A 13-month-old boy is referred to an immunologist with recurrent otitis media, bacterial sinus infections, and pneumonia, which began several months earlier. He is healthy now, but the recurrent nature of these infections are troubling to his parents and they are hoping to find a definitive cause. The boy was born at 39 weeks gestation via spontaneous vaginal delivery. He is up to date on all vaccines and is meeting all developmental milestones. The patient has five older siblings, but none of them had similar recurrent illnesses. Clinical pathology results suggest very low levels of serum immunoglobulin. As you discuss options for diagnosis with the patient’s family, which of the following tests should be performed next?
ACSF gram staining
BUrine protein screening
CStool cultures
DFlow cytometry
EGenetic analysis
A 3-month-old boy presents to his pediatrician with persistent diarrhea, oral candidiasis, and signs and symptoms of respiratory syncytial virus (RSV) pneumonia. He is very lean with weight in the 10th percentile. His blood pressure is 105/64 mm Hg and heart rate is 84/min. He is being evaluated for an immunodeficiency. Laboratory results for HIV are negative by polymerase chain reaction (PCR). Which of the following is the most likely cause of this child’s presentation?
AGrossly reduced levels of B cells
BAn X-linked inheritance of HLA genes
CSelective IgA deficiency
DDefective T cell function
EDefective isotype switching
A young infant is brought to an immunologist because of recurrent infections, which have not resolved despite appropriate medical treatment. On reviewing her medical history, the immunologist notes that the child has had frequent disseminated mycobacterial infections. He suspects a possible immunodeficiency. What is the most likely cause of this patient's immunodeficiency?
AATM gene defect
BLFA-1 integrin defect
CB-cell maturation defect
DInterferon-gamma signaling defect
EBTK gene defect
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