• Euri Seo, Beom Hee Lee, Joo Hoon Lee, Young Seo Park, Ho Joon Im, and Jina Lee.
• Department of Pediatrics, Asan Medical Center Children's Hospital, University of Ulsan College of Medicine, Seoul.
• Medicine (Baltimore). 2021 Apr 2; 100 (13): e20866e20866.

IntroductionDOCK8 deficiency is a primary immunodeficiency characterized by recurrent infections, severe allergic disease, and autoimmunity. Here, we report a patient with DOCK8 deficiency that was initially presented as systemic lupus erythematosus (SLE) without recurrent infections and treated with hematopoietic stem cell transplantation (HSCT).Patient ConcernsA 16-month-old boy with a previous history of eczema developed high fever and hand and foot swelling. Over time, multiple purpura, oral ulcers, and oliguria developed with a persistent fever. His laboratory findings showed anemia, thrombocytopenia, and coagulopathy with a high level of C-reactive protein (CRP). No definite pathogens were identified. The complement fractions C3, C4, and CH50 were low. Autoantibodies including antinuclear antibody (ANA) and anti-ds DNA antibody were positive. He definitively satisfied the 2015 ACR/SLICC revised criteria for the diagnosis of SLE (7 points out of 16); therefore, he was treated with a steroid. Lupus nephritis was confirmed by renal biopsy later. Considering the early-onset SLE, partial exome sequencing was performed.DiagnosisOne heterozygous missense variant, c.5536A>G (p.Lys1846Glu), which was inherited from his father, and heterozygous deletion of exon 1 to 8 inherited from his mother were found. Through the results of the genetic testing, the patient was confirmed to have DOCK8 deficiency.InterventionsAt the age of 28 months, he received haploidentical HSCT from his mother as a donor.OutcomesLaboratory findings including complement fractions C3, C4, CH50, anti-ds DNA antibody, and the ANA became normal after HSCT. Currently, at 12 months post-HSCT, he is doing well, without any autoimmune features or infections.ConclusionsDOCK8 deficiency can be presented as autoimmune disease such as SLE. Encountering a child diagnosed with SLE at a very young age, pediatricians should consider immunodeficiency syndrome including DOCK8 deficiency.Copyright © 2021 the Author(s). Published by Wolters Kluwer Health, Inc.

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