2001
DOI: 10.1128/cdli.8.1.133-137.2001
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A Point Mutation in a Domain of Gamma Interferon Receptor 1 Provokes Severe Immunodeficiency

Abstract: Gamma interferon (IFN-␥) and the cellular responses induced by it are essential for controlling mycobacterial infections. Most patients bearing an IFN-␥ receptor ligand-binding chain (IFN-␥R1) deficiency present gross mutations that truncate the protein and prevent its expression, giving rise to severe mycobacterial infections and, frequently, a fatal outcome. In this report a new mutation that affects the IFN-␥R1 ligandbinding domain in a Spanish patient with mycobacterial disseminated infection and multifoca… Show more

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Cited by 60 publications
(34 citation statements)
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References 30 publications
(40 reference statements)
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“…80 The IFNgR1 gene mutations are inherited as autosomal recessive traits and either abolish receptor expression 78,[80][81][82][83][84][85] or binding of the receptor to IFNg. [86][87] Partial IFNgR1 deficiency has also been described in two siblings, one of whom developed disseminated BCG infection and the other clinical tuberculosis. 88 In addition, there are two reports of disseminated mycobacterial infections caused by dominant IFNgR1 gene mutations.…”
Section: Familial Atypical Mycobacteriosis and Abnormal Ifng Signallingmentioning
confidence: 99%
“…80 The IFNgR1 gene mutations are inherited as autosomal recessive traits and either abolish receptor expression 78,[80][81][82][83][84][85] or binding of the receptor to IFNg. [86][87] Partial IFNgR1 deficiency has also been described in two siblings, one of whom developed disseminated BCG infection and the other clinical tuberculosis. 88 In addition, there are two reports of disseminated mycobacterial infections caused by dominant IFNgR1 gene mutations.…”
Section: Familial Atypical Mycobacteriosis and Abnormal Ifng Signallingmentioning
confidence: 99%
“…4) may be due to recessive mutations that either preclude surface expression of the receptor ligand-binding chain (6,7,(27)(28)(29)(30) or result in normal surface expression of IFN␥R1 chains that do not bind IFN␥ (31,32). One child has been reported to have complete IFN␥R2 deficiency (Fig.…”
Section: Genetics and Immunologymentioning
confidence: 99%
“…She also had a mutation in the gamma interferon receptor 1 chain. Since the initial descriptions, over 50 patients with mutations in the gamma interferon receptor 1 chain have been described (6,9,65,83,123,143,223,240,243). Gamma interferon and TNF-␣ are the final common mediators of granuloma formation and intracellular killing.…”
Section: Disorders Associated With Defective Responses To Gamma Intermentioning
confidence: 99%