A novel mutation in chronic granulomatous disease: Treating the family, not just the patient

摘要: Chronic Granulomatous Disease (CGD) is caused by genetic defects in the phagocyte NADPH oxidase leading to potentially severe infections with catalase positive micro-organisms. With innate immune system being affected this disease usually presents before age of 5 years involving skin, lung, liver or lymphnodes. Infections specific organisms, especially Burkholderia cepacia, Serratia, Nocardia and Chromobacterium violaceum prompt a workup for CGD patients. In addition, family history also warrants testing. The pattern inheritance varies across geographic regions world societies, X-linked most prevalent United States Europe. Affected patients require life-long therapy prophylactic antibiotics, antifungals, possibly interferon-gamma. Hematopoietic Stem Cell Transplantation only curative known date. Identification, diagnosis management involves multi-specialty team including Pediatrics, Immunology, Infectious Diseases, Hematology/Oncology often Pulmonology GI/Hepatology. Frequent follow up paramount good outcomes; have be recognized treated promptly preemptively. This challenging their families but significant barrier limited access care, resources other social situations. case report describes difficulties managing novel mutation multiple members different custody arrangements. It highlights importance close contact communication deciding on treatment options. Educating patient critical avoid complications allow shared decision making that ultimately leads better outcomes.