Background and Aims

Background: Wiskott-Aldrich syndrome (WAS) is an X-linked combined immunodeficiency characterized by a triad of thrombocytopenia, eczema, and immunodeficiency. Patients with WAS are not only prone to recurrent infections but are at risk of developing autoimmunity and malignancy.

AIM: To compare Helper T1 (Th1)/Th2 axis, Regulatory T (Treg)/Th17 axis, and Follicular helper T (Tfh) cells in patients with or without autoimmunity and controls.

Methods

Case records of 8 children with WAS, who were been followed up in Pediatric Immunodeficiency Clinic of Advanced Pediatrics Centre, PGIMER, Chandigarh, India were reviewed. After genetic confirmation, T cell subsets were estimated flowcytometric in these patients along with age/sex match healthy controls. One-way ANOVA test was applied (p-value<0.1 was considered significant).

Results

Out of a cohort of 50 patients, 8 patients were enrolled in the study. Among 8, 4 patients developed autoimmune manifestations and 4 were without autoimmunity. In the autoimmune group, 2 patients had autoimmune hemolytic anemia (AIHA), out of which 1 was positive for Direct Coombs test. One patient had leukocytoclastic vasculitis and 1 had Guillain-Barre syndrome-like disease. Th1/Th2 axis was out of proportion in all 8 patients. Th2 cells were increased as compared to controls and patients without autoimmunity (p<0.1). Treg cells in patients with autoimmunity were increased as compared to controls and patients without autoimmunity (p=). Tfh were significantly reduced in patients with autoimmunity than in controls and patients without autoimmunity (p<0.01).

Conclusions

Severely affected Th1/Th2 axis along with reduced Tfh cells may result in susceptibility towards autoimmunity.