Immune deficiency diseases
Transplant advances and outcomes
Primary immunodeficiencies comprise more than 130 different disorders that affect the immune system's development, function, or a combination of both. These immunodeficiencies are rare and have an overall prevalence of approximately 1 in 10,000 live births. [1]
Allogeneic hematopoietic cell transplantation (HCT) is the only potential cure for the severe forms of immune deficiency diseases, including 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 limited lifespan. Research shows that a timely diagnosis is associated with decreased morbidity from recurrent infections. [2-4]
Recommended timing for transplant consultation
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
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 and ASTCT Recommended Timing for Transplant Consultation. Download PDF
- National Comprehensive Cancer Network. NCCN Guidelines. 2023. Access