Clinical and immunological features in a cohort of patients with partial DiGeorge syndrome followed at a single center.


Journal

Blood
ISSN: 1528-0020
Titre abrégé: Blood
Pays: United States
ID NLM: 7603509

Informations de publication

Date de publication:
13 06 2019
Historique:
received: 08 11 2018
accepted: 03 04 2019
pubmed: 25 4 2019
medline: 10 1 2020
entrez: 25 4 2019
Statut: ppublish

Résumé

DiGeorge syndrome (DGS) is a primary immunodeficiency characterized by various degrees of T-cell deficiency. In partial DGS (pDGS), other risk factors could predispose to recurrent infections, autoimmunity, and allergy. The aim of this study was to assess the effect of different factors in the development of infections, autoimmunity, and/or allergy in patients with pDGS. We studied 467 pDGS patients in follow-up at Great Ormond Street Hospital. Using a multivariate approach, we observed that palatal anomalies represent a risk factor for the development of recurrent otitis media with effusion. Gastroesophageal reflux/dysphagia and asthma/rhinitis represent a risk factor for the development of recurrent upper respiratory tract infections. Allergy and autoimmunity were associated with persistently low immunoglobulin M levels and lymphopenia, respectively. Patients with autoimmunity showed lower levels of CD3

Identifiants

pubmed: 31015189
pii: S0006-4971(20)42489-9
doi: 10.1182/blood.2018885244
doi:

Types de publication

Journal Article Research Support, Non-U.S. Gov't

Langues

eng

Sous-ensembles de citation

IM

Pagination

2586-2596

Informations de copyright

© 2019 by The American Society of Hematology.

Auteurs

Giuliana Giardino (G)

Department of Translational Medical Sciences, Federico II University of Naples, Naples, Italy.

Nesrine Radwan (N)

Pediatric Allergy and Immunology Unit, Ain Sham University, Cairo, Egypt; and.

Patra Koletsi (P)

Department of Paediatric Immunology.

Deborah M Morrogh (DM)

North East Thames Regional Genetics Laboratory.

Winnie Ip (W)

Department of Paediatric Immunology.

Austen Worth (A)

Department of Paediatric Immunology.

Alison Jones (A)

Department of Paediatric Immunology.

Imke Meyer-Parsonson (I)

Department of Paediatrics, Great Ormond Street Hospital, London, United Kingdom.

H Bobby Gaspar (HB)

Department of Paediatric Immunology.

Kimberly Gilmour (K)

Department of Paediatric Immunology.

E Graham Davies (EG)

Department of Paediatric Immunology.

Fani Ladomenou (F)

Department of Paediatric Immunology.

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