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No treatment needed; patient's condition will resolve spontaneously
3%
1/29
Hematopoetic cell transplantation
62%
18/29
Intravenous piperacillin-tazobactam
Immune globulin administration
21%
6/29
Highly active antiretroviral therapy
Select Answer to see Preferred Response
This baby's clinical picture--recurrent bacterial, viral, and fungal infections, failure to thrive, chronic diarrhea, and absent lymphoid tissue--are extremely concerning for severe combined immunodeficiency (SCID). SCID is a primary immunodeficiency that can be caused by a number of genetic defects. The disease is transmitted in a X-linked fashion in approximately 50% of cases. The clinical picture of SCID is due to the absence of both B and T cells, leading to absent humoral and cell-mediated immunity. In addition to the signs discussed above, infants with SCID typically are athymic, as shown in Figure A. Both hematopoetic cell transplantation and, for certain forms of SCID, gene therapy, may be curative. Reust discusses the evaluation of primary immunodeficiency disease in children. She notes that a family history of primary immunodeficiency is the strongest diagnostic predictor for this condition. She also notes that initial laboratory screening in patients with suspected primary immunodeficiency should include a complete blood count with differential, measurement of serum immunoglobulin, and measurement of complement levels. Gaspar et al. present a case series of 10 children who underwent gene therapy with autologous hematopoetic cells transduced with a gammaretroviral vector. All patients were alive after a median follow-up period of 6.7 years, and had functional cell-mediated immunity with partial recovery of humoral immunity. One concerning complication was acute T cell ALL due to insertional mutagenesis. Illustration A: Chest x-ray of an infant with SCID and no thymus. Incorrect Answer: Answer 1: SCID is invariably fatal without treatment. Answer 3: This patient's infections are caused by an underlying immunodeficiency, so intravenous antibiotic therapy will not provide definitive treatment. Answer 4: Immune globulin administration is indicated for less severe immunodeficiencies, such as common variable immunodeficiency. Answer 5: Highly active antiretroviral therapy (HAART) is indicated for treatment of pediatric HIV; this patient's presentation is more consistent with SCID.
4.3
(3)
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