Anhidrotic ectodermal dysplasia with immunodeficiency (EDA-ID) is rare disease which is characterized by hypohidrosis, dental abnormalities and immunodeficiency accompanying with non-infectious inflammatory disease. It is known to be caused by mutation of KIBKG and NFKBIA.
The medical record of EDA-ID patient was reviewed.
An 8-year-old girl was admitted because of fever. She presented with acute pyelonephritis by K. pneumoniae at two months of age and suffered from pneumonia by fungus, P. jirovecii and cytomegalovirus at her age of 5 months. She had took steroid since the age of 20 months under the diagnosis of juvenile idiopathic arthritis. At her age of 33 months she had open arthrotomy for osteomyelitis of elbow which was caused by M. tuberculosis. At the age of 6 years she was treated because of M. tuberculosis and nontuberculous mycobacteria (NTM) infection again. At the age of 7 years, she experienced disseminated zoster infection involving skin and brain, and non-infectious uveitis. In this time she suffered from septic shock by K. pneumoniae and pneumonia by NTM and candida. The levels of immunoglobulin G/A/M were normal but IgG2, IgG3 and IgG4 were low. While number of B cells was below 1%, proportions of class switched memory cells and naïve cells were normal. Genetic analysis for Mendelian susceptibility to mycobacterial diseases was failed but re-analysis for combined immune deficiency revealed NFKBIA mutation and she was diagnosed with EDA-ID.
We report the first case with autosomal dominant EDA-ID in Korea who suffered from serious recurrent infections by K. pneumoniae and NTM.