DOCK8 deficiency presenting with sclerosing cholangitis, raised immunoglobulin E, and bronchiectasis: A fatal pediatric case report.
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All Authors
Nedelkopoulou, N.
Ugonna, K.
Hughes, S.
Rajwal, S.
Mtegha, M.
LTHT Author
Rajwal, Sanjay
Mtegha, Marumbo
Mtegha, Marumbo
LTHT Department
Leeds Children's Hospital
Children's Liver Unit
Children's Liver Unit
Non Medic
Publication Date
2026
Item Type
Journal Article
Language
Subject
CRYPTOSPORIDIUM , SEVERE COMBINED IMMUNODEFICIENCY , LIVER TRANSPLANTATION
Subject Headings
Abstract
Dedicator of cytokinesis 8 (DOCK8) deficiency is a rare autosomal recessive primary immunodeficiency. Patients with DOCK8 deficiency typically present at early age with allergic manifestations, cutaneous and respiratory infections, raised immunoglobulin E, and they have an increased risk of developing malignancies. Hematopoetic stem cell transplantation (HSCT) is the only curative treatment for DOCK8 deficiency. We present a female paediatric patient with DOCK8 deficiency who was assessed for HSCT, but underwent liver transplantation fist in view of decompensated liver disease. The patient, unfortunately, succumbed secondary to infectious complications in the post-op period.
Journal
JPGN Reports