Hemophagocytic Lymphohistiocytosis in Patients With Primary Immunodeficiency

Cetinkaya P. G., ÇAĞDAŞ AYVAZ D. N., GÜMRÜK F., Tezcan I.

JOURNAL OF PEDIATRIC HEMATOLOGY ONCOLOGY, vol.42, no.6, 2020 (SCI-Expanded) identifier identifier identifier

  • Publication Type: Article / Article
  • Volume: 42 Issue: 6
  • Publication Date: 2020
  • Doi Number: 10.1097/mph.0000000000001803
  • Journal Indexes: Science Citation Index Expanded (SCI-EXPANDED), Scopus, CAB Abstracts, EMBASE, MEDLINE
  • Keywords: central nervous system involvement, hemophagocytic lymphohistiocytosis, hematopoietic stem cell transplantation, intrathecal treatment, primary immunodeficiency, PROGNOSTIC-FACTORS, GRISCELLI-SYNDROME, SERUM-ALBUMIN, RISK-FACTORS, EARLY DEATH, CHILDREN, DIAGNOSIS, OUTCOMES, SPECTRUM, SERIES
  • Hacettepe University Affiliated: Yes


Hemophagocytic lymphohistiocytosis (HLH) is characterized by uncontrolled and excessive immune responses with high mortality. We aimed to define mortality-related parameters in HLH secondary to primary immunodeficiency (PID). A total of 28 patients with HLH between the years 2013 and 2017 were enrolled in the study. The patients were evaluated in 2 groups including PID with hypopigmentation (n=7) (Chediak-Higashi syndrome [CHS] and Griscelli syndrome type 2 [GS2]) and other PIDs (n=21). The median age of the study population was 23 (4.3 to 117.0) months at the time of the diagnosis of HLH. Central nervous system involvement was recorded in 7 (GS2/CHS patients [n=4], other PIDs [n=3], P=0.026), and death was observed in 9 patients (GS2/CHS patients [n=1], other PIDs [n=8], P=0.371). Five patients (3 GS2/CHS and 2 other PID patients) underwent hematopoietic stem cell transplantation. Low serum albumin level was the only variable associated with the mortality and albumin levels less than the cut-off value of 3.07g/dL increased mortality 5.8 times in patients with HLH secondary to PID. We presented a single-center experience consisting of patients with HLH secondary to PID with a mortality rate of 32.1%. Hypoalbuminemia was the only risk factor to increase the overall mortality rate of HLH.