The Multifaceted Syndromic Primary Immunodeficiencies in Children.

ABSTRACT:

Background

Disorders of immunity are poorly recognised in some rare multisystem genetic conditions. We aim to describe syndromic features and immunological defects in children with syndromic primary immunodeficiencies (sPIDs).

Methods

This is a retrospective descriptive study of children aged 0-18 years with sPIDs under the care of the paediatric immunology service at the Bristol Royal Hospital for Children, United Kingdom, from January 2006 to September 2021.

Results

sPIDs were identified in 36 patients. Genetic diagnoses which are not commonly associated with PIDs and not included in the International Union of Immunological Societies classification were present in 7/36 (19%): Trisomy 22, Arboleda-Tham syndrome, 2p16.3 deletion syndrome, supernumerary ring chromosome

SUBMITTER: Ng KF 

PROVIDER: S-EPMC10419544 | biostudies-literature | 2023 Jul

REPOSITORIES: biostudies-literature