A 40-day-old child presents to a physician for the first time for a well-child visit. The mother is a 22-year-old college student who opted for a home birth. Upon examination, the child weighs 4.0 kg (8.8 lbs) and has intact reflexes. The umbilical cord is still attached and looks erythematous and indurated. A complete blood cell count reveals leukocytosis. Immunoglobulin levels are normal. A flow cytometry analysis is performed. Which of the following markers will most likely be deficient in this child?
ACD1a
BCD56
CCD3
DCD18
ECD21
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?
AWiskott-Aldrich Syndrome
BBruton's Agammaglobulinemia
CSevere Combined Immunodeficiency
DDiGeorge Syndrome
EHyper-IgM Syndrome
A 24-year-old woman comes to the clinic complaining of headache and sinus drainage for the past 13 days. She reports cold-like symptoms 2 weeks ago that progressively got worse. The patient endorses subjective fever, congestion, sinus headache, cough, and chills. She claims that this is her 5th episode within the past year and is concerned if “there’s something else going on.” Her medical history is significant for asthma that is adequately controlled with her albuterol inhaler. Her laboratory findings are shown below: Serum: Hemoglobin: 16.2 g/dL Hematocrit: 39 % Leukocyte count: 7,890/mm^3 with normal differential Platelet count: 200,000/mm^3 IgA: 54 mg/dL (Normal: 76-390 mg/dL) IgE: 0 IU/mL (Normal: 0-380 IU/mL) IgG: 470 mg/dL (Normal: 650-1500 mg/dL) IgM: 29 mg/dL (Normal: 40-345 mg/dL) What is the most likely diagnosis?
AWiskott-Aldrich syndrome
BSelective IgA deficiency
CCommon variable immunodeficiency
DAtaxia-telangiectasia
EX-linked agammaglobinemia
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