Differential Diagnosis
- Single most likely diagnosis
- E) HIV infection: The patient's recurrent infections, including pneumococcal bacteremia, thrush, and bacterial pneumonia, along with laboratory findings such as low IgA and IgG levels and elevated IgM levels, are suggestive of an immunodeficiency. The mother's symptoms, including persistent oral candidiasis, chronic diarrhea, and significant weight loss, also raise suspicion for HIV infection, which can be transmitted from mother to child.
- Other Likely diagnoses
- C) Common variable immunodeficiency: This condition is characterized by impaired antibody production, leading to recurrent infections. However, the patient's elevated IgM levels and the mother's symptoms are not typical of common variable immunodeficiency.
- A) Chediak-Higashi syndrome: This rare genetic disorder affects the immune system and is characterized by recurrent infections, but it typically presents with other features such as albinism and platelet dysfunction.
- Do Not Miss (ddxs that may not be likely, but would be deadly if missed.)
- E) HIV infection (also listed as the single most likely diagnosis): It is crucial to consider HIV infection in this patient, given the potential for mother-to-child transmission and the severity of the disease if left untreated.
- B) Chronic granulomatous disease: Although less likely, this condition can present with recurrent infections and should be considered to avoid missing a potentially treatable condition.
- Rare diagnoses
- D) Cystic fibrosis: While cystic fibrosis can increase the risk of infections, the patient's laboratory findings and the mother's symptoms do not support this diagnosis.
- A) Chediak-Higashi syndrome (also listed as an other likely diagnosis): As mentioned earlier, this rare genetic disorder affects the immune system, but its characteristic features are not all present in this patient.