<p>Geographic Variability and Pathogen-Specific Considerations in the Diagnosis and Management of Chronic Granulomatous Disease</p>

Abstract

Chronic granulomatous disease (CGD) is a rare but serious primary immunodeficiency with varying prevalence and rates of X-linked and autosomal recessive disease worldwide. Functional defects in the phagocyte nicotinamide adenine dinucleotide phosphate oxidase complex predispose patients to a relatively narrow spectrum of bacterial and fungal infections that are sometimes fastidious and often difficult to identify. When evaluating and treating patients with CGD, it is important to consider their native country of birth, climate, and living situation, which may predispose them to types of infections that are atypical to your routine practice. In addition to recurrent and often severe infections, patients with CGD and X-linked female carriers are also susceptible to developing many non-infectious complications including tissue granuloma formation and autoimmunity. The DHR-123 oxidation assay is the gold standard for making the diagnosis and it along with genetic testing can help predict the severity and prognosis in patients with CGD. Disease management focuses on prophylaxis with antibacterial, antifungal, and immunomodulatory medications, prompt identification and treatment of acute infections, and prevention of secondary granulomatous complications. While hematopoietic stem-cell transplantation is the only widely available curative treatment for patients with CGD, recent advances in gene therapy may provide a safer, more direct alternative.

Description of BCG and Tuberculosis Disease in a Cohort of 79 Patients with Chronic Granulomatous Disease

“…In North America and Europe, TB is diagnosed in 1-2% of patients with CGD (23,24). The variability in TB frequency in patients with CGD between countries suggests that exposure to the pathogen plays an essential role in mycobacterial diseases in genetically susceptible patients (25). The frequency of BCG side effects and TB was similar in patients with pathogenic variants of the X-linked CYBB gene versus recessive genes, as previously reported by Ishikawa et al (26).…”

Liver Abscesses as a Sign of Chronic Granulomatous Disease in Adolescent

“…Primary Immunodeficiency disorders should be considered when there are red flags warning of immunodeficiency investigations (Table 2 ) [ 12 ]. CGD is considered when there is recurrent pulmonary infection or abscesses in unusual locations [ 13 ].…”

Enfermedad por micobacterias en pacientes con enfermedad granulomatosa crónica

“…El cuadro clínico puede ser muy variable, con algunos lactantes que sufren varias manifestaciones, mientras que otros parecen estar mucho menos enfermos. 10,18 Las infecciones que desarrollan los pacientes con EGC suelen ser recurrentes, a pesar de la terapia antibiótica agresiva; a menudo presentan neumonía, linfadenitis, abscesos en el hígado y tejido subcutáneo e infección en huesos. Los patógenos identificados con mayor frecuencia son Asper-gillus spp., Staphylococcus aureus, Burkholderia cepacia, Serratia marcescens, Nocardia spp., Salmonella spp., Escherichia coli y Klebsiella spp.…”

“…Los patógenos identificados con mayor frecuencia son Asper-gillus spp., Staphylococcus aureus, Burkholderia cepacia, Serratia marcescens, Nocardia spp., Salmonella spp., Escherichia coli y Klebsiella spp. 18 Recientes estudios también revelan que los pacientes con EGC tienen una susceptibilidad a Mycobacterium bovis atenuada, empleada en la inmunización de los recién nacidos contra la tuberculosis (vacuna BCG). 19,20,21 Las infecciones por Micobacterium tuberculosis también son frecuentes en la EGC, especialmente en países donde la tuberculosis es endémica.…”