Atypical Mycobacteriosis, Familial

Common Name(s)

Atypical Mycobacteriosis, Familial, Disseminated atypical mycobacterial infection

Mendelian susceptibility to mycobacterial disease (MSMD) is a rare congenital syndrome conferring a predisposition to infections by weakly virulent mycobacteria, such as bacillus Calmette-Guerin (BCG) vaccines and nontuberculous environmental bacteria. Affected individuals are also susceptible to the more virulent species Mycobacterium tuberculosis. Systemic salmonellosis, either typhoidal or, more commonly, nontyphoidal, occurs in about half of all patients with MSMD. Otherwise, most patients are resistant to most other microbial infections (review by {1:Al-Muhsen and Casanova, 2008}). IMD27A results from autosomal recessive (AR) IFNGR1 deficiency. Patients with complete AR IFNGR1 deficiency have a severe clinical phenotype characterized by early and often fatal mycobacterial infections. BCG and environmental mycobacteria are the most frequent pathogens, and infection typically begins before the age of 3 years. Plasma from patients with complete AR IFNGR1 deficiency usually contains large amounts of IFNG ({147570}), and their cells do not respond to IFNG in vitro. In contrast, cells from patients with partial AR IFNGR1 deficiency, which is caused by a specific mutation in IFNGR1, retain residual responses to high IFNG concentrations. Patients with partial AR IFNGR1 deficiency are susceptible to BCG and environmental mycobacteria, but they have a milder clinical disease and better prognosis than patients with complete AR IFNGR1 deficiency. The clinical features of children with complete AR IFNGR1 deficiency are usually more severe than those in individuals with AD IFNGR1 deficiency (IMD27B), and mycobacterial infection often occurs earlier (mean age of 1.3 years vs 13.4 years), with patients having shorter mean disease-free survival. Salmonellosis is present in about 5% of patients with AR or AD IFNGR1 deficiency, and other infections have been reported in single patients (review by {1:Al-Muhsen and Casanova, 2008}). Genetic Heterogeneity of MSMD MSMD displays a high degree of genetic heterogeneity. In addition to IMD27A and IMD27B due to mutation in the IFNGR1 gene, other forms of MSMD include IMD28 ({614889}) due to mutation in the IFNGR2 gene ({147569}) on chromosome 21q22; IMD29 ({614890}) due to mutation in the IL12B gene ({161561}) on chromosome 5q33.3; IMD30 ({614891}) due to mutation in the IL12RB1 gene ({601604}) on chromosome 19p13.1; IMD31 ({614892}) due to mutation in the STAT1 gene ({600555}) on chromosome 2q32; IMD32 due to mutation in the IRF8 gene ({601565}) on chromosome 16q24.1; IMD33 ({300636}) due to mutation in the IKBKG gene ({300248}) on chromosome Xq28; and IMD34 ({300645}) due to mutation in the CYBB gene ({300481}) on chromosome Xp11.4. {1:Al-Muhsen and Casanova (2008)} and {3:Cottle (2011)} reviewed genetic heterogeneity of MSMD.
 

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