Differential Diagnosis
The patient's presentation suggests a complex immunodeficiency disorder. The following differential diagnoses are considered:
- Single most likely diagnosis
- C. T cells: The patient's history of recurrent infections, including oral thrush, severe bronchiolitis, and failure to thrive, suggests a T-cell deficiency. The presence of dysmorphic features, such as a prominent nasal bridge, hypoplastic wing of the nose, shortened chin, and dysplastic ears, also supports this diagnosis, as some T-cell deficiencies are associated with congenital anomalies.
- Other Likely diagnoses
- F. B and T cells: The patient's recurrent infections and failure to thrive could also be consistent with a combined B- and T-cell immunodeficiency.
- D. Immunoglobulin A: The patient's history of recurrent sinus and upper respiratory tract infections could suggest an IgA deficiency, although the presence of other symptoms, such as oral thrush and dysmorphic features, makes this less likely.
- Do Not Miss
- G. Leukocyte adhesion: Leukocyte adhesion deficiency (LAD) is a rare condition that can present with recurrent infections and failure to thrive. Although less likely, it is a critical diagnosis to consider, as it can have significant implications for management and prognosis.
- B. Complement components C5-C9: Deficiencies in complement components C5-C9 can increase the risk of recurrent infections, particularly with Neisseria species. While less likely in this case, it is essential to consider this diagnosis to avoid missing a potentially treatable condition.
- Rare diagnoses
- E. Interleukin-12 receptor: Interleukin-12 receptor deficiency is a rare condition that can increase the risk of infections, particularly with mycobacteria and Salmonella. Although unlikely in this case, it is essential to consider this diagnosis in patients with recurrent infections and immunodeficiency.
- A. B cells: Isolated B-cell deficiency is less likely in this case, given the patient's history of oral thrush and dysmorphic features, which are more commonly associated with T-cell deficiencies. However, it is still essential to consider this diagnosis, as some B-cell deficiencies can present with similar symptoms.