Systemic aspergillosis in a patient with interferon gamma receptor 1 deficiency; a case report
Abstract Background Interferon-gamma receptor deficiency is a heterogeneous spectrum of disease which involves mutations in IFNGR1, IFNGR2 genes, and the downstream signaling proteins such as STAT1. These mutations are associated with immunodeficiency 27 A and 27B, making the patient prone to mycoba...
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| Format: | Article |
| Language: | English |
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BMC
2023-06-01
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| Series: | BMC Pediatrics |
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| Online Access: | https://doi.org/10.1186/s12887-023-04093-z |
| _version_ | 1797806542566719488 |
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| author | Hossein Esmaeilzadeh Zahra Chavoshzadeh Seyed Hesamedin Nabavizadeh Soheila Alyasin Ali Amanati Aida Askarisarvestani |
| author_facet | Hossein Esmaeilzadeh Zahra Chavoshzadeh Seyed Hesamedin Nabavizadeh Soheila Alyasin Ali Amanati Aida Askarisarvestani |
| author_sort | Hossein Esmaeilzadeh |
| collection | DOAJ |
| description | Abstract Background Interferon-gamma receptor deficiency is a heterogeneous spectrum of disease which involves mutations in IFNGR1, IFNGR2 genes, and the downstream signaling proteins such as STAT1. These mutations are associated with immunodeficiency 27 A and 27B, making the patient prone to mycobacterial infections. Patients with this condition are also at increased risk for affliction with viral and bacterial infections, such as with the Herpesviridae family, Listeria, and Salmonella. Moreover, SH2B3 mutation is associated with autoimmune and lymphoproliferative conditions. Case presentation the patient was a 19-month-old infant girl who presented with a two-week history of fever. She had near-normal flowcytometry with high IgM and IgE. She had pneumonic infiltration in her chest and right hilar and para-aortic lymphadenopathy. PCR of whole blood for Aspergillus fumigatus came back positive. In her Whole Exome Sequencing she had IFNGR1 and SH2B3 mutations. Conclusion systemic fungal infections such as Aspergillosis can occur in patients with interferon-gamma receptor one deficiency. This type of immunodeficiency should be considered in treating patients with systemic Aspergillosis. |
| first_indexed | 2024-03-13T06:08:50Z |
| format | Article |
| id | doaj.art-d66341aeaba74cfa9aafccad4555cafa |
| institution | Directory Open Access Journal |
| issn | 1471-2431 |
| language | English |
| last_indexed | 2024-03-13T06:08:50Z |
| publishDate | 2023-06-01 |
| publisher | BMC |
| record_format | Article |
| series | BMC Pediatrics |
| spelling | doaj.art-d66341aeaba74cfa9aafccad4555cafa2023-06-11T11:25:24ZengBMCBMC Pediatrics1471-24312023-06-012311410.1186/s12887-023-04093-zSystemic aspergillosis in a patient with interferon gamma receptor 1 deficiency; a case reportHossein Esmaeilzadeh0Zahra Chavoshzadeh1Seyed Hesamedin Nabavizadeh2Soheila Alyasin3Ali Amanati4Aida Askarisarvestani5Division of Allergy and Clinical Immunology, Department of Pediatrics, School of Medicine, Shiraz University of Medical SciencesDivision of Allergy and Clinical Immunology, Department of Pediatrics, Mofid Hospital, Shahid Beheshti University of Medical SciencesDivision of Allergy and Clinical Immunology, Department of Pediatrics, School of Medicine, Shiraz University of Medical SciencesDivision of Allergy and Clinical Immunology, Department of Pediatrics, School of Medicine, Shiraz University of Medical SciencesDivision of Infectious Diseases, Department of Pediatrics, School of Medicine, Shiraz University of Medical SciencesDivision of Allergy and Clinical Immunology, Department of Pediatrics, School of Medicine, Shiraz University of Medical SciencesAbstract Background Interferon-gamma receptor deficiency is a heterogeneous spectrum of disease which involves mutations in IFNGR1, IFNGR2 genes, and the downstream signaling proteins such as STAT1. These mutations are associated with immunodeficiency 27 A and 27B, making the patient prone to mycobacterial infections. Patients with this condition are also at increased risk for affliction with viral and bacterial infections, such as with the Herpesviridae family, Listeria, and Salmonella. Moreover, SH2B3 mutation is associated with autoimmune and lymphoproliferative conditions. Case presentation the patient was a 19-month-old infant girl who presented with a two-week history of fever. She had near-normal flowcytometry with high IgM and IgE. She had pneumonic infiltration in her chest and right hilar and para-aortic lymphadenopathy. PCR of whole blood for Aspergillus fumigatus came back positive. In her Whole Exome Sequencing she had IFNGR1 and SH2B3 mutations. Conclusion systemic fungal infections such as Aspergillosis can occur in patients with interferon-gamma receptor one deficiency. This type of immunodeficiency should be considered in treating patients with systemic Aspergillosis.https://doi.org/10.1186/s12887-023-04093-zIFNGR1DSH2B3Aspergillosis |
| spellingShingle | Hossein Esmaeilzadeh Zahra Chavoshzadeh Seyed Hesamedin Nabavizadeh Soheila Alyasin Ali Amanati Aida Askarisarvestani Systemic aspergillosis in a patient with interferon gamma receptor 1 deficiency; a case report BMC Pediatrics IFNGR1D SH2B3 Aspergillosis |
| title | Systemic aspergillosis in a patient with interferon gamma receptor 1 deficiency; a case report |
| title_full | Systemic aspergillosis in a patient with interferon gamma receptor 1 deficiency; a case report |
| title_fullStr | Systemic aspergillosis in a patient with interferon gamma receptor 1 deficiency; a case report |
| title_full_unstemmed | Systemic aspergillosis in a patient with interferon gamma receptor 1 deficiency; a case report |
| title_short | Systemic aspergillosis in a patient with interferon gamma receptor 1 deficiency; a case report |
| title_sort | systemic aspergillosis in a patient with interferon gamma receptor 1 deficiency a case report |
| topic | IFNGR1D SH2B3 Aspergillosis |
| url | https://doi.org/10.1186/s12887-023-04093-z |
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