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. 2009 Dec;124(6):1152-60.e12.
doi: 10.1016/j.jaci.2009.10.022.

Improving cellular therapy for primary immune deficiency diseases: recognition, diagnosis, and management

Linda M Griffith  1 , Morton J Cowan, Luigi D Notarangelo, Jennifer M Puck, Rebecca H Buckley, Fabio Candotti, Mary Ellen Conley, Thomas A Fleisher, H Bobby Gaspar, Donald B Kohn, Hans D Ochs, Richard J O'Reilly, J Douglas Rizzo, Chaim M Roifman, Trudy N Small, William T Shearer; Workshop Participants
Collaborators, Affiliations

Improving cellular therapy for primary immune deficiency diseases: recognition, diagnosis, and management

Linda M Griffith et al. J Allergy Clin Immunol. 2009 Dec.

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.

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Figures

FIG 1
FIG 1
Features of congenital cellular immunodeficiency.
FIG 2
FIG 2
The primary care physician's role in the diagnosis of SCID.
FIG 3
FIG 3
The immune deficiency expert's role in the diagnosis of SCID. TREC, T-cell receptor excision circle.
FIG E1
FIG E1
Preparation of patients with SCID for HCT. IV, Intravenous; SC, subcutaneous.
FIG E2
FIG E2
Management after HCT for PIDs. HSV, Herpes simplex virus; IVIG, Intravenous immunoglobulin.
FIG E3
FIG E3
When to call the transplantation center after discharge. ANC, absolute neutrophil count.
See this image and copyright information in PMC

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