Cytopenias

Hi everyone!

In our hematology department, we have a 3yo male with a recent history of multiple infections, anemia, thrombocytopenia, splenomegaly, lymphadenopathy, and CD4 lymphopenia. He also has a history of CMV positivity and elevated IgG levels. PID NGS panel found a pathogenic GOF mutation in the PIK3CD gene, c.3061G>A, p.Glu1021Lys. This is a mutation that has been reported in several individuals with PI3Kδ syndrome.

In view of cytopenias and organomegaly, we intend to start treatment shortly. Last year during one of our monthly conferences we discuss the use of Idelalisib as an alternative to Sirolimus. The clinical trial does not appear to include children <12 years of age. We are currently thinking of initiating sirolimus but wanted to see if there are any other alternatives.

One of my colleagues have sent it to the CIS listserv so I will update y'all if we get any additional ideas.

Rohith

Welcome to the NICER Cytopenia Forum! As cytopenias are becoming increasingly recognized feature of inborn errors of immunity, this group list (exclusive to NICER members only!) is designed to facilitate real-time connections between hematologists and clinical immunologists to enhance the recognition/diagnosis of IEI, brainstorm opportunities for optimized patient-specific management, and provide a nidus for disease characterization through robust clinical annotation and bench analysis. Patient-specific queries are welcome, but kindly remember to remove all PHI prior to posting.