Dermatologic Manifestations of Severe Combined Immunodeficiency Treatment & Management

Author: Henry K Wong, MD, PhD; Chief Editor: Dirk M Elston, MD more...

Updated: Jul 14, 2010

What would you like to print?

Medical Care
Consultations
Show All

Medical Care

Treatment of the acute infectious process is critical, but the only cure for severe combined immunodeficiency (SCID) is bone marrow transplantation.^{[8, 9]}HLA-identical donor bone marrow transplantation is optimal, followed by HLA-matched unrelated donor transplantation. HLA-mismatched related donor transplantation is an alternative and can often be successful if an HLA-matched donor cannot be identified.

This approach is successful if the disease is diagnosed within their first 3 months of life. Early transplantation before 3.5 months is associated with better overall survival.^[10]
Neither pretransplantation chemoablation nor GVHD prophylaxis is required for successful engraftment with an identical donor; however, pretransplantation myeloablation is necessary in nonidentical HLA-matched donors.
All blood products must receive 25-Gy irradiation to prevent fatal GVHD. Advances in gene therapy should lead to the correction of single genetic defects in lymphocytes.
No live vaccines, such as the BCG vaccine, should be administered to patients with SCID prior to bone marrow transplantation.
Several gene therapy clinical trials based on gene transfer to hematopoietic cells have been performed, but these approaches still require further development before becoming routine protocols.^{[11, 12, 13]}

Consultation with an internal medicine specialist and an infectious disease specialist is important in the management and prevention of infection.
A hematologist and/or an oncologist should be consulted for bone marrow transplantation.

Proceed to Medication

Contributor Information and Disclosures

Author

Henry K Wong, MD, PhD Associate Professor of Dermatology, Ohio State University College of Medicine

Henry K Wong, MD, PhD is a member of the following medical societies: American Academy of Dermatology, American Association of Immunologists, International Society for Cutaneous Lymphomas, and Society for Investigative Dermatology

Disclosure: Amgen Consulting fee Speaking and teaching; Centocor Honoraria Speaking and teaching; Celgene Grant/research funds None; Abbott Labs Grant/research funds Independent contractor

Specialty Editor Board

James Fulton Jr, MD, PhD Center for Cosmetic Dermatology; Consultant, Vivant Pharmaceuticals, LLC

James Fulton Jr, MD, PhD is a member of the following medical societies: American Academy of Cosmetic Surgery, American Academy of Dermatology, American Society for Laser Medicine and Surgery, Dermatology Foundation, International Society of Cosmetic and Laser Surgeons, and Skin Cancer Foundation

Disclosure: Vivant Pharmaceuticals Grant/research funds Consulting

David F Butler, MD Professor of Dermatology, Texas A&M University College of Medicine; Chair, Department of Dermatology, Director, Dermatology Residency Training Program, Scott and White Clinic, Northside Clinic

David F Butler, MD is a member of the following medical societies: Alpha Omega Alpha, American Academy of Dermatology, American Medical Association, American Society for Dermatologic Surgery, American Society for MOHS Surgery, Association of Military Dermatologists, and Phi Beta Kappa

Disclosure: Nothing to disclose.

Jeffrey P Callen, MD Professor of Medicine (Dermatology), Chief, Division of Dermatology, University of Louisville School of Medicine

Jeffrey P Callen, MD is a member of the following medical societies: Alpha Omega Alpha, American Academy of Dermatology, American College of Physicians, and American College of Rheumatology

Disclosure: Amgen Honoraria Consulting; Abbott Honoraria Consulting; Electrical Optical Sciences Consulting fee Consulting; Celgene Honoraria Safety Monitoring Committee; GSK - Glaxo Smith Kline Consulting fee Consulting; TenXBioPharma Consulting fee Safety Monitoring Committee

Catherine M Quirk, MD Clinical Assistant Professor, Department of Dermatology, University of Pennsylvania

Catherine M Quirk, MD is a member of the following medical societies: Alpha Omega Alpha and American Academy of Dermatology

Disclosure: Nothing to disclose.

Chief Editor

Dirk M Elston, MD Director, Ackerman Academy of Dermatopathology, New York

Dirk M Elston, MD is a member of the following medical societies: American Academy of Dermatology

Disclosure: Nothing to disclose.

References

Notarangelo LD. Primary immunodeficiencies. J Allergy Clin Immunol. Feb 2010;125(2 Suppl 2):S182-94. [Medline].
Geha RS, Notarangelo LD, Casanova JL, et al. Primary immunodeficiency diseases: an update from the International Union of Immunological Societies Primary Immunodeficiency Diseases Classification Committee. J Allergy Clin Immunol. Oct 2007;120(4):776-94. [Medline].
Rosen FS. Severe combined immunodeficiency: a pediatric emergency. J Pediatr. Mar 1997;130(3):345-6. [Medline].
Kovanen PE, Leonard WJ. Cytokines and immunodeficiency diseases: critical roles of the gamma(c)-dependent cytokines interleukins 2, 4, 7, 9, 15, and 21, and their signaling pathways. Immunol Rev. Dec 2004;202:67-83. [Medline].
Roifman CM, Zhang J, Chitayat D, Sharfe N. A partial deficiency of interleukin-7R alpha is sufficient to abrogate T-cell development and cause severe combined immunodeficiency. Blood. Oct 15 2000;96(8):2803-7. [Medline].
Puck JM,. Population-based newborn screening for severe combined immunodeficiency: steps toward implementation. J Allergy Clin Immunol. Oct 2007;120(4):760-8. [Medline].
Baker MW, Grossman WJ, Laessig RH, et al. Development of a routine newborn screening protocol for severe combined immunodeficiency. J Allergy Clin Immunol. Sep 2009;124(3):522-7. [Medline].
Grunebaum E, Mazzolari E, Porta F, et al. Bone marrow transplantation for severe combined immune deficiency. JAMA. Feb 1 2006;295(5):508-18. [Medline].
Tsuji Y, Imai K, Kajiwara M, et al. Hematopoietic stem cell transplantation for 30 patients with primary immunodeficiency diseases: 20 years experience of a single team. Bone Marrow Transplant. Mar 2006;37(5):469-77. [Medline].
Railey MD, Lokhnygina Y, Buckley RH. Long-term clinical outcome of patients with severe combined immunodeficiency who received related donor bone marrow transplants without pretransplant chemotherapy or post-transplant GVHD prophylaxis. J Pediatr. Dec 2009;155(6):834-840.e1. [Medline].
Ariga T. Gene therapy for primary immunodeficiency diseases: recent progress and misgivings. Curr Pharm Des. 2006;12(5):549-56. [Medline].
Fischer A, Hacein-Bey S, Le Deist F, de Saint Basile G, Cavazzana-Calvo M. Gene therapy for human severe combined immunodeficiencies. Immunity. Jul 2001;15(1):1-4. [Medline].
Qasim W, Gaspar HB, Thrasher AJ. Progress and prospects: gene therapy for inherited immunodeficiencies. Gene Ther. Nov 2009;16(11):1285-91. [Medline].
Friedrich W, Hönig M, Müller SM. Long-term follow-up in patients with severe combined immunodeficiency treated by bone marrow transplantation. Immunol Res. 2007;38(1-3):165-73. [Medline].
Bonilla FA, Geha RS. 2. Update on primary immunodeficiency diseases. J Allergy Clin Immunol. Feb 2006;117(2 Suppl Mini-Primer):S435-41. [Medline].

Table. Common Causes of SCID, Cellular Defects, and Inheritance Pattern

Table. Common Causes of SCID, Cellular Defects, and Inheritance Pattern

Genetic Disease	T-Cell Defect	B-Cell Defect	NK-Cell Defect	Inheritance Pattern
Reticular dysgenesis	Yes	Yes	Yes	Autosomal recessive
ADA deficiency	Yes	Yes	Yes	Autosomal recessive
RAG1 and RAG2 deficiency	Yes	Yes	No	Autosomal recessive
T-cell receptor and B-cell receptor recombination gene deficiency	Yes	Yes	No	Autosomal recessive
Common g chain deficiency	Yes	No	Yes	X-linked
JAK3 deficiency	Yes	No	No	Autosomal recessive
IL-7Ra deficiency	Yes	No	No	Autosomal recessive
Omenn syndrome	Yes	No	No	Autosomal recessive
ZAP-70 kinase	CD4⁺ present	No	No	Autosomal recessive
CD4⁺ lymphopenia	CD8⁺ present	No	No	Autosomal recessive
MHC II deficiency	CD8⁺ present	No	No	Autosomal recessive
p56lck deficiency	CD8⁺ present	No	No	Autosomal recessive

View Table List

Read more about Dermatologic Manifestations of Severe Combined Immunodeficiency on Medscape

Dermatologic Manifestations of Severe Combined Immunodeficiency Treatment & Management

Medical Care

Consultations