INTRODUCTION
Chronic granulomatous disease (CGD) is a primary immunodeficiency disorder of phagocytes resulting from impaired killing of bacteria and fungi. It may present anytime from infancy to late adulthood; however, the vast majority of affected individuals are diagnosed before age five. There are two inheritance patterns: x-linked and autosomal recessive.
This report aims to present a family with a late diagnosis of CGD.
CLINICAL CASE:
Index Case: F.C., a 31-year-old healthy man, was admitted to the hospital with headache and generalized seizures secondary to a right temporal nodule. Additionally, a nodular lung lesion was found out in the upper segment of the right inferior lobe, with a biopsy demonstrating noncaseating granulomas with giant cells and fungal septate hyphae identified as Cladophialophora bantanii, a dematiaceous fungus. HIV and tuberculosis tests were negative. There was no evidence of oncologic disease, and immunologic tests were negative for Common Variable Immunodeficiency.
Family History: E.C., his brother, a 35-year-old man, had BCGitis at the age of 2, and at 15, he developed axillary adenopathy with granulomas diagnosed as sarcoidosis. In his twenties, he experienced a prolonged fever syndrome associated with polyadenopathies, believed to be sarcoidosis again.
G.L., their mother, a 70-year-old woman, was diagnosed with Discoid Lupus when she was 30 and Rheumatoid arthritis in her 50s.
Based on the family history and immunological evaluation, they underwent a study using flow cytometric dihydrorhodamine (DHR) neutrophil respiratory burst assay, which revealed low enzyme activity in both brothers and the mother as a carrier. A molecular test was conducted, revealing a mutation in NM_000397.3:c.925G>A (p.Glu309Lys). Both brothers received prophylaxis with itraconazole, trimethoprim-sulfamethoxazole, and interferon gamma.
DISCUSSION
Our patients revealed delayed initial manifestation, however, any adult with unexplained infections or granuloma formation should be investigated for inborn errors of immunity.
