Family History of Early Infant Death Correlates with Earlier Age at Diagnosis But Not Shorter Time to Diagnosis for Severe Combined Immunodeficiency.

ABSTRACT:

Background

Severe combined immunodeficiency (SCID) is fatal unless treated with hematopoietic stem cell transplant. Delay in diagnosis is common without newborn screening. Family history of infant death due to infection or known SCID (FH) has been associated with earlier diagnosis.

Objective

The aim of this study was to identify the clinical features that affect age at diagnosis (AD) and time to the diagnosis of SCID.

Methods

From 2005 to 2016, 147 SCID patients were referred to the Asian Primary Immunodeficiency Network. Patients with genetic diagnosis, age at presentation (AP), and AD were selected for study.

Results

A total of 88 different SCID gene mutations were identified in 94 patients, including 49 IL2RG mutations, 12 RAG1 mutations, 8

SUBMITTER: Luk ADW 

PROVIDER: S-EPMC5506088 | biostudies-literature | 2017

REPOSITORIES: biostudies-literature