Disseminated Mycobacterium Avium Infection in a Child with Complete Interferon-γ Receptor 1 Deficiency due to Compound Heterozygosis of IFNGR1 for a Subpolymorphic Copy Number Variation and a Novel Splice-Site Variant

Grazia Bossi; Edoardo Errichiello; Orsetta Zuffardi; Piero Marone; Vincenzina Monzillo; Daniela Barbarini; Antonio Vergori; Lorenzo Andrea Bassi; Gaetana Anna Rispoli; Mara De Amici; Marco Zecca

doi:10.1055/s-0039-1700803

Journal of Pediatric Genetics, Inhaltsverzeichnis

J Pediatr Genet 2020; 09(03): 186-192
DOI: 10.1055/s-0039-1700803

Case Report

Georg Thieme Verlag KG Stuttgart · New York

Disseminated Mycobacterium Avium Infection in a Child with Complete Interferon-γ Receptor 1 Deficiency due to Compound Heterozygosis of IFNGR1 for a Subpolymorphic Copy Number Variation and a Novel Splice-Site Variant

Grazia Bossi

¹Department of Pediatrics, Fondazione Istituto di Ricovero e Cura a Carattere Scientifico (IRCCS) Policlinico San Matteo, Pavia, Italy

,

Edoardo Errichiello

²Department of Molecular Medicine, University of Pavia, Pavia, Italy

,

Orsetta Zuffardi

²Department of Molecular Medicine, University of Pavia, Pavia, Italy

,

Piero Marone

³Microbiology and Virology Unit, Fondazione Istituto di Ricovero e Cura a Carattere Scientifico (IRCCS) Policlinico San Matteo, Pavia, Italy

,

Vincenzina Monzillo

³Microbiology and Virology Unit, Fondazione Istituto di Ricovero e Cura a Carattere Scientifico (IRCCS) Policlinico San Matteo, Pavia, Italy

,

Daniela Barbarini

³Microbiology and Virology Unit, Fondazione Istituto di Ricovero e Cura a Carattere Scientifico (IRCCS) Policlinico San Matteo, Pavia, Italy

,

Antonio Vergori

¹Department of Pediatrics, Fondazione Istituto di Ricovero e Cura a Carattere Scientifico (IRCCS) Policlinico San Matteo, Pavia, Italy

,

Lorenzo Andrea Bassi

¹Department of Pediatrics, Fondazione Istituto di Ricovero e Cura a Carattere Scientifico (IRCCS) Policlinico San Matteo, Pavia, Italy

,

Gaetana Anna Rispoli

⁴Department of Radiology, US Pediatric Radiology, Fondazione Istituto di Ricovero e Cura a Carattere Scientifico (IRCCS) Policlinico San Matteo, Pavia, Italy

,

Mara De Amici

⁵Immuno-Allergology and Clinical Chemistry Laboratory, Fondazione Istituto di Ricovero e Cura a Carattere Scientifico (IRCCS) Policlinico San Matteo, Pavia, Italy

,

Marco Zecca

⁶Pediatric Hematology-Oncology, Fondazione Istituto di Ricovero e Cura a Carattere Scientifico (IRCCS) Policlinico San Matteo, Pavia, Italy

› Institutsangaben

Abstract

Complete interferon-γ receptor 1 deficiency is a monogenic primary immunodeficiency caused by IFNGR1 germline defects, with autosomal dominant or recessive inheritance, which results in invasive mycobacterial diseases with varying degrees of severity. Most of the autosomal recessive IFNGR1 mutations are homozygous loss-of-function single-nucleotide variants, whereas large genomic deletions and compound heterozygosity have been very rarely reported. Herein we describe the clinical presentation, diagnosis, and successful treatment with hematopoietic stem cell transplantation of a child with disseminated Mycobacterium avium infection due to compound heterozygosity for a subpolymorphic copy number variation and a novel splice-site variant.

Keywords

IFNGR1 gene - compound heterozygosity - copy number variation

Volltext

Referenzen

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