A Case Report on Disseminated Candida Lusitaniae Infection and Tuberculous Lymphadenitis in Patient with Compound Heterozygous Pair of Mutations of CYBA Chronic Granulomatous Disease

Abstract

Chronic granulomatous disease (CGD) is an unusual hereditary chief immune- deficiency disease, which is characterized by nicotinamide adenine dinucleotide phosphate oxidase (NADPH) system malfunction. In this type of disease the phagocytic cells could not be able to destroy the pathogens at the time of development of an infection. This will result in patient's susceptibility to recurrent and intractable microbial infections. The disease is considered to be a genetically heterogeneous having equal susceptibility among all the ethnic groups. Patients with (CGD) suffer from persistent, fatal fungal and bacterial infections of the skin, the lymph nodes, airways, brain, liver, and bones. Whenever there is an infection with any odd microorganisms the susceptibility for CGD rises. In our article we aim to report a case study of a 4 months old female with disseminated candidiasis Tuberculosis lymphadenitis in details. The infant was treated successfully with antifungal voriconazole and broad spectrum antibacterial agents as well as anti-mycobacterial medications. When the patient was followed up later, it showed regression of the abnormal reports. But later developed CNS Candida and disseminated tuberculous with sequalae. Diagnosis was confirmed as heterozygous CYBA for p22phox, defect by genetic analysis. P22phox is an omnipresent protein which is coded by the gene CYBA located on the long arm of chromosome16. P22phox it is crucial factor of the enzyme superoxide-generating (NADPH) oxidase. Infection with bacteria, Candida lusitaniae is maximum among the patients who are suffering with haematological malignancies. The chance of the infection rises when the patient is receiving chemotherapy. This type of infection usually occurs among the patients who are presenting fungal infection that has already spread throughout the blood and among them only 7.3% of the patients are showing the symptomatic manifestations of peritonitis. However, the most difficult point is that the laboratory culture is not the answer for the growth of the particular microorganisms as these organisms are extremely difficult to culture or separate.