Related Experiment Video
Updated: Dec 21, 2025
Author Spotlight: Advancing Pathogen Detection and Disease Assessment in Real-Time Using M-ROSE
Published on: March 1, 2024
X-Linked Hyper IgM Syndrome Manifesting as Recurrent Pneumocystis jirovecii Pneumonia: A Case Report
Sai Hu Huang1, Xiang Ying Meng1, Zhen Jiang Bai1
1Pediatric Intensive Care Unit, Soochow University Affiliated Children's Hospital, Suzhou, Jiangsu, CN 215003, China.
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.
Insights
X-linked hyper IgM syndrome (XHIGM) can cause severe Pneumocystis jirovecii pneumonia in children. Early diagnosis using next-generation sequencing is crucial for effective treatment and improved outcomes.
Area of Science:
- Immunology
- Genetics
- Infectious Diseases
Background:
- X-linked hyper IgM (XHIGM) syndrome is a primary immunodeficiency characterized by defects in immunoglobulin class switching.
- Patients with XHIGM are susceptible to opportunistic infections, including Pneumocystis jirovecii pneumonia (PJP).
Observation:
- A 5-month-old Chinese boy presented with recurrent severe pneumonia caused by Pneumocystis jirovecii.
- Immunological workup revealed low IgG, low IgA, normal IgM, and elevated 1,3-β-D-glucan (BDG) levels.
- Next-generation sequencing (NGS) detected high P. jirovecii loads in sputum samples.
Findings:
- Whole-exome sequencing identified a deletion in the CD40L gene (exons 10-22), confirming the diagnosis of XHIGM syndrome.
- The patient showed rapid clinical improvement with combined caspofungin and trimethoprim-sulfamethoxazole therapy.
Implications:
- NGS is a valuable tool for the etiological diagnosis of primary immunodeficiencies.
- Recurrent PJP can be a significant manifestation of XHIGM syndrome, highlighting the need for timely diagnosis and management.
- Understanding the genetic basis of XHIGM syndrome aids in predicting and preventing opportunistic infections.
Related Concept Videos
01:29Pneumonia II: Pathophysiology
01:30Pneumonia I: Introduction
Risk Factors
Various factors influence the likelihood of developing pneumonia. Age plays a crucial role, with infants, children under two, and individuals over 65 at increased risk due to their...
01:29Pulmonary Tuberculosis I
Causative Organism
The primary infectious agent causing tuberculosis is Mycobacterium tuberculosis, a slow-growing, acid-fast, aerobic rod that exhibits sensitivity to heat and ultraviolet light. Instances of Mycobacterium bovis and Mycobacterium avium contributing to the development of TB infection are rare.
Mode of...
01:25Immunodeficiency Diseases
There are three main causes of immunodeficiency...
01:30Pneumonia III: Complications and Assessment
01:31Pulmonary Tuberculosis III
The first classification is based on the development of the disease, and it includes the following categories: