CD40LG-associated X-linked Hyper-IgM Syndrome (XHIGM) with pulmonary alveolar proteinosis: a case report
Abstract Background D40LG-associated X-linked hyper-IgM syndrome with pulmonary alveolar proteinosis has rarely been reported, and its genotype-phenotypic correlation remains elusive. Case presentation We describe a five-month-old boy with CD40LG mutation (c.516T > A, p.Tyr172Ter) X-linked hyper-...
| Main Authors: | , , , , , |
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| Format: | Article |
| Language: | English |
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BMC
2023-05-01
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| Series: | BMC Pediatrics |
| Subjects: | |
| Online Access: | https://doi.org/10.1186/s12887-023-04054-6 |
| _version_ | 1797827339976966144 |
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| author | Hong-bo Xu Mao-qiang Tian Yong-hua Bai Xiao Ran Lei Li Yan Chen |
| author_facet | Hong-bo Xu Mao-qiang Tian Yong-hua Bai Xiao Ran Lei Li Yan Chen |
| author_sort | Hong-bo Xu |
| collection | DOAJ |
| description | Abstract Background D40LG-associated X-linked hyper-IgM syndrome with pulmonary alveolar proteinosis has rarely been reported, and its genotype-phenotypic correlation remains elusive. Case presentation We describe a five-month-old boy with CD40LG mutation (c.516T > A, p.Tyr172Ter) X-linked hyper-IgM syndrome with pulmonary alveolar proteinosis as the first manifestation. The patient completely recovered after immunotherapy and allogeneic hematopoietic stem cell transplantation. In addition, four previously reported patients with CD40LG mutation with pulmonary alveolar proteinosis were also analyzed. All of these patients presented with early onset of pulmonary infections and a good response to immunotherapy. The structural model of CD40LG indicated that all mutations caused the X-linked hyper-IgM syndrome with pulmonary alveolar proteinosis to be located within the tumor necrosis factor homology domain. Conclusions A case was presented, and the characteristics of four cases of CD40LG-associated X-linked hyper-IgM syndrome with pulmonary alveolar proteinosis were summarized. The variant locations may explain the phenotypic heterogeneity of patients with the CD40LG mutation. |
| first_indexed | 2024-04-09T12:47:40Z |
| format | Article |
| id | doaj.art-c1fbe9f4abc24409b41f021544025303 |
| institution | Directory Open Access Journal |
| issn | 1471-2431 |
| language | English |
| last_indexed | 2024-04-09T12:47:40Z |
| publishDate | 2023-05-01 |
| publisher | BMC |
| record_format | Article |
| series | BMC Pediatrics |
| spelling | doaj.art-c1fbe9f4abc24409b41f0215440253032023-05-14T11:27:59ZengBMCBMC Pediatrics1471-24312023-05-012311610.1186/s12887-023-04054-6CD40LG-associated X-linked Hyper-IgM Syndrome (XHIGM) with pulmonary alveolar proteinosis: a case reportHong-bo Xu0Mao-qiang Tian1Yong-hua Bai2Xiao Ran3Lei Li4Yan Chen5Department of Pediatrics, Affiliated Hospital of Zunyi Medical UniversityDepartment of Pediatrics, Affiliated Hospital of Zunyi Medical UniversityDepartment of pathology, Affiliated Hospital of Zunyi Medical UniversityDepartment of Pediatrics, Affiliated Hospital of Zunyi Medical UniversityDepartment of Pediatrics, Affiliated Hospital of Zunyi Medical UniversityDepartment of Pediatrics, Affiliated Hospital of Zunyi Medical UniversityAbstract Background D40LG-associated X-linked hyper-IgM syndrome with pulmonary alveolar proteinosis has rarely been reported, and its genotype-phenotypic correlation remains elusive. Case presentation We describe a five-month-old boy with CD40LG mutation (c.516T > A, p.Tyr172Ter) X-linked hyper-IgM syndrome with pulmonary alveolar proteinosis as the first manifestation. The patient completely recovered after immunotherapy and allogeneic hematopoietic stem cell transplantation. In addition, four previously reported patients with CD40LG mutation with pulmonary alveolar proteinosis were also analyzed. All of these patients presented with early onset of pulmonary infections and a good response to immunotherapy. The structural model of CD40LG indicated that all mutations caused the X-linked hyper-IgM syndrome with pulmonary alveolar proteinosis to be located within the tumor necrosis factor homology domain. Conclusions A case was presented, and the characteristics of four cases of CD40LG-associated X-linked hyper-IgM syndrome with pulmonary alveolar proteinosis were summarized. The variant locations may explain the phenotypic heterogeneity of patients with the CD40LG mutation.https://doi.org/10.1186/s12887-023-04054-6CD40LG geneX-linked hyper-IgM syndromePulmonary alveolar proteinosisPediatricsCase report |
| spellingShingle | Hong-bo Xu Mao-qiang Tian Yong-hua Bai Xiao Ran Lei Li Yan Chen CD40LG-associated X-linked Hyper-IgM Syndrome (XHIGM) with pulmonary alveolar proteinosis: a case report BMC Pediatrics CD40LG gene X-linked hyper-IgM syndrome Pulmonary alveolar proteinosis Pediatrics Case report |
| title | CD40LG-associated X-linked Hyper-IgM Syndrome (XHIGM) with pulmonary alveolar proteinosis: a case report |
| title_full | CD40LG-associated X-linked Hyper-IgM Syndrome (XHIGM) with pulmonary alveolar proteinosis: a case report |
| title_fullStr | CD40LG-associated X-linked Hyper-IgM Syndrome (XHIGM) with pulmonary alveolar proteinosis: a case report |
| title_full_unstemmed | CD40LG-associated X-linked Hyper-IgM Syndrome (XHIGM) with pulmonary alveolar proteinosis: a case report |
| title_short | CD40LG-associated X-linked Hyper-IgM Syndrome (XHIGM) with pulmonary alveolar proteinosis: a case report |
| title_sort | cd40lg associated x linked hyper igm syndrome xhigm with pulmonary alveolar proteinosis a case report |
| topic | CD40LG gene X-linked hyper-IgM syndrome Pulmonary alveolar proteinosis Pediatrics Case report |
| url | https://doi.org/10.1186/s12887-023-04054-6 |
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