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
| Autor: | Daniela Barbarini, Grazia Bossi, Gaetana Anna Rispoli, Antonio Vergori, Edoardo Errichiello, Orsetta Zuffardi, Piero Marone, Vincenzina Monzillo, Mara De Amici, Marco Zecca, Lorenzo Andrea Bassi |
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| Jazyk: | angličtina |
| Rok vydání: | 2019 |
| Předmět: |
0303 health sciences
medicine.medical_treatment 030305 genetics & heredity Mycobacterium Avium Infection Hematopoietic stem cell transplantation Biology medicine.disease Compound heterozygosity Virology Germline 03 medical and health sciences 0302 clinical medicine IFNGR1 Gene Interferon Pediatrics Perinatology and Child Health Primary immunodeficiency medicine Copy-number variation 030217 neurology & neurosurgery Genetics (clinical) medicine.drug |
| Zdroj: | J Pediatr Genet |
| Popis: | 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. |
| Databáze: | OpenAIRE |
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