Expansion of CXCR5+/CD45RA- CD4+ T cells (X5-Th cells) was a prominent feature in PAD, particularly in TACI mutants, and patients with expansion in CD21-lo B cells or transitional B cells were readily apparent. In PAD, loss of switched memory B cells (B-SM) was readily demonstrated, but as a continuous, not dichotomous, variable. To illustrate this method, we analyzed patients with Primary Antibody Deficiency (PAD) and kindreds harboring mutations in TNFRSF13B (encoding TACI), CTLA4, and CARD11. We developed an algorithm where centiles were allocated using non-parametric comparison to controls, generating multiparameter heat maps to simultaneously represent all leukocyte subpopulations for inspection of trends within a cohort or segregation with a putative genetic mutation. Discerning changes in multiple subpopulations is challenging, and subtle trends might be missed if traditional reference ranges derived from a control population are applied. Genetic primary immunodeficiency diseases are increasingly recognized, with pathogenic mutations changing the composition of circulating leukocyte subsets measured by flow cytometry (FCM). 5Department of Hematology, The Canberra Hospital, Canberra, ACT, Australia.4Department of Immunology, The Canberra Hospital, Canberra, ACT, Australia.3Department of Nephrology, The Canberra Hospital, Canberra, ACT, Australia.
2Centre for Personalised Immunology, John Curtin School of Medical Research, Australian National University, Canberra, ACT, Australia.1Department of Immunology and Infectious Diseases, Australian National University, Canberra, ACT, Australia.Jiang 1,2,3, Amelia Cook 1,2, Rochna Chand 1,2,4, Dipti Talaulikar 5, Ann-Maree Hatch 2, Anastasia Wilson 2, Carola G. Ellyard 1,2, Robert Tunningley 1,2, Ayla May Lorenzo 1,2, Simon H.
0 kommentar(er)
