Interferon-gamma reduces the proliferation of M-tuberculosis within macrophages from a patient with a novel hypomorphic NEMO mutation

Interferon-gamma reduces the proliferation of M-tuberculosis within macrophages from a patient with a novel hypomorphic NEMO mutation

Author Khan, Taj Ali Google Scholar
Schimke, Lena Friederike Google Scholar
Amaral, Eduardo Pinheiro Google Scholar
Ishfaq, Muhammad Google Scholar
Barbosa Bonfim, Caio Cesar Google Scholar
Rahman, Hazir Google Scholar
Iqbal, Asif Google Scholar
D'Imperio Lima, Maria Regina Google Scholar
Costa-Carvalho, Beatriz Tavares Autor UNIFESP Google Scholar
Cabral-Marques, Otavio Google Scholar
Condino-Neto, Antonio Google Scholar
Abstract X-linked ectodermal dysplasia with immunodeficiency (XL-EDA-ID) is caused by mutations in the nuclear factor-kappa B essential modulator (NEMO) gene. Here, we report the clinical and genetic features of a XL-EDA-ID patient who developed bacillus Calmette-Guerin infection. Patient lymphocytes failed to degrade IB-, and sequencing of NEMO identified the novel mutation c.1238A>C/p.H413P. Furthermore, patient monocyte-derived macrophages ingested Mycobacterium tuberculosis normally, but failed to control the intracellular proliferation of bacilli, a defect which was improved in the presence of interferon-gamma (IFN-). This work expands the genetic spectrum of XL-EDA-ID and demonstrates improvement in macrophage function in a NEMO-deficient patient by IFN-.
Keywords BCGitis
ectodermal dysplasia
NEMO
xmlui.dri2xhtml.METS-1.0.item-coverage Hoboken
Language English
Sponsor Fundação de Amparo à Pesquisa do Estado de São Paulo (FAPESP)
Conselho Nacional de Desenvolvimento Científico e Tecnológico (CNPq)
Date 2016
Published in Pediatric Blood & Cancer. Hoboken, v. 63, n. 10, p. 1863-1866, 2016.
ISSN 1545-5009 (Sherpa/Romeo, impact factor)
Publisher Wiley-Blackwell
Extent 1863-1866
Origin http://dx.doi.org/10.1002/pbc.26098
Access rights Closed access
Type Article
Web of Science ID WOS:000383371500028
URI https://repositorio.unifesp.br/handle/11600/57039

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