Skip to main page content
U.S. flag

An official website of the United States government

Dot gov

The .gov means it’s official.
Federal government websites often end in .gov or .mil. Before sharing sensitive information, make sure you’re on a federal government site.

Https

The site is secure.
The https:// ensures that you are connecting to the official website and that any information you provide is encrypted and transmitted securely.

Access keys NCBI Homepage MyNCBI Homepage Main Content Main Navigation
Case Reports
. 2016;26(4):268-271.
doi: 10.18176/jiaci.0068.

Disseminated BCG Infectious Disease and Hyperferritinemia in a Patient With a Novel NEMO Mutation

Karaca Ne  1 , Aksu G  1 , Ulusoy E  1 , Cavusoglu C  2 , Oleaga-Quintas C  3   4 , Nieto-Patlan A  3   4 , Richard Me  3   4 , Deswarte C  3   4 , Casanova Jl  3   4   5   6   7 , Bustamante J #  3   4   5   8 , Kutukculer N #  1
Affiliations
Case Reports

Disseminated BCG Infectious Disease and Hyperferritinemia in a Patient With a Novel NEMO Mutation

Karaca Ne et al. J Investig Allergol Clin Immunol. 2016.
No abstract available

Keywords: BCG-osis; Ectodermal dysplasia; Hyperferritinemia; Interferon; NEMO mutation.

PubMed Disclaimer

Figures

Figure
Figure
Disseminated mycobacterial infections and NEMO deficiency. A, Acid-fast stained mycobacteria appeared as purple rods within hepatocytes in a Ziehl-Neelsen stain (left, at 8 months of age; right, at 2 years of age). B, T1-weighted magnetic resonance image of the brain (left, normal; right, multiple ring-enhancing lesions), with surrounding edema, consistent with an abscess in the cerebral hemispheres. C, Protruding cutaneous lesions on the arm and left lumbar region. D, Electropherograms of a wild-type NEMO carrier (healthy control and both parents) and the patient. E, Production of IFN-γ after activation of peripheral blood mononuclear cells from a healthy control, a NEMO-deficient patient, the patient, and the patient's father.
See this image and copyright information in PMC

References

    1. Picard C, Casanova JL, Puel A. Infectious diseases in patients with IRAK-4, MyD88, NEMO, or IκBα deficiency. Clin Microbiol Rev. 2011;24:490–7. - PMC - PubMed
    1. Bustamante J, Boisson-Dupuis S, Abel L, Casanova JL. Mendelian susceptibility to mycobacterial disease: genetic, immunological, and clinical features of inborn errors of IFN-γ immunity. Semin Immunol. 2014;26:454–70. - PMC - PubMed
    1. Puel A, Reichenbach J, Bustamante J, Ku CL, Feinberg J, Döffinger R, Bonnet M, Filipe-Santos O, de Beaucoudrey L, Durandy A, Horneff G, Novelli F, Wahn V, Smahi A, Israel A, Niehues T, Casanova JL. The NEMO mutation creating the most-upstream premature stop codon is hypomorphic because of a reinitiation of translation. Am J Hum Genet. 2006;78:691–701. - PMC - PubMed
    1. Aksu G, Genel F, Koturoglu G, Kurugol Z, Kutukculer N. Serum immunoglobulin (IgG, IgM, IgA) and IgG subclass concentrations in healthy children: a study using nephelometric technique. Turk J Pediatr. 2006;48:19–24. - PubMed
    1. Marciano BE, Huang CY, Joshi G, Rezaei N, Carvalho BC, Allwood Z, Ikinciogullari A, Reda SM, Gennery A, Thon V, Espinosa-Rosales F, Al-Herz W, Porras O, Shcherbina A, Szaflarska A, Kiliç Ş , Franco JL, Gómez Raccio AC, Roxo P, Jr, Esteves I, Galal N, Grumach AS, Al-Tamemi S, Yildiran A, Orellana JC, Yamada M, Morio T, Liberatore D, Ohtsuka Y, Lau YL, Nishikomori R, Torres-Lozano C, Mazzucchelli JT, Vilela MM, Tavares FS, Cunha L, Pinto JA, Espinosa-Padilla SE, Hernandez-Nieto L, Elfeky RA, Ariga T, Toshio H, Dogu F, Cipe F, Formankova R, Nuñez-Nuñez ME, Bezrodnik L, Marques JG, Pereira MI, Listello V, Slatter MA, Nademi Z, Kowalczyk D, Fleisher TA, Davies G, Neven B, Rosenzweig SD. BCG vaccination in patients with severe combined immunodeficiency: complications, risks, and vaccination policies. J Allergy Clin Immunol. 2014;133:1134–41. - PMC - PubMed

Publication types