I got this question more by ruling out everything else. Not B because no symptoms of CHS (albinism, primary hemostasis deficiency, peripheral neuropathy), not C because Streptococcus is catalase negative, not D because no symptoms of DiGeorge (cardiac defects, facial defects, no missing thymus), not F because IgA deficiency would have airway and GI infections. Recurrent ear infections doesn't seem related to IgA. That leaves me either Bruton agammaglobinemia and IgG2 deficiency. And Bruton's is more commonly seen in males. So I went with A.
neurotic999Also, lack of tonsillar tissue points in the direction of B cell dysfunction of some sort.+
surgerydoctorca_sguAlso, don't forget the small relevant details that are testable with this disease. It's important to note that this disease is caused by a defect in the BTK gene (a tyrosine kinase). When this is defective B cells cannot reach maturation. Additionally, this has an X-linked recessive inheritance pattern and is more frequently seen in boys. +
submitted by โchaosawaits(92)
I got this question more by ruling out everything else. Not B because no symptoms of CHS (albinism, primary hemostasis deficiency, peripheral neuropathy), not C because Streptococcus is catalase negative, not D because no symptoms of DiGeorge (cardiac defects, facial defects, no missing thymus), not F because IgA deficiency would have airway and GI infections. Recurrent ear infections doesn't seem related to IgA. That leaves me either Bruton agammaglobinemia and IgG2 deficiency. And Bruton's is more commonly seen in males. So I went with A.