PIK3CD mutation

This study shows a rare case of a patient meeting the definition of CAEBV B-cell disease in East Asia. Meanwhile, the case indicates that the missense mutation and the disease are related.

No abstract available

Regarding treatment, all the patients received intravenous immunoglobulin (IVIG), 50% were treated with everolimus and only one patient received hematopoietic stem cell transplantation...Although genetic testing was done on all the patients, it was supported by international collaboration. Therefore, further studies are needed to evaluate the diagnosis and management impact on patients with APDS in our setting.

Whole exome sequencing revealed c.1245G > A P.W415 homozygous mutation in SLC37A4 gene and c.580G > A p.V1941 heterozygous mutation in PIK3CD gene. This study shows that manifestations of GSD1b may not be limited to what was previously known and it should be considered in a wider range of patients.

No abstract available

Overall, the poor outcome, low genomic instability, upregulation of immune pathways and downregulation of EBV miRNAs are distinctive features of PTCL-EBV. Our data support the consideration of PTCL-EBV as a distinct entity, provide novel insights into the disease pathogenesis and offer potential new therapeutic targets for this tumor.

Targeted treatment using sirolimus was initiated, which helped control her symptoms. APDS may present with childhood onset of recurrent sinopulmonary infections and lymphoproliferation, which may lead to end organ damage and lymphoma. Prompt genetic screening followed by targeted treatment helps improve outcome and prevent complications.

This is the first cohort comparing clinical manifestations in PIK3CD and PIK3R1 patients from the USIDNET Registry. Similar frequencies of respiratory and herpesvirus infections, lymphadenopathy, and developmental delay were observed compared to prior cohort studies. However, a higher frequency of asthma and CD3 lymphopenia in the PIK3CD cohort compared to the PIK3R1 cohort was observed.

Massive lymphoproliferation, bronchiectasis, increased susceptibility to bacterial and viral infections and, at a lesser extent, auto-immune manifestations and occurrence of cancer, especially B cell lymphoma, have been described for both types of APDS patients. Here, we review clinical presentation and treatment options as well as fundamental immunological and biological features associated to PI3K-δ increased signaling.

Patients with STAT3 mutation, inclusive of those with TET2 co-mutation, had lower hematocrit (HCT), hemoglobin (HGB), and absolute neutrophil count (ANC) compared to STAT3 wild-type patients (Welch's t-test, p<=0.015). We present the discovery of TET2 mutations in chronic NK-LGL leukemia and evidence that it identifies a unique molecular subtype.