Immune Deficiency Diseases

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]

Outcomes  

Data in this section have been prepared by the CIBMTR® (Center for International Blood and Marrow Transplant Research®). The CIBMTR is a research collaboration between the National Marrow Donor Program® (NMDP)/Be The Match® and the Medical College of Wisconsin.

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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HCT Consultation Timing Guidelines  

The National Marrow Donor Program® (NMDP)/Be The Match® and the American Society for Transplantation and Cellular Therapy (ASTCT) have jointly developed guidelines for transplant consultation and referral timing based on disease characteristics. [5] The National Comprehensive Cancer Network Clinical Practice Guidelines (NCCN Guidelines®) were consulted when developing these guidelines and are a valuable tool in determining risk stratification. [6] 

Our 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 HCT Consultation Timing Guidelines

Clinical Trials Search and Support  

The NMDP/Be The Match offers the Be The Match® Jason Carter Clinical Trials Search and Support (CTSS) program, which can provide clinical trial navigation to your patients. The CTSS Program was created to help people with blood cancers or blood disorders and their families find and join clinical trials.

For more information, visit Clinical Trials Search and Support.  

References  

1. Notarangelo LD. Primary immunodeficiencies. J Allergy Clin Immunol. 2010; 125(2 Suppl 2): S182-194. Access
2. 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
3. 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
4. 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
5. NMDP/Be The Match and ASTCT Recommended Timing for Transplant Consultation. Download (PDF)
6. National Comprehensive Cancer Network. NCCN Guidelines. 2023. Access