JPGN Rep. 2026 Feb;7(1):
11-13
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.
Keywords: cryptosporidium; immunodeficiency; liver transplantation