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X-Linked Hyper IgM Syndrome Manifesting as Recurrent Pneumocystis jirovecii Pneumonia: A Case Report.
J Trop Pediatr. 2020 May 10 [Online ahead of print]JT

Abstract

We reported a Chinese boy with X-linked hyper IgM (XHIGM) syndrome, manifesting as recurrent and severe pneumonia caused by Pneumocystis jirovecii. His parents were healthy and unrelated. In August 2018, the 5-month-old boy manifested as cough and dyspnea, and then in July 2019, he was admitted because of the same symptoms. Immunological results of the two admissions both showed low IgG, low IgA, normal IgM and high levels of 1,3-β-D-glucan (BDG). Using next-generation sequencing (NGS), great reading counts of P. jirovecii were identified from the deep sputum in both admissions. Caspofungin combined with trimethoprim-sulfamethoxazole were used to anti-infection, and he recovered quickly. Whole-exome sequencing was performed for this family because of immune suppression, the disease-causing gene (exon 10-22 of CD40L) deletion for XHIGM syndrome was identified. NGS is beneficial for etiology diagnosis. Pneumocystis jirovecii pneumonia as an opportunistic infection could be recurrent in patients with XHIGM syndrome.

Authors+Show Affiliations

Pediatric Intensive Care Unit, Soochow University Affiliated Children's Hospital, Suzhou, Jiangsu, CN 215003, China.Pediatric Intensive Care Unit, Soochow University Affiliated Children's Hospital, Suzhou, Jiangsu, CN 215003, China.Pediatric Intensive Care Unit, Soochow University Affiliated Children's Hospital, Suzhou, Jiangsu, CN 215003, China.Pediatric Intensive Care Unit, Soochow University Affiliated Children's Hospital, Suzhou, Jiangsu, CN 215003, China.Pediatric Intensive Care Unit, Soochow University Affiliated Children's Hospital, Suzhou, Jiangsu, CN 215003, China.

Pub Type(s)

Journal Article

Language

eng

PubMed ID

32388558

Citation

Huang, Sai Hu, et al. "X-Linked Hyper IgM Syndrome Manifesting as Recurrent Pneumocystis Jirovecii Pneumonia: a Case Report." Journal of Tropical Pediatrics, 2020.
Huang SH, Meng XY, Bai ZJ, et al. X-Linked Hyper IgM Syndrome Manifesting as Recurrent Pneumocystis jirovecii Pneumonia: A Case Report. J Trop Pediatr. 2020.
Huang, S. H., Meng, X. Y., Bai, Z. J., Li, Y., & Wu, S. Y. (2020). X-Linked Hyper IgM Syndrome Manifesting as Recurrent Pneumocystis jirovecii Pneumonia: A Case Report. Journal of Tropical Pediatrics. https://doi.org/10.1093/tropej/fmaa023
Huang SH, et al. X-Linked Hyper IgM Syndrome Manifesting as Recurrent Pneumocystis Jirovecii Pneumonia: a Case Report. J Trop Pediatr. 2020 May 10; PubMed PMID: 32388558.
* Article titles in AMA citation format should be in sentence-case
TY - JOUR T1 - X-Linked Hyper IgM Syndrome Manifesting as Recurrent Pneumocystis jirovecii Pneumonia: A Case Report. AU - Huang,Sai Hu, AU - Meng,Xiang Ying, AU - Bai,Zhen Jiang, AU - Li,Ying, AU - Wu,Shui Yan, Y1 - 2020/05/10/ PY - 2020/5/11/entrez PY - 2020/5/11/pubmed PY - 2020/5/11/medline KW - Pneumocystis jirovecii pneumonia KW - X-linked hyper IgM syndrome KW - next-generation sequencing JF - Journal of tropical pediatrics JO - J. Trop. Pediatr. N2 - We reported a Chinese boy with X-linked hyper IgM (XHIGM) syndrome, manifesting as recurrent and severe pneumonia caused by Pneumocystis jirovecii. His parents were healthy and unrelated. In August 2018, the 5-month-old boy manifested as cough and dyspnea, and then in July 2019, he was admitted because of the same symptoms. Immunological results of the two admissions both showed low IgG, low IgA, normal IgM and high levels of 1,3-β-D-glucan (BDG). Using next-generation sequencing (NGS), great reading counts of P. jirovecii were identified from the deep sputum in both admissions. Caspofungin combined with trimethoprim-sulfamethoxazole were used to anti-infection, and he recovered quickly. Whole-exome sequencing was performed for this family because of immune suppression, the disease-causing gene (exon 10-22 of CD40L) deletion for XHIGM syndrome was identified. NGS is beneficial for etiology diagnosis. Pneumocystis jirovecii pneumonia as an opportunistic infection could be recurrent in patients with XHIGM syndrome. SN - 1465-3664 UR - https://www.unboundmedicine.com/medline/citation/32388558/X_Linked_Hyper_IgM_Syndrome_Manifesting_as_Recurrent_Pneumocystis_jirovecii_Pneumonia:_A_Case_Report_ L2 - https://academic.oup.com/tropej/article-lookup/doi/10.1093/tropej/fmaa023 DB - PRIME DP - Unbound Medicine ER -
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