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. What is the definitive test to diagnose immune reconstitution syndrome in this patient?

A 4 year-old male was brought to the emergency room with severe bleeding from nose. He had a complicated medical history significant for delayed umbilical stump detachment,  intracerebral hemorrhage at birth, recurrent infections, misshapen brittle bones with several fractures in the past and poor wound healing with no pus formation. Blood analysis revealed leukocytosis and an autosomal recessive condition with  mutations of FERMT3 gene, which encodes for Kindlin-3 protein. Bleeding stopped after the administration of red blood cell transfusions and recombinant Factor VIIa. What is the most likely diagnosis in this patient? 

A dad brought his 3 year-old male son for a quick evaluation of toothache. His son is complaining of rapidly worsening pain around his teeth and gums for the last 3 days. The boy’s past medical history is significant for recurrent bacterial infections, impaired physical and mental growth. In the physical examination, you noticed a child who looks small for his age with unusual facial features. Laboratory workup showed marked leukocytosis, defective expression of selectin ligands, a rare Bombay (hh) blood type at the ABO locus and the absence  of sialyl Lewis X expression (CD15a). He responded well to antibiotics and oral fucose supplements. Which of the following is the most likely diagnosis in this patient? 

A mother brought her 6 month-old male infant to your office for the establishment of care. She reports that he had four bouts of pneumonia and ‘countless’ skin infections in the last six months of his life. His past medical history is significant for delayed separation of his umbilicus after birth. You did not find any abnormalities in your physical examination. Her report of ‘countless’ skin infections prompted you to investigate further.You ordered some routine labs which is significant for a WBC count 30000/microliter. You suspect leukocyte adhesion deficiency in this baby. Of the following, which is the pathological hallmark of leukocyte adhesion deficiency?

A mother brought her 6 month-old male infant to your office for the establishment of care. She reports that he had four bouts of pneumonia and ‘countless’ skin infections in the last six months of his life. His past medical history is significant for delayed separation of his umbilicus after birth. You did not find any abnormalities in your physical examination. Her report of ‘countless’ skin infections prompted you to investigate further.You ordered some routine labs which is significant for a  WBC count 30000/microliter. Later, in consultation with a hematologist, you ordered a flow cytometry analysis, which showed absence of functional β2-integrins (CD11/CD18). What is the most likely diagnosis in this patient? 

A 3 year-old male is brought to your office for the evaluation of recurrent infections and persistent hunger, and not gaining weight. His mother reports that his medical history is significant for recurrent skin abscesses with staphylococcus aureus. Recently he started to complain about abdominal pain that starts one to two hours after a meal. When he vomits, the ingested food is ejected forcefully falling several feet away. Physical examination findings include several abscesses over both upper extremities, tenderness over the epigastric area.      You ordered an ultrasound of his abdomen which confirmed what you suspected, pyloric stenosis. Then you thought, “but why is this boy getting recurrent skin abscesses?” Incrementally, you ordered some laboratory tests to investigate this boy’s condition. Results came as follows CBC: anemia, leucocytosis, and elevated ESR  Skin abscess culture: Positive for Staphylococcus aureus, Burkholderia cepacia and Serratia marcescens  Dihydrorhodamine (DHR) test: Positive  Nitroblue tetrazolium test: Positive  You suspect chronic granulomatous disease in this patient. In most patients, this disorder is inherited as 

A 3 year-old male is brought to your office for the evaluation of recurrent infections and persistent hunger, and not gaining weight. His mother reports that his medical history is significant for recurrent skin abscesses with staphylococcus aureus. Recently he started to complain about abdominal pain that starts one to two hours after a meal. When he vomits, the ingested food is ejected forcefully falling several feet away. Physical examination findings include several abscesses over both upper extremities, tenderness over the epigastric area.      You ordered an ultrasound of his abdomen which confirmed what you suspected, pyloric stenosis. Then you thought, “but why is this boy getting recurrent skin abscesses?” Incrementally, you ordered some laboratory tests to investigate this boy’s condition. Results came as follows CBC: anemia, leucocytosis, and elevated ESR  Skin abscess culture: Positive for Staphylococcus aureus, Burkholderia cepacia and Serratia marcescens  Dihydrorhodamine (DHR) test: Positive  Nitroblue tetrazolium test: Positive  Which of the following best describes the pathogenesis of the disease affecting this patient?

A 3 year-old male is brought to your office for the evaluation of recurrent infections and persistent hunger, and not gaining weight. His mother reports that his medical history is significant for recurrent skin abscesses with staphylococcus aureus. Recently he started to complain about abdominal pain that starts one to two hours after a meal. When he vomits, the ingested food is ejected forcefully falling several feet away. Physical examination findings include several abscesses over both upper extremities, tenderness over the epigastric area.      You ordered an ultrasound of his abdomen which confirmed what you suspected, pyloric stenosis. Then you thought, “but why is this boy getting recurrent skin abscesses?” Incrementally, you ordered some laboratory tests to investigate this boy’s condition. Results came as follows CBC: anemia, leucocytosis, and elevated ESR  Skin abscess culture: Positive for Staphylococcus aureus, Burkholderia cepacia and Serratia marcescens  Dihydrorhodamine (DHR) test: Positive  Nitroblue tetrazolium test: Positive  You suspected a granulomatous disease in this boy. Which of the following is a granulomatous disease? 

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. What is the most likely diagnosis in this patient? 

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 suspected Chédiak-Higashi syndrome in this boy. Of the following, which leukocyte morphology is characteristic of Chediak-Higashi syndrome?