摘要
BACKGROUND Dedicator of cytokinesis 8(DOCK 8) deficiency,also known as autosomal recessive hyper immunoglobulin E(IgE) syndrome,is a combined immunodeficiency disease that was first recognized in 2009.It is caused by genetic alterations(mutations or deletions) in the DOCK 8 gene and is characterized by multiple allergies,elevated IgE levels,and susceptibility to viral and bacterial infections.Early diagnosis is critical to optimize the success of stem cell transplantation.CASE SUMMARY This study reports the case of a pediatric patient with DOCK 8 deficiency who had negative genetic testing using multiplex primary immunodeficiency(PID) panel and whole-exome sequencing(WES) with a next-generation sequencing method.He presented with chronic diarrhea and was managed as celiac disease based on previous negative workup for immunodeficiency and duodenal biopsy.He developed a generalized vesicular rash which was thought to be dermatitis herpetiformis associated with celiac disease.However,it turned out to be Eczema herpeticum based on positive herpes simplex virus from blood and lesions.The diagnosis was re-evaluated after the child was found to have multiple viral,bacterial,and parasitic co-infections(herpes simplex virus,cytomegalovirus,Epstein-Barr virus,Salmonella,and cryptosporidiosis).Re-evaluation with target gene testing with copy number variation(CNV) analysis and Multiplex Ligation Probe Amplification(MLPA) showed a large homozygous deletion in the DOCK 8 gene,confirming the diagnosis of DOCK 8 deficiency.CONCLUSION Targeted gene testing with CNV analysis might detect deletions that can be missed by WES for diagnosing patients with PID.
