Hemophagocytic Lymphohistiocytosis in Patients With Primary Immunodeficiency

J Pediatr Hematol Oncol. 2020 Aug;42(6):e434-e439. doi: 10.1097/MPH.0000000000001803.


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) (Chédiak-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 3.07 g/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.

MeSH terms

  • Chediak-Higashi Syndrome / complications
  • Chediak-Higashi Syndrome / mortality*
  • Child
  • Child, Preschool
  • Female
  • Follow-Up Studies
  • Hematopoietic Stem Cell Transplantation / mortality*
  • Humans
  • Infant
  • Lymphohistiocytosis, Hemophagocytic / complications
  • Lymphohistiocytosis, Hemophagocytic / etiology
  • Lymphohistiocytosis, Hemophagocytic / mortality*
  • Lymphohistiocytosis, Hemophagocytic / pathology
  • Lymphohistiocytosis, Hemophagocytic / therapy
  • Male
  • Piebaldism / complications
  • Piebaldism / mortality*
  • Primary Immunodeficiency Diseases / complications
  • Primary Immunodeficiency Diseases / mortality*
  • Prognosis
  • Risk Factors
  • Survival Rate

Supplementary concepts

  • Griscelli syndrome type 2