Immune Deficiency Diseases
Primary immunodeficiencies comprise more than 130 different disorders that affect the development, function, or both of the immune system. They are rare, and have an overall prevalence of approximately 1:10,000 live births. [1]
Allogeneic hematopoietic cell transplantation (HCT) is the only potential cure for the severe forms of the immune deficiency diseases: severe combined immunodeficiency (SCID), Wiskott-Aldrich syndrome, Omenn syndrome, X-linked lymphoproliferative syndrome, chronic granulomatous disease, leukocyte adhesion deficiency, DiGeorge syndrome and others.
Children born with a severe immune system disorder or primary immune deficiency have a very limited lifespan, and research shows that a timely diagnosis is associated with decreased morbidity from recurrent infections. [2,3, 4]
Outcomes
Review outcomes for allogeneic transplantation in patients with immune deficiency diseases below. View additional slides showing demographic data and transplant trends.
Data in this section have been prepared by CIBMTR® (Center for International Blood and Marrow Transplant Research), our research program.
Figure 1: Immune Syndromes: SCID and WAS Survival, Unrelated HCT
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Figure 2: Pediatric SCID Survival, Unrelated Cord Blood HCT
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Referral Timing Guidelines
These guidelines highlight disease categories that include patients at risk for disease progression and who should be referred for a consultation for transplantation. [5]
Transplant Consultation Guidelines: Immune Deficiency Diseases
Including Severe Combined Immunodeficiency syndromes, Wiskott-Aldrich syndrome, Omenn syndrome, X-linked lymphoproliferative syndrome, severe congenital neutropenia and others.
- At diagnosis or if detected on newborn screening
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View complete Referral Timing Guidelines
References
- Notarangelo LD. Primary immunodeficiencies. J Allergy Clin Immunol. 2010; 125(2 Suppl 2): S182-194. Access
- Heimall J, Logan BR, Cowan MJ, et al. Immune reconstitution and survival of 100 SCID patients post hematopoietic cell transplant: A PIDTC natural history study. Blood. 2017; Epub October 11. Access
- Brown L, Xu-Bayford J, Allwood Z, et al. Neonatal diagnosis of severe combined immunodeficiency leads to significantly improved survival outcome: The case for newborn screening. Blood. 2011; 117(11): 3243-3246. Access
- Pai S-Y, Logan BR, Griffith LM, et al. Transplantation outcomes for severe combined immunodeficiency, 2000-2009. New Engl J Med. 2014; 371(5): 434-446. Access
- NMDP/Be The Match and ASBMT Recommended Timing for Transplant Consultation. Download (PDF)