Analysis of five cases of monogenic lupus related to primary immunodeficiency diseases.

OBJECTIVE AND DESIGN

We studied five cases of PID-related monogenic lupus to explore the characteristics.

MATERIAL OR SUBJECTS

Among 42 cases of PID patients between 2017-2020, 5 patients were diagnosed as PID-related monogenic lupus, including 2 males and 3 females, with age range from 2 years 3 months to 13 years old.

TREATMENTS

DMARDs, biological agents and stem cell transplantation were used to treat different patients.

METHODS

We collected the clinical observation indicators, auxiliary examination and treatment of the five patients.

RESULTS

Patient 1 was diagnosed with monogenic lupus secondary to severe combined immunodeficiency and received prednisone and methotrexate treatment. Patient 2 was diagnosed with monogenic lupus secondary to activated phosphoinositide 3-kinase δ syndrome. Allogeneic stem cell transplantation was conducted. Patient 3 was diagnosed with monogenic lupus secondary to RAS-associated lymphoproliferative disease. The child was treated with prednisone and rituximab. Patient 4 was diagnosed with monogenic lupus secondary to PSTPIP1-associated myeloid-related proteinaemia inflammatory syndrome. The child was given methylprednisolone, methotrexate, and infliximab. Patient 5 was diagnosed with monogenic lupus secondary to A20 haploinsufficiency. The child was treated with methylprednisolone and infliximab.

CONCLUSIONS

Multiple PIDs can lead to monogenic lupus. Different PID-related monogenic lupus has different suitable targeted drugs.