Differential Diagnosis
- Single most likely diagnosis
- Chronic Granulomatous Disease (CGD): This diagnosis is most likely due to the patient's history of recurrent infections with catalase-positive organisms (Staphylococcus aureus and Aspergillus niger), which is a hallmark of CGD. The patient's family history of a maternal uncle dying in childhood from recurrent infections also supports this diagnosis, as CGD is an X-linked recessive disorder.
- Other Likely diagnoses
- Hyper-IgE syndrome: This condition is characterized by recurrent cutaneous and pulmonary infections, often with Staphylococcus aureus, and could be considered given the patient's history of skin abscesses and lung abscess. However, the presence of Aspergillus niger infection and the specific pattern of inheritance make CGD more likely.
- Leukocyte adhesion deficiency: This rare immunodeficiency is characterized by recurrent infections, particularly of the skin and soft tissues, due to impaired leukocyte adhesion and migration. While possible, the specific organisms involved and the family history point more strongly towards CGD.
- Do Not Miss
- HIV infection: Although less likely given the specific pattern of infections and family history, HIV infection can cause recurrent infections and should be considered to avoid missing a potentially treatable condition.
- Tuberculosis: Given the patient's symptoms of fever and lymphadenopathy, tuberculosis (TB) should be considered, especially if the patient has been exposed to TB or lives in an area with high TB prevalence. However, the growth of Aspergillus niger and the patient's history make this less likely.
- Rare diagnoses
- Other primary immunodeficiencies (e.g., severe combined immunodeficiency, Wiskott-Aldrich syndrome): These conditions can present with recurrent infections but are less likely given the specific pattern of infections and the family history.
- Neutrophil disorders (e.g., congenital neutropenia, Chédiak-Higashi syndrome): These rare conditions affect neutrophil function or number and could lead to recurrent infections. However, they are less likely than CGD given the patient's presentation and family history.