Novel Mutation in the Moesin (MSN) Gene Leads to Immunodeficiency with Epstein-Barr Virus (EBV) Infection and Dermatomyositis-Like Symptoms.

Purpose: Moesin (MSN) deficiency is a recently reported combined immunodeficiency, and few cases have been reported to date. We describe a Chinese patient with a novel mutation causing MSN deficiency and a novel phenotype.

Methods: Clinical and immunological data were collected.

Phenotypic and Immunological Characterization of Patients with Activated PI3Kδ Syndrome 1 Presenting with Autoimmunity.

Purpose: Autoimmunity is a significant feature of APDS1 patients. We aimed to explore the pathogenic immune phenotype and possible mechanisms of autoimmunity in APDS1 patients.

Methods: The clinical records and laboratory data of 42 APDS1 patients were reviewed.

Impact of different genetic mutations on granulocyte development and G-CSF responsiveness in congenital neutropenia.

Congenital neutropenia (CN) is a genetic disorder characterized by persistent or intermittent low peripheral neutrophil counts, thus increasing susceptibility to bacterial and fungal infections. Various forms of CN, caused by distinct genetic mutations, exhibit differential responses to granulocyte colony-stimulating factor (G-CSF) therapy, with the underlying mechanisms not fully understood. This study presents an in-depth comparative analysis of clinical and immunological features in 5 CN patient groups (severe congenital neutropenia [SCN]1, SCN3, cyclic neutropenia [CyN], warts, hypogammaglobulinaemia, infections and myelokathexis [WHIM], and Shwachman-Bodian-Diamond Syndrome [SBDS]) associated with mutations in ELANE, HAX1, CXCR4, and SBDS genes.

Clinical and Genetic Characteristics of BCG Disease in Chinese Children: a Retrospective Study.

Purpose: Summarize the characteristics of a large cohort of BCG disease and compare differences in clinical characteristics and outcomes among different genotypes and between primary immunodeficiency disease (PID) and patients without identified genetic etiology.

Methods: We collected information on patients with BCG disease in our center from January 2015 to December 2020 and divided them into four groups: chronic granulomatous disease (CGD), Mendelian susceptibility to mycobacterial disease (MSMD), severe combined immunodeficiency disease (SCID), and gene negative group.

Results: A total of 134 patients were reviewed, and most of them had PID.

Increased expression of the TLR7/9 signaling pathways in chronic active EBV infection.

We aimed to investigate the immunological mechanisms of the Toll-like receptor (TLR) signaling pathways in different types of Epstein-Barr virus (EBV) infection. We retrospectively summarized the clinical data, routine laboratory tests and the immunological function of the infectious mononucleosis (IM) and chronic active EBV infection (CAEBV) patients. A real-time quantitative PCR array was used to detect the mRNA expression levels of TLR7/TLR9 and myeloid-differentiation factor 88 (MyD88).

Severe G6PD deficiency leads to recurrent infections and defects in ROS production: Case report and literature review.

Severe glucose-6-phosphate dehydrogenase (G6PD) deficiency can lead to reduced nicotinamide adenine dinucleotide phosphate oxidase activity in phagocytes, resulting in immunodeficiency, with a limited number of reported cases. Here, we aimed to report a child with severe G6PD deficiency in China and investigate the mechanism of his recurrent infections. The clinical manifestations and immunological phenotypes of this patient were retrospectively collected.

Rapid diagnosis of infection by metagenomic next-generation sequencing technology in a Chinese cohort of inborn errors of immunity.

() is an opportunistic pathogen. Patients with inborn errors of immunity (IEI) have been increasingly diagnosed with in recent years. The disseminated infection of can be life-threatening without timely and effective antifungal therapy.

Chromosomal abnormalities related to fever of unknown origin in a Chinese pediatric cohort and literature review.

Background: Fever of unknown origin (FUO) has been difficult to diagnose in pediatric clinical practice. With the gradual change in the disease spectrum, genetic factors have received increasing attention. Limited studies have shown an association between FUO and chromosomal abnormalities.

Variant Type X91 Chronic Granulomatous Disease: Clinical and Molecular Characterization in a Chinese Cohort.

Purpose: We aimed to report the clinical and immunological characteristics of variant type X91 chronic granulomatous disease (CGD) in a Chinese cohort.

Methods: The clinical manifestations and immunological phenotypes of patients with X91 CGD were collected. A dihydrorhodamine (DHR) analysis was performed to evaluate neutrophil function.

Intron retention by a novel intronic mutation in DKC1 gene caused recurrent still birth and early death in a Chinese family.

Background: DKC1, the dyskerin encoding gene, functions in telomerase activity and telomere maintenance. DKC1 mutations cause a multisystem disease, dyskeratosis congenita (DC), which is associated with immunodeficiency and bone marrow failure.

Methods: In this research, we reported a novel intronic mutation of DKC1 causing dyskerin functional loss in a Chinese family.

Efficacy of tocilizumab therapy in a patient with severe pancytopenia associated with a STAT3 gain-of-function mutation.

Background: We aimed to report the clinical characteristics, immunological features, and treatment of one patient with a de novo STAT3 gain-of-function mutation identified by next generation sequencing. We investigated the efficacy of tocilizumab therapy in immune dysregulation diseases caused by STAT3 mutation.

Results: The patient was a 16-year-old girl.

The clinical, immunological and genetic features of 12 Chinese patients with STAT3 mutations.

Background: Loss-of-function (LOF) mutations in signal transducer and activator of transcription 3 (STAT3) is one of the causes of STAT3 hyperimmunoglobulin E (IgE) syndrome (STAT3-HIES), while gain-of-function (GOF) mutations in STAT3 lead to immune dysregulation diseases. We retrospectively analyzed the age, common clinical symptoms, immunologic and molecular manifestations in 11 patients with LOF STAT3 mutations and 1 patient with a GOF STAT3 mutation.

Methods: Twelve patients were enrolled in our study.

DOCK2 couples with LEF-1 to regulate B cell metabolism and memory response.

Dedicator of cytokinesis 2 (DOCK2) is essential for the B cell differentiation, BCR signaling and humoral immune response. However, the role of DOCK2 in the memory response of B cell is unknown. By using two DOCK2 deficient patients, we found that the memory B cells were decreased and the early activation of DOCK2 deficient memory B cells was abolished to the degree of naïve B cells due to the decreased expression of CD19 and CD21 mechanistically.

LIG4 syndrome: clinical and molecular characterization in a Chinese cohort.

Background: DNA Ligase IV (LIG4) syndrome is a rare disease with few reports to date. Patients suffer from a broad spectrum of clinical features, including microcephaly, growth retardation, developmental delay, dysmorphic facial features, combined immunodeficiency, and malignancy predisposition. There may be a potential association between genotypes and phenotypes.

A dominant autoinflammatory disease caused by non-cleavable variants of RIPK1.

Activation of RIPK1 controls TNF-mediated apoptosis, necroptosis and inflammatory pathways. Cleavage of human and mouse RIPK1 after residues D324 and D325, respectively, by caspase-8 separates the RIPK1 kinase domain from the intermediate and death domains. The D325A mutation in mouse RIPK1 leads to embryonic lethality during mouse development.

Low-Dose Pioglitazone does not Increase ROS Production in Chronic Granulomatous Disease Patients with Severe Infection.

Purpose: We sought to further investigate the efficacy and safety of pioglitazone for chronic granulomatous disease (CGD) patients with severe infection.

Methods: CGD patients with severe infection were enrolled and treated with pioglitazone for 90 days. The degree of improvement in infection and the changes of dihydrorhodamine-123 (DHR) were used to evaluate the efficacy of pioglitazone.