Severe Combined Immunodeficiency (SCID) Follow-up

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

Further Outpatient Care

Regularly monitor the following in patients with severe combined immunodeficiency:

  • Growth and development
  • Chest radiographs
  • Pulmonary function
  • Immunoglobulin trough levels
  • Liver function

Imunoglobulin trough levels of 400 mg/dL or higher are considered satisfactory. Occasionally, levels greater than 500 mg/dL are required to clear certain viral infections, such as enterovirus meningoencephalitis. Trough levels may need to be titrated in individual patients to determine the level that is needed to prevent recurrent infection.

If abnormalities are identified on liver function tests, imaging studies of the liver and biliary tree are necessary to exclude malignancies or sclerosing cholangitis (the latter is observed in patients with X-linked immunodeficiency with hyper IgM syndrome [XHM]).

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Inpatient & Outpatient Medications

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  • Once initiated, IVIG therapy can be self-administered by the patient.

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Transfer

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  • Specialists in the diagnosis and treatment of these patients should be consulted for their initial evaluation and treatment.

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Deterrence/Prevention

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  • The liberal use of antibiotics helps to decrease the frequency of infections in these patients. Some experts use a rotating regimen of antibiotics on a monthly basis.

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Complications

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  • Bronchiectasis and cor pulmonale complicate chronic/recurrent lower respiratory tract infections.

  • Hearing loss due to chronic otitis media or meningoencephalitis may affect as many as one third of patients with XLA.

  • The risk of GVHD is high in patients with SCID because of their inability to reject foreign antigens.

  • EBV-associated smooth muscle tumors may occur in patients who are partially reconstituted after bone marrow transplantation for SCID and who may not require surgery or chemotherapy. [29]

  • Central nervous system viral infection is one of the most potentially devastating complications of immunodeficiency, but this is a rare presentation in patients with SCID.

  • Complications related to IVIG therapy include the following:

    • Increased serum viscosity and thromboembolic events, increased risk of migraine attacks, aseptic meningitis (10%), urticaria, pruritus, or petechiae (2-5 d postinfusion to 30 d postinfusion) can occur.

    • The most common adverse reactions are nonanaphylactic in nature and are characterized by back and abdominal pain, nausea, vomiting, chills, fever, and myalgias. Discontinue the infusion until the symptoms subside; then restart at a slower rate.

    • True anaphylactic reactions are rare and occur seconds to hours after the infusion is started. Typical symptoms consist of flushing, facial swelling, dyspnea, and hypotension. Stop the infusion, and administer epinephrine, steroids, and antihistamines together.

    • The risk of renal tubular necrosis is increased in elderly patients and in patients with diabetes, volume depletion, and preexisting kidney disease.

    • Transmission of hepatitis C virus (HCV) is much less common now than in the past. Most patients who are HCV RNA–positive contracted their infection in the 1980s when serologic testing of blood donors for this infection was not available. Chronic liver disease in these patients is characterized by a severe clinical course, particularly in those with CVID.

      • Hepatitis B virus (HBV) and hepatitis G virus (HGV) seem to play minor roles in the pathogenesis of chronic liver disease in these patients.

      • A milder form of chronic liver disease with negative serology for HCV, HBV, and HGV infections has been described in these patients. This form occurs, on average, 36 months after the beginning of IVIG therapy, and it is thought to be related to immune phenomena or to a viral infection not yet described.

      • A few non-HCV, non-HBV, and non-HGV patients have a particularly severe course, and granulomatous disease of the liver has been identified in most of them.

      • Lymphoma, especially Burkitt lymphoma, has been reported in patients with ADA deficiency, including those who received prolonged PEG-ADA replacement therapy.

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Prognosis

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  • Without treatment, most of the patients with combined B-cell and T-cell disorders die within the first 6 months.

  • Patients who are well nourished, uninfected, and younger than 6 months before transplantation have the best outcomes.

  • Patients with SCID barely survive without stem cell reconstitution. However, gene therapy is an alternative for those cases in which donors are unavailable.

  • Patients with less severe mutations in the ADA gene have survived into adulthood.

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Patient Education

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  • Inform patients and their families about the risk of overwhelming infection and the need for immediate intervention.

  • Encourage the use of antibiotics in case symptoms of infection arise, along with immediate referral to the nearest medical facility for evaluation.

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