Severe Combined Immunodeficiency Follow-up

  • Author: Elizabeth A Secord, MD; Chief Editor: Michael A Kaliner, MD   more...
 
Updated: May 5, 2009
 

Further Outpatient Care

  • Admit the patient to an immunology/hematology clinic for intravenous immunoglobulin (IVIG) therapy, IL-2 infusion, or polyethylene glycol–conjugated adenosine deaminase replacement (PEG-ADA) therapy, as necessary.
  • Frequently monitor the patient for acquired infections.
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Deterrence/Prevention

  • Genetic counseling is necessary. If the family wishes to have other children, suggest that they obtain prenatal testing (eg, chorionic villus sampling) if the genetic defect is known.
  • Screening tests do not prevent severe combined immunodeficiency (SCID) but can identify infants early prior to complications and can allow early treatment.
  • Some states now screen all neonates for the most common forms of SCID by identifying T-cell receptor excision circles (TRECs).
    • TRECs are a normal byproduct of T-cell receptor rearrangement.
    • In healthy neonates, TRECs are made in large numbers. In infants with SCID, they are barely detectable, making this a reasonable screening test for SCID.
    • This allows identification and bone marrow transplant (BMT) before the infants become ill and greatly increases their chance of survival.[19]
  • Microarray technology has also been proposed as a screening tool to detect the most common genetic defects leading to SCID.[20]
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Complications

  • Graft versus host disease (GVHD) may ensue if the blood products given prior to a bone marrow transplant (BMT) are not depleted of white blood cells by filtration or irradiation. Ensure that all blood products are also negative for cytomegalovirus to avoid systemic cytomegalovirus disease.
  • Ensure that the child does not receive any live virus vaccines until after BMT engraftment, especially polio or bacille Calmette-Guérin (BCG). Vaccinating children with SCID is not only futile, because they cannot make antibody, but is also dangerous, because they can develop disease from attenuated viruses and may even die after exposure to these vaccines.
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Prognosis

  • Without treatment, death is expected to occur within 2 years. Following a successful bone marrow or other transplant, the patient may survive to adulthood.
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Patient Education

  • Parents of children with any immune deficiency can obtain information from the Immune Deficiency Foundation.
  • Parents must not ignore a fever, rashes, or malaise in an affected child. These may indicate a serious infection.
  • Instruct parents to ensure that the child does not receive live virus vaccines, especially polio or BCG. Vaccinating children with SCID prior to treatment is not only futile, because they cannot make antibody, but is also very dangerous. The live attenuated virus can be deadly and can lead to disease in these immunocompromised hosts.
  • For excellent patient education resources, visit eMedicine's Yeast and Fungal Infections Center. Also, see eMedicine's patient education article Candidiasis (Yeast Infection).
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Contributor Information and Disclosures
Author

Elizabeth A Secord, MD  Clinical Associate Professor, Department of Pediatrics, Division of Pediatric Immunology, Wayne State University

Elizabeth A Secord, MD is a member of the following medical societies: American Academy of Allergy Asthma and Immunology, American Academy of Pediatrics, American College of Allergy, Asthma and Immunology, and American Medical Association

Disclosure: Nothing to disclose.

Coauthor(s)

Eyal Oren, MD  Consulting Staff, Institute for Asthma and Allergy

Eyal Oren, MD is a member of the following medical societies: American Academy of Allergy Asthma and Immunology and American College of Allergy, Asthma and Immunology

Disclosure: Nothing to disclose.

Specialty Editor Board

Charles H Kirkpatrick, MD  Professor of Medicine and Immunology, University of Colorado School of Medicine; Director of Adult Immune Deficiency Program, Department of Medicine, University of Colorado Health Sciences Center; Consulting Staff, Department of Medicine, National Jewish Medical and Research Center

Charles H Kirkpatrick, MD is a member of the following medical societies: American Academy of Allergy Asthma and Immunology, American Association of Immunologists, American College of Physicians, American Federation for Clinical Research, American Society for Clinical Investigation, and Clinical Immunology Society

Disclosure: Lev Pharmaceuticals Consulting fee Consulting

Francisco Talavera, PharmD, PhD  Senior Pharmacy Editor, eMedicine

Disclosure: Nothing to disclose.

Stephen C Dreskin, MD, PhD  Director of Allergy, Asthma, and Immunology Practice, Professor of Medicine, Departments of Internal Medicine and Immunology, University of Colorado Health Sciences Center

Stephen C Dreskin, MD, PhD is a member of the following medical societies: American Academy of Allergy Asthma and Immunology, American Association for the Advancement of Science, American Association of Immunologists, American Association of Neuropathologists, American Association of Ophthalmic Pathologists, American Association of Oral and Maxillofacial Surgeons, American College of Allergy, Asthma and Immunology, Clinical Immunology Society, and Joint Council of Allergy, Asthma and Immunology

Disclosure: Genentech Consulting fee Consulting

Timothy D Rice, MD  Associate Professor, Departments of Internal Medicine and Pediatrics and Adolescent Medicine, Saint Louis University School of Medicine

Timothy D Rice, MD is a member of the following medical societies: American Academy of Pediatrics and American College of Physicians

Disclosure: Nothing to disclose.

Chief Editor

Michael A Kaliner, MD  Clinical Professor of Medicine, George Washington University School of Medicine; Chief, Section of Allergy and Immunology, Washington Hospital Center; Medical Director, Institute for Asthma and Allergy

Michael A Kaliner, MD is a member of the following medical societies: American Academy of Allergy Asthma and Immunology, American Association of Immunologists, American College of Allergy, Asthma and Immunology, American Society for Clinical Investigation, American Thoracic Society, and Association of American Physicians

Disclosure: Abbott Consulting fee Consulting; Alcon Consulting fee Consulting; Glaxo Consulting fee Consulting; Greer Consulting fee Consulting; Sanofi Consulting fee Consulting; Schering Consulting fee Consulting; Teva Consulting; Meda Honoraria Speaking and teaching

References

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  4. Macchi P, Villa A, Giliani S, et al. Mutations of Jak-3 gene in patients with autosomal severe combined immune deficiency (SCID). Nature. Sep 7 1995;377(6544):65-8. [Medline].

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  10. Elder ME, Lin D, Clever J, et al. Human severe combined immunodeficiency due to a defect in ZAP-70, a T cell tyrosine kinase. Science. Jun 10 1994;264(5165):1596-9. [Medline].

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  17. Hitzig WH, Landolt R, Müller G, Bodmer P. Heterogeneity of phenotypic expression in a family with Swiss-type agammaglobulinemia: observations on the acquisition of agammaglobulinemia. J Pediatr. Jun 1971;78(6):968-80. [Medline].

  18. Chan K, Puck JM. Development of population-based newborn screening for severe combined immunodeficiency. J Allergy Clin Immunol. Feb 2005;115(2):391-8. [Medline].

  19. Lebet T, Chiles R, Hsu AP, Mansfield ES, Warrington JA, Puck JM. Mutations causing severe combined immunodeficiency: detection with a custom resequencing microarray. Genet Med. Aug 2008;10(8):575-85. [Medline].

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