Patients with primary immunodeficiency (PID) who had low serum albumin levels had a higher mortality rate when experiencing hemophagocytic lymphohistiocytosis (HLH), according to study results presented in the Journal of Pediatric Hematology/Oncology.

A team of investigators conducted a single-center analysis to characterize congenital PID diseases that were associated with HLH. The researchers also aimed to assess clinical and laboratory characteristics in this patient population to determine potential medical approaches. “HLH may be the one of the first manifestations of patients with PID,” they explained in their report.

Laboratory parameters and clinical features were evaluated in 28 patients (20 men) who had HLH secondary to PID. Patients were stratified according to type of PID. Seven patients with either Chédiak-Higashi syndrome (CHS) or Griscelli syndrome 2 (GS2) were grouped together, while 21 patients with other types of PID comprised a separate group.

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Almost all patients had cytopenias in at least 2 hematological cell series (96.4%). In addition, hypertriglyceridemia, hypofibrinogenemia, and hyperferritinemia were reported in 82.1%, 60.7%, and 85.7% of patients, respectively. The mortality rate in this population was 32.1%, with 1 death in the CHS/GS2 group and 8 deaths among patients with other PIDs; however, this difference in mortality between groups was not statistically significant (P =.371).

Patients had a median age of onset of HLH symptoms of 23.0 months and all patients had hemophagocytosis in the bone marrow.

Compared with patients in the other PID diagnosis group, patients in the CHS/GS2 group had a significantly earlier age of onset of HLH-related symptoms (P =.038), a higher rate of central nervous system involvement (P =.026), and significantly lower levels of aspartate aminotransferase (P =.017), direct bilirubin (P =.031), and gamma-glutamate transferase (P =.011). Hematopoietic stem cell transplantation was more common among patients with CHS/GS2 than in patients with other PIDs (5 patients vs 2 patients, respectively).

A multivariate analysis was performed using factors suggesting a possible relationship to mortality with HLH based on a univariate analysis. In the multivariate analysis, a serum albumin level that was below 3.07 g/dL appeared to be the sole factor that had a significant association with mortality during HLH (hazard ratio, 5.855; P =.028).

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In a receiver operating characteristic curve analysis, the threshold of 3.07 g/dL for serum albumin showed an 88.9% sensitivity and a 73.7% specificity, with an area under the curve value of 0.810 (P =.009),

The study investigators wrote that HLH was associated with a high level of mortality in patients with PID. “Serum albumin level seems to be an important parameter that may be added to the criteria for the prognosis of HLH,” concluded the investigators.


Cetinkaya PG, Ayvaz D, Gumruk F, Tezcan I. Hemophagocytic lymphohistiocytosis in patients with primary immunodeficiency [published online April 21, 2020]. J Pediatr Hematol Oncol. doi: 10.1097/MPH.0000000000001803