Abstract
A, Genealogical tree for the kindred. Arrow highlights index case. Asterisks denote family members who died within the first 2 months of life with febrile illnesses. B, Histology showing granuloma in skin by hematoxylin and eosin staining.
Highlights
To the Editor: Nuclear factor kappa B (NF-kB) signaling is known to be important for host protection against infection
Proteins of the NF-kB transcription factor must be released from constitutive interaction with inhibitory IkB proteins (IkBa, IkBb, and IkBε), which sequester NF-kB complexes in the cytoplasm
This occurs through phosphorylation and degradation of IkB proteins by the upstream IkB kinase (IKK) complex, for example, following stimulation of cell surface receptors
Summary
To the Editor: Nuclear factor kappa B (NF-kB) signaling is known to be important for host protection against infection. At the age of 18 months, our patient had conical teeth, hepatosplenomegaly, and a severe skin rash (Fig 1, A and B) This was confirmed to be persistent BCGosis on skin biopsy showing a mixed inflammatory infiltrate and possible epithelioid granuloma formation (Fig E1, B), with acid-fast bacilli visible and a PCR positive for DNA of Mycobacterium tuberculosis complex, but negative for the esat-6 gene. INF-g treatment was added at 50 mg/m2 and gradually increased to 200 mg/m2.7 This was not well tolerated, and she developed ulcerating skin inflammation and increasing hepatosplenomegaly necessitating low-dose steroid treatment (0.5 mg/kg) and IFN-g treatment was withdrawn She continued to have recurrent episodes of fever and increased inflammatory markers that most likely reflected her BCGosis. We demonstrate that an autosomal-recessive human IKKb deficiency has a clinical presentation, which resembles both
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