Transient Hemophagocytosis With Deficient Cellular Cytotoxicity, Monoclonal Immunoglobulin M Gammopathy, Increased T-Cell Numbers, and HypomorphicNEMOMutation
- 1 May 2006
- journal article
- case report
- Published by American Academy of Pediatrics (AAP) in Pediatrics
- Vol. 117 (5), e1049-e1056
- https://doi.org/10.1542/peds.2005-2062
Abstract
X-linked osteopetrosis, anhydrotic ectodermal dysplasia, and immunodeficiency (XL-O-EDA-ID) is a disorder that is caused by hypomorphic mutations in the nuclear factor κB essential modulator (NEMO). These mutations lead to an impaired NF-κB activation. In vitro analyses and studies in animal models show that inhibition of NF-κB leads to a decrease of cytokine production and T-cell proliferation. Patients classically display poor or delayed inflammatory response to infections. We describe a boy with XL-O-EDA-ID, 1167-1168insC NEMO mutation, and recurrent infections. In early infancy, he experienced hemophagocytosis with transient deficiency of natural killer activity. Increased immunoglobulin M levels in blood resulted from a monoclonal immunoglobulin M gammopathy. Blood T-cell numbers were constantly increased, most probably resulting from a peripheral T-cell expansion. Our observations suggest that patients with hypomorphic NEMO mutations and repeated infections may experience inflammatory dysregulation.Keywords
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