title: Improving cellular therapy for primary immune deficiency diseases: recognition, diagnosis, and management.
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.
authors.affiliation: Division of Allergy, Immunology and Transplantation, National Institute of Allergy and Infectious Diseases, National Institutes of Health, Bethesda, MD, USA.
authors.forename: Linda M
authors.initials: LM
authors.lastname: Griffith
authors.forename: Morton J
authors.initials: MJ
authors.lastname: Cowan
authors.forename: Luigi D
authors.initials: LD
authors.lastname: Notarangelo
authors.forename: Jennifer M
authors.initials: JM
authors.lastname: Puck
authors.forename: Rebecca H
authors.initials: RH
authors.lastname: Buckley
authors.forename: Fabio
authors.initials: F
authors.lastname: Candotti
authors.forename: Mary Ellen
authors.initials: ME
authors.lastname: Conley
authors.forename: Thomas A
authors.initials: TA
authors.lastname: Fleisher
authors.forename: H Bobby
authors.initials: HB
authors.lastname: Gaspar
authors.forename: Donald B
authors.initials: DB
authors.lastname: Kohn
authors.forename: Hans D
authors.initials: HD
authors.lastname: Ochs
authors.forename: Richard J
authors.initials: RJ
authors.lastname: O'Reilly
authors.forename: J Douglas
authors.initials: JD
authors.lastname: Rizzo
authors.forename: Chaim M
authors.initials: CM
authors.lastname: Roifman
authors.forename: Trudy N
authors.initials: TN
authors.lastname: Small
authors.forename: William T
authors.initials: WT
authors.lastname: Shearer
mesh_terms: D002648:Child; D018380:Hematopoietic Stem Cell Transplantation; D006801:Humans; D007153:Immunologic Deficiency Syndromes / Q000175:diagnosis* / Q000601:surgery*; D017410:Practice Guidelines as Topic; D016511:Severe Combined Immunodeficiency / Q000175:diagnosis / Q000601:surgery