Unique Mutation in SP110 Resulting in Hepatic Veno-Occlusive Disease with Immunodeficiency

• Hoofdauteurs: Osama Hamdoun (Auteur), Asia Al Mulla (Auteur), Shamma Al Zaabi (Auteur), Hiba Shendi (Auteur), Sharifa Al Ghamdi (Auteur), Jozef Hertecant (Auteur), Amar Al-Shibli (Auteur)
• Formaat: Boek
• Gepubliceerd in: Hindawi Limited, 2020-01-01T00:00:00Z.
• Onderwerpen: article
• Online toegang: Connect to this object online.

Familial hepatic veno-occlusive disease with immunodeficiency (VODI, OMIM: 235550) is a rare form of combined immune deficiency (CID) that presents in the first few months of life with failure to thrive, recurrent infections, opportunistic infections along with liver impairment. Herein, we are descr...