AA Amyloidosis Secondary to Primary Immune Deficiency: About 40 Cases Including 2 New French Cases and a Systematic Literature Review.

AA amyloidosis Bronchiectasis Chronic infections Common variable immunodeficiency Humoral deficiency Long-term complication Nephrotic syndrome Primary immune deficiency Prognosis Systematic review

Journal

The journal of allergy and clinical immunology. In practice
ISSN: 2213-2201
Titre abrégé: J Allergy Clin Immunol Pract
Pays: United States
ID NLM: 101597220

Informations de publication

Date de publication:
02 2021
Historique:
received: 14 05 2020
revised: 08 09 2020
accepted: 09 09 2020
pubmed: 3 10 2020
medline: 22 5 2021
entrez: 2 10 2020
Statut: ppublish

Résumé

Primary immune deficiencies (PIDs) are a heterogeneous group of disorders resulting from defects in immune system. They lead to increased susceptibility to infections and immune dysregulation. The resulting chronic inflammation can induce long-term complications, including AA amyloidosis (AAA). To present the French cases of PID-related AAA and perform a systematic literature review to determine its main features and predisposing factors. A systematic literature review was performed by searching MEDLINE up until 2019. New French cases were identified with the help of the Reference Center for Auto-Inflammatory Diseases and AA Amyloidosis and the Reference Center for Hereditary Immune Deficiencies. Forty patients were identified including 2 new French cases. PIDs were varied: immunoglobulin deficits (n = 30), chronic granulomatous disease (n = 3), hyper-IgM syndrome (n = 3), hereditary complete C4 deficiency (n = 1), leucocyte adhesion deficiency type 1 (n = 1), hyper-IgE syndrome (n = 1), and Chediak-Higashi syndrome (n = 1). The mean age at PID diagnosis was 22.2 ± 16.02 years. Renal involvement was the most common manifestation of AAA (80%). Infections were extremely heterogeneous; bacterial infection with pulmonary involvement was the most frequent. Bronchiectasis was particularly common (52.5%). The delay between the first symptoms of PID and AAA diagnosis was 16.18 ± 7 years. Thirteen concomitant diagnoses were made. Twenty patients died during follow-up. AAA is a rare life-threatening complication of PID, especially in cases of long diagnostic and therapeutic delays. Bronchiectasis should be considered as a warning sign of chronic inflammation and increased risk of AAA.

Sections du résumé

BACKGROUND
Primary immune deficiencies (PIDs) are a heterogeneous group of disorders resulting from defects in immune system. They lead to increased susceptibility to infections and immune dysregulation. The resulting chronic inflammation can induce long-term complications, including AA amyloidosis (AAA).
OBJECTIVES
To present the French cases of PID-related AAA and perform a systematic literature review to determine its main features and predisposing factors.
METHODS
A systematic literature review was performed by searching MEDLINE up until 2019. New French cases were identified with the help of the Reference Center for Auto-Inflammatory Diseases and AA Amyloidosis and the Reference Center for Hereditary Immune Deficiencies.
RESULTS
Forty patients were identified including 2 new French cases. PIDs were varied: immunoglobulin deficits (n = 30), chronic granulomatous disease (n = 3), hyper-IgM syndrome (n = 3), hereditary complete C4 deficiency (n = 1), leucocyte adhesion deficiency type 1 (n = 1), hyper-IgE syndrome (n = 1), and Chediak-Higashi syndrome (n = 1). The mean age at PID diagnosis was 22.2 ± 16.02 years. Renal involvement was the most common manifestation of AAA (80%). Infections were extremely heterogeneous; bacterial infection with pulmonary involvement was the most frequent. Bronchiectasis was particularly common (52.5%). The delay between the first symptoms of PID and AAA diagnosis was 16.18 ± 7 years. Thirteen concomitant diagnoses were made. Twenty patients died during follow-up.
CONCLUSION
AAA is a rare life-threatening complication of PID, especially in cases of long diagnostic and therapeutic delays. Bronchiectasis should be considered as a warning sign of chronic inflammation and increased risk of AAA.

Identifiants

pubmed: 33007500
pii: S2213-2198(20)31001-1
doi: 10.1016/j.jaip.2020.09.023
pii:
doi:

Substances chimiques

Immunoglobulins 0

Types de publication

Journal Article Systematic Review

Langues

eng

Sous-ensembles de citation

IM

Pagination

745-752.e1

Informations de copyright

Copyright © 2020 American Academy of Allergy, Asthma & Immunology. Published by Elsevier Inc. All rights reserved.

Auteurs

Marion Delplanque (M)

Sorbonne Université, AP-HP, Hôpital Tenon, Service de médecine interne, Centre de référence des maladies auto-inflammatoires et des amyloses d'origine inflammatoire (CEREMAIA), GRC-28 (Groupe de recherche clinique amylose AA Sorbonne univeristé), Paris, France.

Lionel Galicier (L)

Service d'Immunopathologie Clinique, Hôpital Saint Louis, AP-HP, Paris, France.

Eric Oziol (E)

Service de Médecine Interne, Centre Hospitalier de Béziers, Béziers, France.

Stéphanie Ducharme-Bénard (S)

Service de Médecine Interne, Hôpital du Sacré-Cœur de Montréal, Montréal, Québec, Canada.

Eric Oksenhendler (E)

Service d'Immunopathologie Clinique, Hôpital Saint Louis, AP-HP, Paris, France.

David Buob (D)

Sorbonne Université, AP-HP, Hôpital Tenon, Service d'Anatomie et Cytologie pathologiques, Paris, France.

Gilles Grateau (G)

Sorbonne Université, AP-HP, Hôpital Tenon, Service de médecine interne, Centre de référence des maladies auto-inflammatoires et des amyloses d'origine inflammatoire (CEREMAIA), GRC-28 (Groupe de recherche clinique amylose AA Sorbonne univeristé), Paris, France.

David Boutboul (D)

Service d'Immunopathologie Clinique, Hôpital Saint Louis, AP-HP, Paris, France.

Sophie Georgin-Lavialle (S)

Sorbonne Université, AP-HP, Hôpital Tenon, Service de médecine interne, Centre de référence des maladies auto-inflammatoires et des amyloses d'origine inflammatoire (CEREMAIA), GRC-28 (Groupe de recherche clinique amylose AA Sorbonne univeristé), Paris, France. Electronic address: sophie.georgin-lavialle@aphp.fr.

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