Case history
Case history #1
A 2-week old male infant has been referred because of an abnormal newborn screening for SCID. On examination, there is no lymphadenopathy or tonsillar tissue. Laboratory evaluations reveal lymphopenia (absolute lymphocyte count [ALC] of 900 cells/mm³). Lymphocyte phenotyping by flow cytometry reveals markedly reduced T cells and natural killer (NK) cells with relatively normal B cells (i.e., T-B+NK-).
Case history #2
A 6-month-old boy is referred to an immunology centre for evaluation of recurrent viral pneumonias. Prior studies have documented parainfluenza type 3 and adenovirus by polymerase chain reaction of respiratory washings. Laboratory evaluations reveal lymphopenia (ALC of 1200 cells/mm³). A chest x-ray reveals an absent thymic shadow. Lymphocyte phenotyping by flow cytometry reveals severely reduced T cells, B cells, and NK cells (i.e., T-B-NK-). DeoxyATP levels in erythrocytes are markedly elevated, consistent with the diagnosis of adenosine deaminase deficiency.[Figure caption and citation for the preceding image starts]: Chest x-ray of an infant depicting an absent thymic shadow; infants with SCID may be athymic at time of presentationChildren's Hospital of Wisconsin, Department of Radiology; used with permission [Citation ends].
[Figure caption and citation for the preceding image starts]: Chest x-ray of an infant depicting a normal thymic shadowChildren's Hospital of Wisconsin, Department of Radiology; used with permission [Citation ends].
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