Which clinical history findings are characteristic of severe combined immunodeficiency (SCID)?

Updated: Aug 11, 2020
  • Author: Francisco J Hernandez-Ilizaliturri, MD; Chief Editor: Emmanuel C Besa, MD  more...
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Answer

The clinical hallmarks of severe combined immunodeficiency (SCID) are repetitive and frequent bacterial, viral, and fungal infections that persist despite standard medical treatment. These result from the profound degree of immune compromise in SCID.

Patients with primary T-cell deficiency SCID begin having infections soon after birth (ie, age 3-4 mo) compared with those that have pure B-cell disorders, who do not have an increased incidence of bacterial infections until 7-9 months after birth, when placental antibodies fall to undetectable levels.

Clinicians should focus attention on the family history, site of infection, type of microorganisms, and any adverse reactions to transfusion of blood products, which may provide clues to the significance and type of immune deficiency. It is also important to inquire about consanguineous relationships because consanguinity increases the risk of immune disorders that have autosomal recessive inheritance patterns (eg, some forms of SCID or chronic granulomatous disease [CGD]). In addition, a careful family history of risk factors for human immunodeficiency virus (HIV) should be obtained to rule out secondary forms of immunodeficiency.

Upper and lower respiratory tract infections, skin infections, meningitis, bacteremias, and abscesses are common in persons with B-cell disorders. Pneumonia with Pneumocystis jirovecii or cytomegalovirus (CMV), disseminated bacillus Calmette-Guerin (BCG) infection, [11] or atypical mycobacterial infection and recurrent or persistent skin candidiasis are suggestive of T-cell disorders or SCID. Diarrhea with failure to thrive in children with SCID is usually related to infections with viruses such as rotaviruses and adenoviruses. Although antibody deficiency is associated with recurrent encapsulated bacteria infections, T-cell disorders or SCID are associated with opportunistic infections with fungi, viruses, or intracellular bacteria.

Reactions to blood products or vaccines should raise the suggestion of an underlying immunodeficiency, particularly IgA deficiency. Transfusion with blood products can result in significant graft versus host disease (GVHD) in SCID patients.

After a detailed inquiry, a SCID disorder should be suspected if the patient falls into one of the following groups: [12, 13, 14, 15]

  • Prenatal diagnosis
  • Neonate with a family history of a known immunologic disorder
  • Failure to thrive
  • Recurrent upper and lower respiratory tract infections that do not respond to appropriate antibiotics
  • Recurrent skin infections and delayed wound healing

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