A 34 year-old male comes to your office with fever, chills, headache, fatigue, myalgias, arthralgia, anorexia, nausea, sweats,and depression. He returned from a hunting trip after spending two weeks in St.Paul, Minnesota. His past medication history is significant for splenectomy after a motor vehicle accident four years ago. Physical examination is significant for tenderness in the right upper quadrant. Laboratory tests showed anemia, thrombocytopenia, elevated transaminases and  intraerythrocytic ring-shaped parasites in tetrads on Giemsa-stained blood smears and later confirmed by a PCR assay which showed the DNA of the organism.     You suspect babesiosis in this patient. Of the following which organism carries Babesia microbial, the organism responsible for Babesiosis? 

A 24 year-old male came to the emergency room complaining of fever, headache, nausea, vomiting, blurred vision, photophobia, lethargy, altered mental status and stiff neck. His past medical history is significant for HIV positivity and asthma. Physical examination revealed an irritable and restless patient with fever, altered mental status, stiff neck, nystagmus, papilledema, and cranial nerve deficits. Laboratory tests revealed elevated WBC with lymphocyte predominance, HIV-1 viral load of 302,551 RNA copies/mL and a CD4+ counts <100 cells/mm3. CSF culture came positive for cryptococcus antigen. Patient was diagnosed with cryptococcal meningitis and was started on amphotericin B and fluconazole. He showed good response to the treatment. His symptoms improved rapidly. Realizing that his life-threatening cryptococcal infection was due to his AIDS , he wanted to get started on highly reactive antiretroviral therapy (HAART) . Upon his discharge from the hospital, he was started on HAART. Two weeks passed uneventfully. Then, one evening, he returned to the emergency room complaining of fever, lymphadenitis, myalgia, cough, and chest pain. Physical examination is remarkable for lymphadenopathy, mucocutaneous ulcers in the mouth, bilateral rales on chest auscultation and hepatosplenomegaly. Vital signs: Temp: 100.6F, Oxygen Sat = 94, BP 100/70; Pulse = 97/min; RR = 22/min Some of the laboratory results are as follows: CD4 count is 800 cells/mm3 HIV-1 viral load of 4800 RNA copies/mL CSF positive for cryptococcus antigen Urine assay is positive for histoplasmosis Chest X ray showed apical infiltrates and nodules When the patient was told about his test results, he said he never heard about histoplasmosis and never had a sickness from it. Of the following, which is a main risk factor for developing Immune Reconstitution Syndrome in a HIV patient receiving highly active antiretroviral therapy (HAART)?  

A 10 year-old boy is brought to your office because his mother is concerned about his frequent bouts of sinusitis, pneumonia and skin infections. He has beautiful blue eyes but is unusually sensitive to bright light. Mother reports that there are some relatives with blue eyes and albinism in her extended family. Physical examination is significant for silvery hair,  albinism, hepatosplenomegaly, and ecchymosis. Laboratory tests show neutropenia, thrombocytopenia, elevated bleeding time and hypergammaglobulinemia. Pathology report says there are peroxidase-positive giant granules in the neutrophils  on peripheral smear. You wonder whether this boy has an autosomal recessive disease. Of the following, which disease is autosomal recessive? 

A 4 month old male is brought to your office by his parents for a wellness check. They are concerned about his repeated bouts of eczema and recurrent infections. He has a complicated medical history significant for bloody diarrhea and hard to control epistaxis during the second month of his life. Your physical examination found a feeble baby with eczema, dry blood in the perinatal region and splenomegaly. You ordered some routine labs for this patient. Later that evening a technician from the laboratory called you to inform you of some ‘red flag’ lab results, which are a platelet count of  60000/ platelets/µL with reduced sized platelets in clumps. Concerned about the possibility of Wiskott Aldrich syndrome (WAS), you ordered a genetic test and it revealed a genetic defect on the short arm of the X-chromosome. In WAS patients, what is the most common finding at the time of diagnosis? 

A 4 month old male is brought to your office by his parents for a wellness check. They are concerned about his repeated bouts of eczema and recurrent infections. He has a complicated medical history significant for bloody diarrhea and hard to control epistaxis during the second month of his life. Your physical examination found a feeble baby with eczema, dry blood in the perinatal region and splenomegaly. You ordered some routine labs for this patient. Later that evening a technician from the laboratory called you to inform you of some ‘red flag’ lab results, which are a platelet count of  60000/ platelets/µL with reduced sized platelets in clumps. Concerned about the possibility of Wiskott Aldrich syndrome (WAS), you ordered a genetic test and it revealed a genetic defect on the short arm of the X-chromosome. What is the most frequent cause of death in WAS? 

A 10 month-old male infant is brought to your clinic for a sick visit. The patient’s mother states she was having a bad morning which started when she found her baby having a seizure in his bed. On physical examination, you immediately noticed that the boy has a small mandible, cleft palate, low-set posteriorly rotated ears with notched pinnae and an abnormal increase in the distance between the orbits. When you tapped on the facial nerve, you noticed contraction of facial muscles. A complete cardiopulmonary evaluation revealed a loud, harsh holosystolic murmur in the left third and fourth interspaces along the sternum. CXR showed absent thymic shadow. Suspecting a genetic disorder, you consulted a genetics specialist, who detected a chromosome 22q11.2 deletion in fluorescence studies. What is the most likely diagnosis?