Primary immunodeficienciesDownloads

A 6-year-old child presents for evaluation of a medical condition associated with recurrent infections. After reviewing all of the medical history, gene therapy is offered to treat a deficiency in adenosine deaminase (ADA). ADA deficiency is the most common autosomal recessive mutation in which of the following diseases?

A 7-month-old boy is brought in to his pediatrician’s office due to concern for recurrent infections. The parents state that over the last 3-4 months, the boy has had multiple viral respiratory infections, along with a fungal pneumonia requiring hospitalization. Currently he is without complaints; however, the parents are concerned that he continues to have loose stools and is falling off of his growth curve. Newborn screening is not recorded in the patient’s chart. On exam, the patient’s temperature is 98.4°F (36.9°C), blood pressure is 108/68 mmHg, pulse is 90/min, and respirations are 12/min. The patient is engaging appropriately and is able to grasp, sit, and is beginning to crawl. However, the patient is at the 20th percentile for length and weight, when he was previously at the 50th percentile at 3 months of age. Further screening suggests that the patient has an autosomal recessive immunodeficiency associated with absent T-cells. Which of the following is also associated with this disease?