Premium
Interferon‐gamma reduces the proliferation of M. tuberculosis within macrophages from a patient with a novel hypomorphic NEMO mutation
Author(s) -
Khan Taj Ali,
Schimke Lena Friederike,
Amaral Eduardo Pinheiro,
Ishfaq Muhammad,
Barbosa Bonfim Caio César,
Rahman Hazir,
Iqbal Asif,
D'Império Lima Maria Regina,
Costa Carvalho Beatriz Tavares,
CabralMarques Otavio,
CondinoNeto Antonio
Publication year - 2016
Publication title -
pediatric blood and cancer
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.116
H-Index - 105
eISSN - 1545-5017
pISSN - 1545-5009
DOI - 10.1002/pbc.26098
Subject(s) - medicine , mutation , tuberculosis , interferon gamma , cancer research , immunology , virology , cytokine , genetics , biology , pathology , gene
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–Guérin infection. Patient lymphocytes failed to degrade IκB‐α, 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‐γ). This work expands the genetic spectrum of XL‐EDA‐ID and demonstrates improvement in macrophage function in a NEMO ‐deficient patient by IFN‐γ.