Molecular immunity to mycobacteria: knowledge from the mutation and phenotype spectrum analysis of Mendelian susceptibility to mycobacterial diseases

Qu, Hui‐Qi; Fisher‐Hoch, Susan P.; McCormick, Joseph B.

doi:10.1016/j.ijid.2011.01.004

Cited by 39 publications

(27 citation statements)

References 79 publications

(89 reference statements)

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“…STAT1 mutations can lead to a wide range of clinical manifestations [4, 13]. Recently, dominant gain of function mutations in the coiled coil domain of STAT1 have been described as causing susceptibility to chronic mucocutaneous candidiasis [14, 15].…”

Section: Discussionmentioning

confidence: 99%

A Novel STAT1 Mutation Associated with Disseminated Mycobacterial Disease

et al. 2012

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STAT1 is a key component of Interferon (IFN)-γ and IFN-α signaling and mediates protection against mycobacteria, fungal, viral infections, and cancer. Dominant negative inhibitory as well as gain of function heterozygous STAT1 mutations demonstrate that IFN-γ driven cellular responses need to be tightly regulated to control infections. We describe an autosomal dominant mutation in the SH2 domain of STAT1 that disrupts protein phosphorylation, c.1961 T>A (M654K). The mutant allele does not permit STAT1 phosphorylation, and impairs STAT1 phosphorylation of the wild type allele. Protein dimerization is preserved but DNA binding activity, IFN-γ driven GAS-luciferase activity, and expression of IFN-γ target genes are reduced. IFN-α driven ISRE response, but not IFN-α driven GAS response, are preserved when cells are co-transfected with wild type and the mutant STAT1 constructs. M654K exerts a dominant negative effect on IFN-γ related immunity and is recessive for IFN-α induced immune function.

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Section: Discussionmentioning

confidence: 99%

A Novel STAT1 Mutation Associated with Disseminated Mycobacterial Disease

et al. 2012

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“…The exact reasons as to why only a number of the individuals infected with M. tuberculosis develop clinical disease remain unknown. There is some evidence that suggests that host genetic factors may be important risk factors for the development of tuberculosis (Guide and Holland, 2002;Hashemi et al, 2011b;Qu et al, 2011).…”

Section: Discussionmentioning

confidence: 99%

R620W functional polymorphism of protein tyrosine phosphatase non-receptor type 22 is not associated with pulmonary tuberculosis in Zahedan, southeast Iran

Kouhpayeh

Hashemi²,

Hashemi³

et al. 2012

Genet. Mol. Res.

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ABSTRACT. The protein tyrosine phosphatase non-receptor type 22 (PTPN22) gene, which encodes an intracellular lymphoid-specific phosphatase, is considered an important regulator of T-cell activation. We investigated a possible association between the PTPN22 C1858T (R620W) polymorphism and pulmonary tuberculosis in an Iranian population. Single nucleotide polymorphisms of PTPN22 C1858T (rs2476601) were genotyped in 172 pulmonary tuberculosis cases and 204 normal subjects from Zaheden, Iran. Frequencies of genotypes CC, CT and TT of the PTPN22 C1858T polymorphism were 98.3, 1.7 and 0% in the pulmonary tuberculosis patients, and 96.1, 3.9 and 0% in the control group, respectively (P = 0.239). The frequency of the minor (T) allele was 0.8% in pulmonary tuberculosis patients and 2.0% in controls. Significant differences were not observed in genotype or allele frequencies of PTPN22 C1858T in the comparison between pulmonary tuberculosis patients and healthy subjects in our Iranian population sample.

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“…Since IFN-plays an important role in defense against mycobacterial infections [16][17][18][19] and mutation of IFN-R is associated with mycobacterial infection [19], we examined production of IFNby T cells and expression of IFN-R on monocytes. Peripheral blood MNC were stimulated by anti-CD3 plus anti-CD28 for 48 hours and IFN-secretion was measured by ELISA assay.…”

Section: Interferon Secretion and Ifn-r Expressionmentioning

confidence: 99%

Selective IgM Deficiency with T Cell Defects and Mycobacterium Avium Complex (MAC) Infection

Gupta¹

2012

TOIJ

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Primary selective IgM deficiency in adults is associated with normal T cell function, and patients clinically manifest with recurrent pyogenic bacterial infections. In this study, we present three patients with selective IgM deficiency with significant defects in T cells and NK cell cytotoxicity, and Mycobacterial avium intracellulare (MAC) infection. T cell defect is characterized by markedly reduced numbers of T cells and T cell subsets, decreased T cell proliferative responses to mitogens and antigens, including PPD, and significantly decreased production of IFN-; however, expression of IFN-receptors is normal. We propose that selective IgM deficiency with significant T cell functional defects might represent a distinct clinical entity, which is associated with increased susceptibility to MAC infection.

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Molecular immunity to mycobacteria: knowledge from the mutation and phenotype spectrum analysis of Mendelian susceptibility to mycobacterial diseases

Cited by 39 publications

References 79 publications

A Novel STAT1 Mutation Associated with Disseminated Mycobacterial Disease

A Novel STAT1 Mutation Associated with Disseminated Mycobacterial Disease

R620W functional polymorphism of protein tyrosine phosphatase non-receptor type 22 is not associated with pulmonary tuberculosis in Zahedan, southeast Iran

Selective IgM Deficiency with T Cell Defects and Mycobacterium Avium Complex (MAC) Infection

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