A male baby who has suffered from persistent Candida fungal infections and several bouts of pneumonia all before the age of 6 months is found to have some developmental problems as well as low-set ears.Lab testing reveals an absence of T cells.What is the most likely diagnosis?

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Quizplus · Accepted Answer

The patient is presenting with a triad of recurrent infections, developmental problems, and low-set ears, which is characteristic of DiGeorge syndrome. The absence of T cells confirms the diagnosis, as DiGeorge syndrome is caused by a partial or complete deletion of chromosome 22q11, which includes the gene for thymic development. Selective IgA deficiency and common variable immunodeficiency are not associated with low-set ears or developmental problems. Waldenström's macroglobulinemia is a B-cell disorder and would not present with a complete absence of T cells.

A Male Baby Who Has Suffered from Persistent Candida Fungal