eMedicine Specialties > Allergy and Immunology > Immunodeficiencies

Severe Combined Immunodeficiency: Follow-up

Author: Elizabeth A Secord, MD, Clinical Associate Professor, Department of Pediatrics, Division of Pediatric Immunology, Wayne State University
Coauthor(s): Eyal Oren, MD, Consulting Staff, Institute for Asthma and Allergy
Contributor Information and Disclosures

Updated: May 5, 2009

Follow-up

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.

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

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.

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.

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).

Miscellaneous

Medicolegal Pitfalls

  • Failure to make the diagnosis because the child is not frankly lymphopenic may present a problem, particularly in patients with Omenn syndrome, bare lymphocyte syndrome, and interleukin (IL)-2 deficiency. Obtaining lymphocyte markers and test results of antibody and lymphocyte proliferation can help physicians to avoid this pitfall.
  • Ensure that the child does not receive any live virus vaccines, especially polio or bacille Calmette-Gu é rin (BCG). Vaccinating children with severe combined immunodeficiency (SCID) is futile and may be very dangerous because these children can develop disease from attenuated viruses, and they may even die after exposure to these vaccines.
 


More on Severe Combined Immunodeficiency

Overview: Severe Combined Immunodeficiency
Differential Diagnoses & Workup: Severe Combined Immunodeficiency
Treatment & Medication: Severe Combined Immunodeficiency
Follow-up: Severe Combined Immunodeficiency
References

References

  1. Fischer A. Severe combined immunodeficiencies. Immunodefic Rev. 1992;3(2):83-100. [Medline].

  2. Uribe L, Weinberg KI. X-linked SCID and other defects of cytokine pathways. Semin Hematol. Oct 1998;35(4):299-309. [Medline].

  3. Hong R. Disorders of the T cell system. In: Stiehm ER, ed. Immunologic Disorders in Infants and Children. 4th ed. Philadelphia, Pa: WB Saunders; 1996:339-408.

  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].

  5. Candotti F, O'Shea JJ, Villa A. Severe combined immune deficiencies due to defects of the common gamma chain-JAK3 signaling pathway. Springer Semin Immunopathol. 1998;19(4):401-15. [Medline].

  6. Hirschhorn R, Vawter GF, Kirkpatrick JA Jr, Rosen FS. Adenosine deaminase deficiency: frequency and comparative pathology in autosomally recessive severe combined immunodeficiency. Clin Immunol Immunopathol. Sep 1979;14(1):107-20. [Medline].

  7. Reith W, Mach B. The bare lymphocyte syndrome and the regulation of MHC expression. Annu Rev Immunol. 2001;19:331-73. [Medline].

  8. DeSandro A, Nagarajan UM, Boss JM. The bare lymphocyte syndrome: molecular clues to the transcriptional regulation of major histocompatibility complex class II genes. Am J Hum Genet. Aug 1999;65(2):279-86. [Medline].

  9. Mach B, Steimle V, Reith W. MHC class II-deficient combined immunodeficiency: a disease of gene regulation. Immunol Rev. Apr 1994;138:207-21. [Medline].

  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].

  11. Villa A, Santagata S, Bozzi F, Imberti L, Notarangelo LD. Omenn syndrome: a disorder of Rag1 and Rag2 genes. J Clin Immunol. Mar 1999;19(2):87-97. [Medline].

  12. O'Driscoll M, Cerosaletti KM, Girard PM, et al. DNA ligase IV mutations identified in patients exhibiting developmental delay and immunodeficiency. Mol Cell. Dec 2001;8(6):1175-85. [Medline].

  13. Kung C, Pingel JT, Heikinheimo M, et al. Mutations in the tyrosine phosphatase CD45 gene in a child with severe combined immunodeficiency disease. Nat Med. Mar 2000;6(3):343-5. [Medline].

  14. Rieux-Laucat F, Hivroz C, Lim A, et al. Inherited and somatic CD3zeta mutations in a patient with T-cell deficiency. N Engl J Med. May 4 2006;354(18):1913-21. [Medline].

  15. Dadi HK, Simon AJ, Roifman CM. Effect of CD3delta deficiency on maturation of alpha/beta and gamma/delta T-cell lineages in severe combined immunodeficiency. N Engl J Med. Nov 6 2003;349(19):1821-8. [Medline].

  16. Ege M, Ma Y, Manfras B, Kalwak K, Lu H, Lieber MR. Omenn syndrome due to ARTEMIS mutations. Blood. Jun 1 2005;105(11):4179-86. [Medline].

  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].

  20. Aiuti A, Cattaneo F, Galimberti S, et al. Gene therapy for immunodeficiency due to adenosine deaminase deficiency. N Engl J Med. Jan 29 2009;360(5):447-58. [Medline].

  21. Booth C, Hershfield M, Notarangelo L, et al. Management options for adenosine deaminase deficiency; proceedings of the EBMT satellite workshop (Hamburg, March 2006). Clin Immunol. May 2007;123(2):139-47. [Medline].

Further Reading

Keywords

SCID, severe combined immunodeficiency, T-cell dysfunction, T cell dysfunction, B-cell dysfunction, B cell dysfunction, graft versus host disease, GVHD, graft-versus-host disease, graft-vs-host disease, severe infection, Swiss-type agammaglobulinemia, Janus-associated kinase 3 deficiency, JAK3 deficiency, adenosine deaminase deficiency, ADA deficiency, purine nucleoside phosphorylase deficiency, PNP deficiency, bare lymphocyte syndrome, interleukin-2 deficiency, IL-2 deficiency, ZAP-70 protein tyrosine kinase deficiency, PTK deficiency, reticular dysgenesis, Omenn syndrome, Pneumocystis carinii/jiroveci pneumonia, PCP, systemic candidiasis, generalized herpetic infections, ARTEMIS, Artemis, RAG1 deficiency, RAG2 deficiency

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.

Medical Editor

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

Pharmacy Editor

Francisco Talavera, PharmD, PhD, Senior Pharmacy Editor, eMedicine
Disclosure: Nothing to disclose.

Managing Editor

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

CME Editor

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

 
 
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