WBR0479
Author | [[PageAuthor::Rim Halaby, M.D. [1]]] |
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Exam Type | ExamType::USMLE Step 1 |
Main Category | MainCategory::Immunology, MainCategory::Pathology |
Sub Category | SubCategory::Head and Neck |
Prompt | [[Prompt::A 6 month old boy is brought by his mother for recurrent infections. Following appropriate work-up, the patient's mother is told that her son is a candidate for bone marrow transplantation (BMT) to cure his condition. When asked, the physician informs that mother that her son has an inherited X-linked disease that causes a defective interleukin (IL)-2 receptor. Which of the following is the most likely finding during this patient's physical exam and work-up pre-op?]] |
Answer A | AnswerA::Absent pus formation |
Answer A Explanation | AnswerAExp::Absent pus formation is seen in patients with leukocyte adhesion deficiency (LAD). |
Answer B | AnswerB::Partial albinism |
Answer B Explanation | AnswerBExp::Partial albinism is seen in patients with Chediak-Higashi syndrome. |
Answer C | AnswerC::Retained primary teeth |
Answer C Explanation | AnswerCExp::Retained primary teeth is a common finding in patients with Job's syndrome (Hyper-IgE syndrome). |
Answer D | AnswerD::Absent palatine tonsils |
Answer D Explanation | AnswerDExp::Absent palatine tonsils is a finding in Bruton's agammaglobulinemia |
Answer E | AnswerE::Absent thymic shadow on chest xray |
Answer E Explanation | AnswerEExp::Absent thymic shadow, a finding due to thymic hypoplasia, is seen in patients with SCID. |
Right Answer | RightAnswer::E |
Explanation | [[Explanation::Severe combined immunodeficiency (SCID) is an immunological disease that is commonly inherited by an X-linked pattern. It is characterized by recurrent infections due to deficiency of both B-cells and T-cells. There are several causes of SCID; commonly IL-2 receptor defect and adenosine deaminase deficiency are the culprit.
Because of T-cell deficiency in SCID, patients will have thymic hypoplasia that is manifested as an absent thymic shadow on chest xray. |
Approved | Approved::Yes |
Keyword | WBRKeyword::thymic, WBRKeyword::hypoplasia, WBRKeyword::thymus, WBRKeyword::SCID, WBRKeyword::severe, WBRKeyword::combined, WBRKeyword::immunodeficiency, WBRKeyword::severe combined immunodeficiency, WBRKeyword::interleukin, WBRKeyword::receptor, WBRKeyword::2, WBRKeyword::adenosine, WBRKeyword::deaminase, WBRKeyword::deficiency, WBRKeyword::absent, WBRKeyword::thymic, WBRKeyword::shadow, WBRKeyword::xray |
Linked Question | Linked:: |
Order in Linked Questions | LinkedOrder:: |