Establishing diagnostic criteria for severe combined immunodeficiency disease (SCID), leaky SCID, and Omenn syndrome: the Primary Immune Deficiency Treatment Consortium experience.

ABSTRACT:

Background

The approach to the diagnosis of severe combined immunodeficiency disease (SCID) and related disorders varies among institutions and countries.

Objectives

The Primary Immune Deficiency Treatment Consortium attempted to develop a uniform set of criteria for diagnosing SCID and related disorders and has evaluated the results as part of a retrospective study of SCID in North America.

Methods

Clinical records from 2000 through 2009 at 27 centers in North America were collected on 332 children treated with hematopoietic stem cell transplantation (HCT), enzyme replacement therapy, or gene therapy for SCID and related disorders. Eligibility for inclusion in the study and classification into disease groups were established by using set criteria and applied by an ex

SUBMITTER: Shearer WT 

PROVIDER: S-EPMC3972266 | biostudies-literature | 2014 Apr

REPOSITORIES: biostudies-literature