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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 
1   Department of Pediatrics, Fondazione Istituto di Ricovero e Cura a Carattere Scientifico (IRCCS) Policlinico San Matteo, Pavia, Italy
,
Edoardo Errichiello
2   Department of Molecular Medicine, University of Pavia, Pavia, Italy
,
Orsetta Zuffardi
2   Department of Molecular Medicine, University of Pavia, Pavia, Italy
,
Piero Marone
3   Microbiology and Virology Unit, Fondazione Istituto di Ricovero e Cura a Carattere Scientifico (IRCCS) Policlinico San Matteo, Pavia, Italy
,
Vincenzina Monzillo
3   Microbiology and Virology Unit, Fondazione Istituto di Ricovero e Cura a Carattere Scientifico (IRCCS) Policlinico San Matteo, Pavia, Italy
,
Daniela Barbarini
3   Microbiology and Virology Unit, Fondazione Istituto di Ricovero e Cura a Carattere Scientifico (IRCCS) Policlinico San Matteo, Pavia, Italy
,
Antonio Vergori
1   Department of Pediatrics, Fondazione Istituto di Ricovero e Cura a Carattere Scientifico (IRCCS) Policlinico San Matteo, Pavia, Italy
,
Lorenzo Andrea Bassi
1   Department of Pediatrics, Fondazione Istituto di Ricovero e Cura a Carattere Scientifico (IRCCS) Policlinico San Matteo, Pavia, Italy
,
Gaetana Anna Rispoli
4   Department of Radiology, US Pediatric Radiology, Fondazione Istituto di Ricovero e Cura a Carattere Scientifico (IRCCS) Policlinico San Matteo, Pavia, Italy
,
Mara De Amici
5   Immuno-Allergology and Clinical Chemistry Laboratory, Fondazione Istituto di Ricovero e Cura a Carattere Scientifico (IRCCS) Policlinico San Matteo, Pavia, Italy
,
Marco Zecca
6   Pediatric Hematology-Oncology, Fondazione Istituto di Ricovero e Cura a Carattere Scientifico (IRCCS) Policlinico San Matteo, Pavia, Italy
› Author Affiliations
Further Information

Publication History

22 June 2019

25 September 2019

Publication Date:
04 November 2019 (online)

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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
 

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