Bacillus Calmette–Guérin (BCG)‐associated hemophagocytic lymphohistiocytosis in the setting of IFN‐γR1 deficiency: A diagnostic dilemma
Abstract Hemophagocytic lymphohistiocytosis (HLH) disease is a severe immune dysregulation caused by mutations in genes required for lymphocyte cytotoxicity function. However, HLH‐like syndrome may develop secondary to infections, malignancy, and autoimmunity. Primary immunodeficiencies (PIDs) could...
| Main Authors: | , , , , , , |
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| Format: | Article |
| Language: | English |
| Published: |
Wiley
2020-07-01
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| Series: | eJHaem |
| Online Access: | https://doi.org/10.1002/jha2.5 |
| _version_ | 1797739942827261952 |
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| author | Anahita Razaghian Leila Parvaneh Mona Delkhah Arash Abbasi Parisa Sadeghirad Mohammad Shahrooei Nima Parvaneh |
| author_facet | Anahita Razaghian Leila Parvaneh Mona Delkhah Arash Abbasi Parisa Sadeghirad Mohammad Shahrooei Nima Parvaneh |
| author_sort | Anahita Razaghian |
| collection | DOAJ |
| description | Abstract Hemophagocytic lymphohistiocytosis (HLH) disease is a severe immune dysregulation caused by mutations in genes required for lymphocyte cytotoxicity function. However, HLH‐like syndrome may develop secondary to infections, malignancy, and autoimmunity. Primary immunodeficiencies (PIDs) could predispose to HLH syndrome after uncontrolled infections. Mendelian susceptibility to mycobacterial disease (MSMD) is a PID characterized by a predisposition to clinical disease caused by weakly virulent mycobacteria, such as bacillus Calmette–Guérin (BCG). Inborn errors of interferon‐γ immunity caused by mutations in 16 genes, underly MSMD development. Here, we report a case of fatal interferon‐γ receptor 1 deficiency with disseminated BCG infection, which was initially diagnosed with HLH disease. We also include a review of cases reported in the literature. |
| first_indexed | 2024-03-12T14:05:25Z |
| format | Article |
| id | doaj.art-1908685692904c609aae5d2213d4c384 |
| institution | Directory Open Access Journal |
| issn | 2688-6146 |
| language | English |
| last_indexed | 2024-03-12T14:05:25Z |
| publishDate | 2020-07-01 |
| publisher | Wiley |
| record_format | Article |
| series | eJHaem |
| spelling | doaj.art-1908685692904c609aae5d2213d4c3842023-08-21T14:10:49ZengWileyeJHaem2688-61462020-07-011133433710.1002/jha2.5Bacillus Calmette–Guérin (BCG)‐associated hemophagocytic lymphohistiocytosis in the setting of IFN‐γR1 deficiency: A diagnostic dilemmaAnahita Razaghian0Leila Parvaneh1Mona Delkhah2Arash Abbasi3Parisa Sadeghirad4Mohammad Shahrooei5Nima Parvaneh6Department of Pediatrics Division of Allergy and Clinical Immunology Tehran University of Medical Sciences Tehran IranDepartment of Biology Central Tehran Branch Islamic Azad University Tehran IranFlow Cytometry Laboratory Children's Medical Center Tehran IranDepartment of Pediatrics Tehran University of Medical Sciences Tehran IranDepartment of Pediatrics Division of Allergy and Clinical Immunology Tehran University of Medical Sciences Tehran IranDepartment of Microbiology and Immunology Laboratory of Clinical Bacteriology and Mycology KU Leuven Leuven BelgiumDepartment of Pediatrics Division of Allergy and Clinical Immunology Tehran University of Medical Sciences Tehran IranAbstract Hemophagocytic lymphohistiocytosis (HLH) disease is a severe immune dysregulation caused by mutations in genes required for lymphocyte cytotoxicity function. However, HLH‐like syndrome may develop secondary to infections, malignancy, and autoimmunity. Primary immunodeficiencies (PIDs) could predispose to HLH syndrome after uncontrolled infections. Mendelian susceptibility to mycobacterial disease (MSMD) is a PID characterized by a predisposition to clinical disease caused by weakly virulent mycobacteria, such as bacillus Calmette–Guérin (BCG). Inborn errors of interferon‐γ immunity caused by mutations in 16 genes, underly MSMD development. Here, we report a case of fatal interferon‐γ receptor 1 deficiency with disseminated BCG infection, which was initially diagnosed with HLH disease. We also include a review of cases reported in the literature.https://doi.org/10.1002/jha2.5 |
| spellingShingle | Anahita Razaghian Leila Parvaneh Mona Delkhah Arash Abbasi Parisa Sadeghirad Mohammad Shahrooei Nima Parvaneh Bacillus Calmette–Guérin (BCG)‐associated hemophagocytic lymphohistiocytosis in the setting of IFN‐γR1 deficiency: A diagnostic dilemma eJHaem |
| title | Bacillus Calmette–Guérin (BCG)‐associated hemophagocytic lymphohistiocytosis in the setting of IFN‐γR1 deficiency: A diagnostic dilemma |
| title_full | Bacillus Calmette–Guérin (BCG)‐associated hemophagocytic lymphohistiocytosis in the setting of IFN‐γR1 deficiency: A diagnostic dilemma |
| title_fullStr | Bacillus Calmette–Guérin (BCG)‐associated hemophagocytic lymphohistiocytosis in the setting of IFN‐γR1 deficiency: A diagnostic dilemma |
| title_full_unstemmed | Bacillus Calmette–Guérin (BCG)‐associated hemophagocytic lymphohistiocytosis in the setting of IFN‐γR1 deficiency: A diagnostic dilemma |
| title_short | Bacillus Calmette–Guérin (BCG)‐associated hemophagocytic lymphohistiocytosis in the setting of IFN‐γR1 deficiency: A diagnostic dilemma |
| title_sort | bacillus calmette guerin bcg associated hemophagocytic lymphohistiocytosis in the setting of ifn γr1 deficiency a diagnostic dilemma |
| url | https://doi.org/10.1002/jha2.5 |
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