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Interstitial pneumonia as the initial presentation in an infant with a novel mutation of CD40 ligand-associated X-linked hyper-IgM syndrome: A case report.
Medicine (Baltimore). 2020 Jun 12; 99(24):e20505.M

Abstract

INTRODUCTION

X-linked hyper-IgM syndrome is a type of primary combined immunodeficiency disorder caused by mutations in CD40 ligand. Opportunistic infections caused by P jirovecii, cytomegalovirus (CMV), or fungi are frequently the first presenting symptom of the patients with X-linked hyper-IgM syndrome.

PATIENT CONCERNS

Here, we report a 10-month-old infant who presented with cyanosis and shortness of breath. The infant exhibited no medical or birth history indicating a primary immune deficiency and was first diagnosed with interstitial pneumonia and acute respiratory failure on admission.

DIAGNOSES

The infant was diagnosed with Pneumocystis jirovecii pneumonia combined with CMV and fungal infection through gene sequencing by nasopharyngeal swab and G-test. Whole-exome sequencing from a blood sample was performed and identified a functional mutation across the CD40 ligand gene (NM_000074;exon1;C.86_87del) resulting in an amino acid change (P.T29Sfl*18) attributed to X-linked hyper IgM syndrome.

INTERVENTIONS

The infant received continuous positive airway pressure ventilation treatment combined with trimethoprim-sulfamethoxazole for Pneumocystis jirovecii pneumonia, ganciclovir for CMV, voriconazole for fungal infection and substitution of high-dose immunoglobulin.

OUTCOMES

Six months after discharge from our hospital, the infant remained well.

CONCLUSION

Opportunistic infections should be suspected in infants presenting with severe interstitial pneumonia. Primary immune deficiency diseases should also be considered in infants diagnosed with opportunistic infections.

Authors+Show Affiliations

Department of Hematology Oncology.Department of Emergency Medicine, Children's Hospital of Nanjing Medical University, Nanjing, PR China.Department of Emergency Medicine, Children's Hospital of Nanjing Medical University, Nanjing, PR China.Department of Hematology Oncology.

Pub Type(s)

Case Reports
Journal Article

Language

eng

PubMed ID

32541472

Citation

Li, Jian, et al. "Interstitial Pneumonia as the Initial Presentation in an Infant With a Novel Mutation of CD40 Ligand-associated X-linked hyper-IgM Syndrome: a Case Report." Medicine, vol. 99, no. 24, 2020, pp. e20505.
Li J, Miao H, Wu L, et al. Interstitial pneumonia as the initial presentation in an infant with a novel mutation of CD40 ligand-associated X-linked hyper-IgM syndrome: A case report. Medicine (Baltimore). 2020;99(24):e20505.
Li, J., Miao, H., Wu, L., & Fang, Y. (2020). Interstitial pneumonia as the initial presentation in an infant with a novel mutation of CD40 ligand-associated X-linked hyper-IgM syndrome: A case report. Medicine, 99(24), e20505. https://doi.org/10.1097/MD.0000000000020505
Li J, et al. Interstitial Pneumonia as the Initial Presentation in an Infant With a Novel Mutation of CD40 Ligand-associated X-linked hyper-IgM Syndrome: a Case Report. Medicine (Baltimore). 2020 Jun 12;99(24):e20505. PubMed PMID: 32541472.
* Article titles in AMA citation format should be in sentence-case
TY - JOUR T1 - Interstitial pneumonia as the initial presentation in an infant with a novel mutation of CD40 ligand-associated X-linked hyper-IgM syndrome: A case report. AU - Li,Jian, AU - Miao,Hongjun, AU - Wu,Lihui, AU - Fang,Yongjun, PY - 2020/6/17/entrez PY - 2020/6/17/pubmed PY - 2020/6/17/medline SP - e20505 EP - e20505 JF - Medicine JO - Medicine (Baltimore) VL - 99 IS - 24 N2 - INTRODUCTION: X-linked hyper-IgM syndrome is a type of primary combined immunodeficiency disorder caused by mutations in CD40 ligand. Opportunistic infections caused by P jirovecii, cytomegalovirus (CMV), or fungi are frequently the first presenting symptom of the patients with X-linked hyper-IgM syndrome. PATIENT CONCERNS: Here, we report a 10-month-old infant who presented with cyanosis and shortness of breath. The infant exhibited no medical or birth history indicating a primary immune deficiency and was first diagnosed with interstitial pneumonia and acute respiratory failure on admission. DIAGNOSES: The infant was diagnosed with Pneumocystis jirovecii pneumonia combined with CMV and fungal infection through gene sequencing by nasopharyngeal swab and G-test. Whole-exome sequencing from a blood sample was performed and identified a functional mutation across the CD40 ligand gene (NM_000074;exon1;C.86_87del) resulting in an amino acid change (P.T29Sfl*18) attributed to X-linked hyper IgM syndrome. INTERVENTIONS: The infant received continuous positive airway pressure ventilation treatment combined with trimethoprim-sulfamethoxazole for Pneumocystis jirovecii pneumonia, ganciclovir for CMV, voriconazole for fungal infection and substitution of high-dose immunoglobulin. OUTCOMES: Six months after discharge from our hospital, the infant remained well. CONCLUSION: Opportunistic infections should be suspected in infants presenting with severe interstitial pneumonia. Primary immune deficiency diseases should also be considered in infants diagnosed with opportunistic infections. SN - 1536-5964 UR - https://www.unboundmedicine.com/medline/citation/32541472/Interstitial_pneumonia_as_the_initial_presentation_in_an_infant_with_a_novel_mutation_of_CD40_ligand_associated_X_linked_hyper_IgM_syndrome:_A_case_report_ L2 - https://doi.org/10.1097/MD.0000000000020505 DB - PRIME DP - Unbound Medicine ER -