JOURNAL ARTICLE

Clinical aspects, immunologic assessment, and genetic analysis in Taiwanese children with hemophagocytic lymphohistiocytosis

Wen-I Lee, Shih-Hsiang Chen, Iou-Jih Hung, Chao-Ping Yang, Tang-Her Jaing, Chih-Jung Chen, Shin-Pai Li, Jing-Long Huang
Pediatric Infectious Disease Journal 2009, 28 (1): 30-4
19057461

BACKGROUND: Hemophagocytic lymphohistiocytosis (HLH) is a life-threatening syndrome characterized by immune disturbance associated with certain genetic defects. This study aimed to define the clinical spectrum, immunology, and candidate genes in HLH in Taiwanese patients.

PATIENTS AND METHODS: The medical records of children who met the updated diagnostic criteria and had confirmed hemophagocytosis by bone marrow aspiration between 1992 and 2007 were retrospectively evaluated. The clinical course and prognosis were analyzed. Quantitative immunoglobulin, lymphocyte subsets, cytotoxicity to K562 cells, intracellular natural killer perforin expression, and candidate genes including SH2D1A, PFR1, Mun13-4, and STX11 genes were also investigated.

RESULTS: Thirty-two patients (16 male) were evaluated during the 15-year period. The underlying diseases were acute lymphoblastic leukemia, systemic lupus erythematosus, natural killer malignancy, juvenile idiopathic arthritis, and Chediak-Higashi syndrome. Epstein-Barr virus (EBV)-associated HLH was present in 12 patients, 6 of whom died, while 12 of 20 non-EBV-associated patients died despite aggressive polychemotherapy. Extreme immunoglobulin values occurred in 3 fatal cases. There was decreasing percentage of CD4, CD1656, and B-memory cells and increasing CD8, activated lymphocyte, and T-memory cells among the patients. Cytotoxicity in 14 patients and intracellular perforin expression in 13 were diminished but restored to borderline normal range during the convalescent stage. None of the mutations of SH2D1A, PFR1, Mun13-4, and STX11 genes were found.

CONCLUSIONS: In the treatment of Taiwanese HLH patients, aggressive chemotherapy in EBV-associated patients and stem cell transplantation in non-EBV-associated patients are recommended to improve survival. Individualized immune dysregulation instead of the well-known candidate genetic mutations can explain the genetic variation in our cohort.

Full Text Links

Find Full Text Links for this Article

Discussion

You are not logged in. Sign Up or Log In to join the discussion.

Related Papers

Remove bar
Read by QxMD icon Read
19057461
×

Save your favorite articles in one place with a free QxMD account.

×

Search Tips

Use Boolean operators: AND/OR

diabetic AND foot
diabetes OR diabetic

Exclude a word using the 'minus' sign

Virchow -triad

Use Parentheses

water AND (cup OR glass)

Add an asterisk (*) at end of a word to include word stems

Neuro* will search for Neurology, Neuroscientist, Neurological, and so on

Use quotes to search for an exact phrase

"primary prevention of cancer"
(heart or cardiac or cardio*) AND arrest -"American Heart Association"