Hepatoportal venopathy due to disseminated Mycobacterium avium complex infection in a child with IFN-γ receptor 2 deficiency

Abstract

The control of intracellular microorganisms such as mycobacteria is largely dependent on the adaptive immune response, specifically the interaction of T helper cells and antigen presenting cells such as macrophages. The interferon gamma (IFN-gamma) pathway activation is crucial for containment and killing of mycobacteria, as evidenced by the fact that defects in this pathway often result in profound infections with both tuberculous and non-tuberculous mycobacteria. We herein report a case of a child with autosomal recessive IFN-gamma receptor 2 (IFN-gammaR2) deficiency who developed hepatic venopathy secondary to disseminated Mycobacterium avium complex (MAC) infection.

Antimicrobial Susceptibility Testing, Drug Resistance Mechanisms, and Therapy of Infections with Nontuberculous Mycobacteria

“…Despite aggressive treatment, the patient died. Those authors noted that a partial resolution of disease and decreases in the organism burden and granulomatous inflammation seemed to correlate with the duration of IFN-␣ and antibiotic treatment, thus emphasizing the pivotal role of the cytokine pathway in the control of NTM infection (309).…”

“…The IFN-␥ receptor complex is composed of IFN-␥ receptor 1 (R1) (ligand biding) and IFN-␥ R2 (signal transducing). These two receptors function together to upregulate multiple genes involved in immunity, including TNF-␣ and IL-12 (309).…”

“…Several reports have shown that patients who had defects in these pathways developed serious and sometimes fatal infections with MTBC and NTM (142,144,309).…”

Interferon Alpha Treatment of Patients with Impaired Interferon Gamma Signaling

“…Despite persistent infection over many years, patient 4 had significant clinical improvement only following the combination of IFN-α and IFN-γ therapy. Two other patients treated with IFN-α in the setting of IFN-γR deficiency have been previously reported [31–33]. These patients showed mild transient clinical improvement even though IFN-α therapy was introduced late in the course of severe disseminated disease.…”