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.
Mutations in the recombination-activating gene 1, a pivotal component essential for V(D)J recombination and the formation of T- and B-cell receptors, can result in autoimmune hemolytic anemia, a rare hematological condition characterized by the autoantibody-mediated destruction of red blood cells. Herein, we report the case of a 1-year-and-4-month-old girl who presented with progressively aggravated anemia, fever, and cough. Autoimmune hemolytic anemia was confirmed by bone marrow aspiration and Coombs test.
Purpose: To examine the clinical utility of metagenomic next-generation sequencing (mNGS) in individuals with early pulmonary infection following liver transplantation.
Patients And Methods: mNGS and traditional detection results were retrospectively collected from 99 patients with pulmonary infection within one week following liver transplantation. These patients were admitted to the Department of Critical Liver Diseases at Beijing Friendship Hospital from February 2022 to February 2024, along with their general clinical data.
The risk of cytokine release syndrome (CRS) in patients with infections prior to chimeric antigen receptor T-cell (CAR T-cell) therapy represents an important and underreported event. Patients with active infections needing prompt CAR T-cell therapy to treat aggressive hematologic malignancies remain a clinical challenge. This case describes the clinical course of a 35-year-old male patient with relapsed/refractory T-cell/histiocyte-rich large B-cell lymphoma who received axicabtagene ciloleucel.
Sulfamethoxazole/trimethoprim (SMX/TMP) is a commonly used antimicrobial agent for treating common bacterial infections such as urinary tract infection (UTI), combined with doxycycline for community-acquired methicillin-resistant (MRSA), and invaluable in pneumonia (PJP), previously classified as . Of its known adverse reactions, hepatotoxicity rarely comes to mind, but indeed, it is a recognized but very rare adverse reaction that may lead to liver failure in adults and even rarer in children. We present a case of hepatotoxicity in a 43-year-old male patient on no prior medication who developed jaundice and highly elevated liver enzymes one week after the administration of Bactrim for the treatment of UTI in association with prostatism, symptoms of decreased urinary force due to obstruction of flow through the prostate gland.
Purpose: pneumonia (PJP) shows a high fatality rate in non-HIV patients. However, there are limited data on drug resistance-related gene mutations in these patients. This study aimed to describe the prevalence of mutations in the dihydrofolate reductase (DHFR) and dihydropteroate synthase (DHPS) genes of in non-HIV patients in China, providing a reference for drug usage.
