Pulmonary Alveolar Proteinosis Due to Pneumocystis carinii in Type 1 Hyper-IgM Syndrome: A Case Report
Background: Pulmonary alveolar proteinosis (PAP) is a rare diffuse lung disease. Reports of rare cases of PAP due to Pneumocystis jirovecii (P. jirovecii) exist in infants with immunodeficiency diseases, but no cases have been reported to date in pediatric patients with type 1 hyper-IgM syndrome (HI...
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| Format: | Article |
| Language: | English |
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Frontiers Media S.A.
2020-06-01
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| Series: | Frontiers in Pediatrics |
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| Online Access: | https://www.frontiersin.org/article/10.3389/fped.2020.00264/full |
| _version_ | 1818498941569728512 |
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| author | Fei Zhou Zhang Jie Xin Yuan Lu Qin Lan Fang Tang |
| author_facet | Fei Zhou Zhang Jie Xin Yuan Lu Qin Lan Fang Tang |
| author_sort | Fei Zhou Zhang |
| collection | DOAJ |
| description | Background: Pulmonary alveolar proteinosis (PAP) is a rare diffuse lung disease. Reports of rare cases of PAP due to Pneumocystis jirovecii (P. jirovecii) exist in infants with immunodeficiency diseases, but no cases have been reported to date in pediatric patients with type 1 hyper-IgM syndrome (HIGM1).Case Presentation: Herein, we present a case of PAP secondary to P. jirovecii on an infant with HIGM1. He was admitted to our unit because of cough and tachypnea. Lung biopsy confirmed the diagnosis of PAP, whereas hexamine-silver staining of the bronchoalveolar lavage fluid identified P. jirovecii infection. No other probable cause of PAP was observed. Whole exome sequencing indicated a novel c.511dupA (p.I171N*30) hemizygous mutation in the CD40 ligand (CD40LG) gene. He was cured with bronchoalveolar lavage and compound sulfamethoxazole tablets.Conclusions: To our knowledge, this is the first reported case of P. jirovecii infection as a reversible cause of PAP in an infant with HIGM1. |
| first_indexed | 2024-12-10T20:22:24Z |
| format | Article |
| id | doaj.art-b14a2e9608d1497fb1a5fc5ca393815c |
| institution | Directory Open Access Journal |
| issn | 2296-2360 |
| language | English |
| last_indexed | 2024-12-10T20:22:24Z |
| publishDate | 2020-06-01 |
| publisher | Frontiers Media S.A. |
| record_format | Article |
| series | Frontiers in Pediatrics |
| spelling | doaj.art-b14a2e9608d1497fb1a5fc5ca393815c2022-12-22T01:34:58ZengFrontiers Media S.A.Frontiers in Pediatrics2296-23602020-06-01810.3389/fped.2020.00264527628Pulmonary Alveolar Proteinosis Due to Pneumocystis carinii in Type 1 Hyper-IgM Syndrome: A Case ReportFei Zhou ZhangJie Xin YuanLu QinLan Fang TangBackground: Pulmonary alveolar proteinosis (PAP) is a rare diffuse lung disease. Reports of rare cases of PAP due to Pneumocystis jirovecii (P. jirovecii) exist in infants with immunodeficiency diseases, but no cases have been reported to date in pediatric patients with type 1 hyper-IgM syndrome (HIGM1).Case Presentation: Herein, we present a case of PAP secondary to P. jirovecii on an infant with HIGM1. He was admitted to our unit because of cough and tachypnea. Lung biopsy confirmed the diagnosis of PAP, whereas hexamine-silver staining of the bronchoalveolar lavage fluid identified P. jirovecii infection. No other probable cause of PAP was observed. Whole exome sequencing indicated a novel c.511dupA (p.I171N*30) hemizygous mutation in the CD40 ligand (CD40LG) gene. He was cured with bronchoalveolar lavage and compound sulfamethoxazole tablets.Conclusions: To our knowledge, this is the first reported case of P. jirovecii infection as a reversible cause of PAP in an infant with HIGM1.https://www.frontiersin.org/article/10.3389/fped.2020.00264/fullpulmonary alveolar proteinosis (PAP)Pneumocystis jirovecii (P. jirovecii)hyper IgM syndrometype 1 (HIGM1)CD40 ligand (CD40LG)infant |
| spellingShingle | Fei Zhou Zhang Jie Xin Yuan Lu Qin Lan Fang Tang Pulmonary Alveolar Proteinosis Due to Pneumocystis carinii in Type 1 Hyper-IgM Syndrome: A Case Report Frontiers in Pediatrics pulmonary alveolar proteinosis (PAP) Pneumocystis jirovecii (P. jirovecii) hyper IgM syndrome type 1 (HIGM1) CD40 ligand (CD40LG) infant |
| title | Pulmonary Alveolar Proteinosis Due to Pneumocystis carinii in Type 1 Hyper-IgM Syndrome: A Case Report |
| title_full | Pulmonary Alveolar Proteinosis Due to Pneumocystis carinii in Type 1 Hyper-IgM Syndrome: A Case Report |
| title_fullStr | Pulmonary Alveolar Proteinosis Due to Pneumocystis carinii in Type 1 Hyper-IgM Syndrome: A Case Report |
| title_full_unstemmed | Pulmonary Alveolar Proteinosis Due to Pneumocystis carinii in Type 1 Hyper-IgM Syndrome: A Case Report |
| title_short | Pulmonary Alveolar Proteinosis Due to Pneumocystis carinii in Type 1 Hyper-IgM Syndrome: A Case Report |
| title_sort | pulmonary alveolar proteinosis due to pneumocystis carinii in type 1 hyper igm syndrome a case report |
| topic | pulmonary alveolar proteinosis (PAP) Pneumocystis jirovecii (P. jirovecii) hyper IgM syndrome type 1 (HIGM1) CD40 ligand (CD40LG) infant |
| url | https://www.frontiersin.org/article/10.3389/fped.2020.00264/full |
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