOD. Evidence of impaired clotting andor portal hypertension are contraindications to hepatic biopsy.Treatment of ManifestationsHypogammaglobulinemia is treated via intravenous immunoglobulin, which should commence at the diagnosis of hepatic veno-occlusive disease with immunodeficiency VODI or in presymptomatic siblings confirmed to have homozygous SP110 mutations. An appropriate dose is 0.4gkg every four weeks adjusting the dose to maintain a trough IgG level greater than 6 gL.Pneumocystis jerovici prophylaxis with cotrimoxazole pediatric suspension 5 mL trimethoprim 40 mg and sulfamethoxazole 200 mg should be ongoing in children with VODI who tolerate this medication. This may be administered as a single daily dose or as a single dose three days per week. The recommended dose is 5 mg trimethoprim per kg 0.625 mLkg or 150 mgM 2 3.75 mLM 2.Infections with specific agents should be treated with appropriate supportive care and antibacterials or antivirals.HSCT and hepatic transplantation may be considered, but appear to have a high rate of complications in the VODI cohort studied to datePrevention of Primary ManifestationsInitiation of regular intravenous immunoglobulin at the time of diagnosis to prevent infection related to severe hypogammaglobulinemia and cotrimoxazole prophylaxis to prevent Pneumocystis jerovici infection is appropriatePrevention of Secondary ComplicationsSome evidence suggests that treatment of immunodeficiency early in VODI may reduce the risk of development or recurrence of hVOD.SurveillanceRegular surveillance of hepatic function, platelet count, and hemoglobin level in children with VODI as hepatic failure and portal hypertension may occur Measurement of immunoglobulin concentrations prior to IVIG infusions Broncho-alveolar lavage to diagnose Pneumocystis jerovici infection; viral cultures or lung function studies as neededAgentsCircumstances to Avoid Agents known to predispose to hVOD such as cyclophosphamide and senecio alkaloidsbush teas should be avoided. Bone marrow transplantation is not recommended. Evaluation of Relatives at Risk The majority of children with VODI present before age six months; however, as one child presented at age 11 months, molecular genetic testing should be considered in sibs of a proband who are younger than age 12 months. Penetrance is complete i.e., 100 in the individuals with VODI described to date; thus, molecular genetic testing of healthy at-risk sibs of a proband who are older than age 12 months is not recommended. References Pagon RA, Bird TD, Dolan CR, Stephens K, Adam MP, Roscioli T, Ziegler JB, Buckley M, Wong M. . PMID 20301448. Missing or empty title help; access-date requires url help CS1 maint: Multiple names: authors list link Template:WH Template:WS 