Differential Diagnosis
- Single most likely diagnosis:
- Chronic Granulomatous Disease (CGD): This condition is characterized by recurrent infections, such as skin abscesses, osteomyelitis, and pneumonia, due to impaired leukocyte microbicidal activity. The patient's history of recurrent infections, particularly the admission for osteomyelitis and pneumonia, and the family history of a maternal uncle dying from fungal pneumonia, supports this diagnosis. The presence of a warm, erythematous macular rash and tender lymph nodes also aligns with CGD.
- Other Likely diagnoses:
- Leukocyte Adhesion Deficiency (LAD): This condition is marked by abnormal leukocyte adhesion, leading to recurrent infections, particularly of the skin and soft tissues. While the patient's symptoms could fit LAD, the specific pattern of infections and the family history points more strongly towards CGD.
- Hyper-IgE Syndrome (Job Syndrome): Characterized by elevated IgE levels, eczema, and recurrent cutaneous and pulmonary infections. The patient's rash and history of infections could suggest this diagnosis, but the absence of mentioned eczema or elevated IgE levels makes it less likely.
- Do Not Miss:
- Severe Combined Immunodeficiency (SCID): Although less likely given the patient's ability to mount some response to infections (evidenced by the presence of abscesses and lymph node enlargement), SCID is a critical diagnosis not to miss due to its severe prognosis and the need for early intervention.
- HIV Infection: Recurrent infections can be a hallmark of HIV infection. Given the severity of the patient's infections, HIV should be considered, especially if there's any risk factor in the history that hasn't been mentioned.
- Rare diagnoses:
- Wiskott-Aldrich Syndrome: Characterized by eczema, thrombocytopenia, and recurrent infections. The absence of mentioned eczema or thrombocytopenia makes this diagnosis less likely.
- Chediak-Higashi Syndrome: Involves impaired leukocyte degranulation, leading to recurrent infections. While possible, the specific pattern of infections and other symptoms doesn't strongly suggest this diagnosis without additional findings like albinism or bleeding tendencies.