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Successful Sirolimus Treatment for Korean Patients with Activated Phosphoinositide 3-kinase δ Syndrome 1: the First Case Series in Korea

 Ji Man Kang  ;  Su Kyung Kim  ;  Dongsub Kim  ;  Sae Rom Choi  ;  Yeon Jung Lim  ;  Soon Ki Kim  ;  Byung Kiu Park  ;  Weon Seo Park  ;  Eun Suk Kang  ;  Young Hyeh Ko  ;  Yon Ho Choe  ;  Ji Won Lee  ;  Yae Jean Kim 
 YONSEI MEDICAL JOURNAL, Vol.61(6) : 542-546, 2020-06 
Journal Title
Issue Date
Adolescent ; Child, Preschool ; Class I Phosphatidylinositol 3-Kinases / immunology ; Female ; Humans ; Male ; Primary Immunodeficiency Diseases / drug therapy* ; Primary Immunodeficiency Diseases / immunology ; Primary Immunodeficiency Diseases / pathology ; Republic of Korea ; Sirolimus / therapeutic use* ; Treatment Outcome
Activated phosphoinositide 3-kinase δ syndrome (APDS)1 is caused by gain-of-function mutations in PIK3CD, which encodes the catalytic p110δ subunit of phosphoinositide 3 kinase. We describe three patients with APDS1, the first thereof in Korea. Therein, we investigated clinical manifestations of APDS1 and collected data on the efficacy and safety profile of sirolimus, a mammalian target of rapamycin inhibitor and pathway-specific targeted medicine. The same heterozygous PIK3CD mutation was detected in all three patients (E1021K). After genetic diagnosis, all patients received sirolimus and experienced an excellent response, including amelioration of lymphoproliferation and improvement of nodular mucosal lymphoid hyperplasia in the gastrointestinal tract. The median trough level of sirolimus was 5.5 ng/mL (range, 2.8-7.5) at a dose of 2.6-3.6 mg/m². Two patients who needed high-dose, short-interval, immunoglobulin-replacement treatment (IGRT) had a reduced requirement for IGRT after initiating sirolimus, and the dosing interval was extended from 2 and 3 weeks to 4 weeks. The IgG trough level after sirolimus treatment (median, 594 mg/dL; range, 332-799 mg/dL) was significantly higher than that before sirolimus treatment (median, 290 mg/dL; range, 163-346 mg/dL) (p<0.001). One episode of elevated serum creatinine with a surge of sirolimus (Patient 2) and episodes of neutropenia and oral stomatitis (Patient 1) were observed. We diagnosed the first three patients with APDS1 in Korea. Low-dose sirolimus may alleviate clinical manifestations thereof, including hypogammaglobulinemia.
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1. College of Medicine (의과대학) > Dept. of Pediatrics (소아과학교실) > 1. Journal Papers
Yonsei Authors
Kang, Ji-Man(강지만) ORCID logo https://orcid.org/0000-0002-0678-4964
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