Improving cellular therapy for primary immune deficiency diseases: recognition, diagnosis, and management.
Griffith LM,
Cowan MJ,
Notarangelo LD,
Puck JM,
Buckley RH,
Candotti F,
Conley ME,
Fleisher TA,
Gaspar HB,
Kohn DB,
Ochs HD,
O'Reilly RJ,
Rizzo JD,
Roifman CM,
Small TN,
Shearer WT;
Workshop Participants.
Buckley RH, Fleischer TA, Puck JM, Bleesing JJ, Boyle M, Risma K, Routes JM, Shearer WT, Torgerson TR, Cowan MJ, Roifman CM, Burroughs L, Cunningham-Rundles C, DeRavin SS, Dvorak CC, Gaspar HB, Kamani N, Kapoor N, Kohn DB, Milner JD, Notarangelo LD, O'Reilly RJ, Puck JM, Szabolcs P, Candotti F, Kang EM, Nichols KE, Albert MH, Haddad E, Ochs HD, Orange J, Rawlings DJ, Conley ME, Small TN, Chinen J, Markert LM, Pai SY, Schultz KR, Szabolcs P, Notarangelo LD, Rizzo JD, Cowan MJ, Griffith LM, Wedgwood JF, Cowan MJ, Griffith LM, Notarangelo LD, Puck JM, Albert MH, Ballard B, Bleesing JJ, Bowman J, Boyle M, Buckley RH, Burroughs L, Candotti F, Chinen J, Conley ME, Cooper S, Cunningham-Rundles C, Czechowicz A, DeRavin SS, Dvorak CC, Ferriss WT, Fleisher TA, Gaspar HB, Haddad E, Hartzman RJ, Hershfield M, Hyatt-Knorr H, Kamani NR, Kang EM, Kapoor N, Kohn DB, Kozlovsky B, Malech HL, Markert ML, Milner JD, Modell F, Modell V, Nichols KE, Ochs HD, Orange J, O'Reilly MM, O'Reilly RJ, Pai SY, Rawlings DJ, Risma K, Rizzo JD, Roifman CM, Routes JM, Sang C, Schlautmann ND, Schultz KR, Shearer WT, Shizuru JA, Siddiqui M, Small TN, Sullivan KE, Szabolcs P, Torgerson TR, Wedgwood JF, Wu RS.
Source
Division of Allergy, Immunology and Transplantation, National Institute of Allergy and Infectious Diseases, National Institutes of Health, Bethesda, MD, USA.
Abstract
More than 20 North American academic centers account for the majority of hematopoietic stem cell transplantation (HCT) procedures for primary immunodeficiency diseases (PIDs), with smaller numbers performed at additional sites. Given the importance of a timely diagnosis of these rare diseases and the diversity of practice sites, there is a need for guidance as to best practices in management of patients with PIDs before, during, and in follow-up for definitive treatment. In this conference report of immune deficiency experts and HCT physicians who care for patients with PIDs, we present expert guidance for (1) PID diagnoses that are indications for HCT, including severe combined immunodeficiency disease (SCID), combined immunodeficiency disease, and other non-SCID diseases; (2) the critical importance of a high degree of suspicion of the primary care physician and timeliness of diagnosis for PIDs; (3) the need for rapid referral to an immune deficiency expert, center with experience in HCT, or both for patients with PIDs; (4) medical management of a child with suspicion of SCID/combined immunodeficiency disease while confirming the diagnosis, including infectious disease management and workup; (5) the posttransplantation follow-up visit schedule; (6) antimicrobial prophylaxis after transplantation, including gamma globulin administration; and (7) important indications for return to the transplantation center after discharge. Finally, we discuss the role of high-quality databases in treatment of PIDs and HCT as an element of the infrastructure that will be needed for productive multicenter clinical trials in these rare diseases.
- PMID:
- 20004776
- [PubMed - indexed for MEDLINE]
- PMCID:
- PMC2831471
Free PMC ArticleFIG 1
Features of congenital cellular immunodeficiency.
J Allergy Clin Immunol. 2009 December;124(6):1152-60.e12.
FIG 2
The primary care physician's role in the diagnosis of SCID.
J Allergy Clin Immunol. 2009 December;124(6):1152-60.e12.
FIG 3
The immune deficiency expert's role in the diagnosis of SCID. TREC, T-cell receptor excision circle.
J Allergy Clin Immunol. 2009 December;124(6):1152-60.e12.
FIG E1
Preparation of patients with SCID for HCT. IV, Intravenous; SC, subcutaneous.
J Allergy Clin Immunol. 2009 December;124(6):1152-60.e12.
FIG E2
Management after HCT for PIDs. HSV, Herpes simplex virus; IVIG, Intravenous immunoglobulin.
J Allergy Clin Immunol. 2009 December;124(6):1152-60.e12.
FIG E3
When to call the transplantation center after discharge. ANC, absolute neutrophil count.
J Allergy Clin Immunol. 2009 December;124(6):1152-60.e12.
Full Text Sources
Other Literature Sources