Table 2. [Hepatic Veno-Occlusive Disease with Immunodeficiency: Frequency of Select Features]. - GeneReviews®

Feature	% of Persons w/Feature	Comments
Immunologic	Panhypogammaglobulinemia	100%
Normal T & B cell numbers	95%-100%	Normal TRECs (relevant to newborn screening)
P jirovecii infection	60%
CMV infection	10%-20%
Mucocutaneous candidiasis	10%-20%
Immune dysregulation	10%-20%	Hemolytic uremic syndrome, interstitial lung disease, hemophagocytic lymphohistiocytosis
Liver	Hepatomegaly	60%	Frequency of feature at presentation
Hepatic failure	20%
Thrombocytopenia	50%
Anemia	40%
Neurologic	Cerebral infarction	10%
Leukodystrophy	10%
Other neurologic features	10%	Calcification on brain imaging, microcephaly, developmental delay, SIADH

From: Hepatic Veno-Occlusive Disease with Immunodeficiency

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Adam MP, Feldman J, Mirzaa GM, et al., editors.

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