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Adenosine deaminase deficiency
31%
45/146
Defect in a tyrosine kinase
41%
60/146
Microtubule dysfunction
10%
14/146
Mutation of a DNA repair enzyme
8%
11/146
Vitamin deficiency
12/146
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The patient is presenting with recurrent infections, scant lymphoid tissue, and decreased levels of all immunoglobulins. This is suspicious for Bruton (X-linked) agammaglobulinemia, which is associated with a defect in Bruton tyrosine kinase (BTK). Bruton agammaglobulinemia is an X-linked recessive disorder caused by a defect in Bruton tyrosine kinase. This results in defective maturation of B-cells, which impairs the production of all classes of immunoglobulins (Ig). Patients present after 6 months of age (when maternal antibodies wear off) with recurrent infections. Specifically, there is an increased susceptibility to encapsulated bacteria such as Streptococcus pneumoniae, Hemophilus influenzae, Streptoccocus pyogenes, and Pseudomonas. On examination, patients will have absent or scant lymphoid tissue. On labs, B-cell levels and all classes of Ig will be low. Treatment involves regular IVIG infusions and chronic antibiotics for prophylaxis. Incorrect Answers: Answer 1: Adenosine deaminase deficiency is associated with severe combined immunodeficiency disorder (SCID). Patients present with symptoms at less than 3 months of age with recurrent infections, failure to thrive, chronic diarrhea, severe seborrheic dermatitis, and absent lymphatic tissue. There would be no thymic shadow on chest radiograph. Answer 3: Microtubule dysfunction results in the failure of phagolysosome function. This is part of the pathogenesis of Chediak-Higashi syndrome. Patients will present with recurrent pyogenic infections, partial albinism, and pancytopenia. Answer 4: Mutation of a DNA repair enzyme describes the pathogenesis of ataxia-telangiectasia, a primary immunodeficiency of B- and T-cells. Labs will show decreased immunoglobulins. Patients present with cerebellar ataxia, telangiectasias, abnormal ocular movements, and recurrent sinopulmonary infections. Answer 5: Vitamin deficiencies can play a role in immune function. For instance, vitamin A and vitamin C deficiencies have been associated with suboptimal immune responses. These are not commonly deficient in a vegetarian diet and would not result in severely low levels of immunoglobulins. Bullet Summary: Bruton agammaglobulinemia presents in children with markedly low serum Ig with recurrent bacterial infections and is due to an X-linked defect in BTK.
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