BackgroundTalaromyces (formerly Penicillium) marneffei (T. marneffei) is an opportunistic pathogen that infects immunodeficient and immunocompromised children. The aim of the study is to determine the clinical features and peripheral immune state of Talaromyces marneffei (T. marneffei) infections in children for early detection and diagnosis.MethodsWe retrospectively reviewed 21 pediatric patients who were diagnosed with T. marneffei infections and were followed up in the Guangzhou Women and Children’s Medical Center from January 2010 to January 2020. For each patient, we collected and analyzed clinical characteristics, peripheral immunological results, genetic tests, complications and prognosis.ResultsCommon clinical features of the patients included fever (20/21, 95.24%), cough (17/21, 80.95%) and hepatomegaly (17/21, 80.95%). Severe complications included septic shock (12/21, 57.14%), hemophagocytic lymphohistiocytosis (HLH) (11/21, 52.38%), acute respiratory distress syndrome (ARDS) (10/21, 47.62%), multiple organ dysfunction syndrome (MODS) (9/21, 42.86%), and disseminated intravascular coagulation (DIC) (7/21, 33.33%). Eleven children (11/21, 52.38%) eventually died of T. marneffei infections. All patients were HIV negative. Seven cases revealed reduced antibody levels, especially IgG. Higher levels of IgE were detected in 9 cases with an obvious increase in two patients. Ten patients showed decreased complement C3 levels, some of whom had low C4 levels. Three patients displayed decreased absolute T lymphocyte counts, including the CD 4+ and CD 8+ subsets. A reduction in NK cells was present in most patients. No patient had positive nitro blue tetrazolium (NBT) test results. Nine patients were assessed using gene tests. Of the cases, one case had no disease-specific gene mutation. Four children had confirmed hyperimmunoglobulin M syndrome (HIGM) with CD40LG variation, one case had severe combined immunodeficiency (SCID), and one case had hyper-IgE syndrome (HIES). One patient was identified as having a heterozygous mutation in STAT3 gene; however, he showed no typical clinical manifestations of HIES at his age. One patient had a mutated COPA gene with uncertain pathogenic potential. Another patient was diagnosed with HIES that depended on her clinical features and the National Institutes of Health (NIH) scoring system.ConclusionT. marneffei infections in HIV-negative children induced severe systemic complications and poor prognosis. Children with T. marneffei infections commonly exhibited abnormal immunoglobulin levels in peripheral blood, particularly decreased IgG or increased IgE levels, further suggesting possible underlying PIDs in these patients.
The relationship between the expression of the SATB2, CDX2, and p53 proteins and common molecular changes in colorectal cancer (CRC) has rarely been studied. Recent literature suggests that the loss of SATB2 and CDX2 expression is more frequently observed in cases of colon cancer with DNA mismatch repair (MMR) protein de ciency and BRAF mutation. We collected 1180 cases of CRC and explored the association between the expression of SATB2, CDX2, and p53 and clinicopathological characteristics and molecular alterations of CRC using whole-slide immunohistochemistry. Our results showed that negative expression of SATB2 and CDX2 was more common in MMR-protein-de cient CRC than in MMR-protein-pro cient CRC (15.8% vs. 6.0%, P = 0.001; 14.5% vs. 4.0%, P = 0.000, respectively). Negative expression of SATB2 and CDX2 was more common in BRAF-mutant CRC than in BRAF wild-type CRC (17.2% vs. 6.1%, P = 0.003; 13.8% vs. 4. 2%; P = 0.004, respectively). There was no relationship between SATB2 and/or CDX2 negative expression and KRAS, NRAS, and PIK3CA mutations. The expression of p53 was not associated with MMR protein status or BRAF, KRAS, NRAS and PIK3CA mutations. In addition, the lack of expression of SATB2, CDX2, and p53 was associated with poor histopathological features of CRC. In conclusion, the lack of SATB2 and CDX2 expression in CRC was associated with MMR protein de ciency and BRAF mutation, but not with KRAS, NRAS and PIK3CA mutation. The expression of p53 protein was not related to the common molecular changes of CRC.
Background: X-linked hyper-immunoglobulin M (XHIGM), a primary immunodeficiency syndrome caused by mutations in the CD40 ligand gene, presents with recurrent respiratory infections in pediatric patients. We aimed to evaluate the spectrum of clinical features and respiratory pathogens in pediatric patients with XHIGM in China. Methods: We retrospectively reviewed seven pediatric patients who were diagnosed with XHIGM and received follow-up treatment at the Guangzhou Women and Children’s Medical Center between January 2010 and January 2021. We determined their clinical characteristics, causative pathogens, and prognosis by performing peripheral immunological and genetic tests. Results: The majority of respiratory infections in four of the seven patients were caused by Talaromyces marneffei. Two patients had viral infections caused by cytomegalovirus (CMV) and human adenovirus. One patient had a mixed infection caused by Pneumocystis carinii and CMV. Except for one child who died of respiratory failure, the other six patients survived with regular infusions of intravenous immunoglobulin (IVIg) during the follow-up period. Six patients had reduced antibody levels, especially IgG, IgA, and IgE levels. Increased serum IgM levels were detected in four cases, and three cases presented normal IgM levels at onset. All children were diagnosed with XHIGM with CD40LG variation. Three novel mutations were identified in the present study. Conclusions: Our study suggests that fungi and viruses are important pathogens causing respiratory infections in children with XHIGM. In endemic areas, children with T. marneffei infections have abnormal Ig levels in their peripheral blood, suggesting the ease of early gene detection in these patients.
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