Dataset Information

Familial immune-mediated aplastic anaemia in six different families.

ABSTRACT: We studied the pathophysiology of aplastic anaemia (AA) in six different pairs of relatives without a family history of hematologic disorders or congenital AA. Five and four of the six pairs shared the HLA-DRB1*15:01 and B*40:02 alleles, respectively. Glycosylphosphatidylinositol-anchored protein-deficient blood cells were detected in eight of the 10 patients evaluated. In a mother-daughter pair from one family, flow cytometry detected leukocytes lacking HLA-A2 due to loss of heterogeneity in chromosome 6p. Whole-exome sequencing of the family pair revealed a missense mutation in MYSM1. These results suggest that genetic inheritance of immune traits might underlie familial AA in some patients.

SUBMITTER: Imi T

PROVIDER: S-EPMC10435714 | biostudies-literature | 2023 Aug

REPOSITORIES: biostudies-literature

ACCESS DATA

Publications

Familial immune-mediated aplastic anaemia in six different families.

Imi Tatsuya T Mizumaki Hiroki H Hosomichi Kazuyoshi K Nannya Yasuhito Y Zaimoku Yoshitaka Y Yoroidaka Takeshi T Katagiri Takamasa T Ishiyama Ken K Yamazaki Hirohito H Ogawa Ryosuke R Kuroiwa Mika M Tajima Atsushi A Ogawa Seishi S Nakao Shinji S

EJHaem 20230628 3

We studied the pathophysiology of aplastic anaemia (AA) in six different pairs of relatives without a family history of hematologic disorders or congenital AA. Five and four of the six pairs shared the <i>HLA-DRB1*15:01</i> and <i>B*40:02</i> alleles, respectively. Glycosylphosphatidylinositol-anchored protein-deficient blood cells were detected in eight of the 10 patients evaluated. In a mother-daughter pair from one family, flow cytometry detected leukocytes lacking HLA-A2 due to loss of heter ...[more]

PMID: 37601868

Similar Datasets

Project description:Introduction: Impressive advances in immunotherapy especially immune checkpoint inhibitors have made great progress in treating multiple cancers but can also cause serious even incurable immune-related adverse events, mostly found in colitis, dermatitis, hepatitis, and thyroiditis patients. Rare autoimmune hematologic toxicities have been reported in the literature, but are poorly described. Aplastic anaemia induced by immune checkpoint inhibitors is a life-threatening autoimmune disease; however, only a few cases have been reported in the literature. Objective: To characterize and evaluate Aplastic anaemia associated with different ICI regimens in public database and review the literature. Methods: We described a case series of patients experiencing Aplastic anaemia while on immune checkpoint inhibitors. We also mined the Food and Drug Administration's Adverse Event Reporting System and used reporting odds ratio, the proportional reporting ratio, the Bayesian confidence propagation neural network and the multi-item gamma Poisson shrinker algorithms to achieve the data of the suspected adverse events of Aplastic anaemia-induced by immune checkpoint inhibitors between January 2011 and June 2022. Results: Thirteen patients with Aplastic anaemia events while on immune checkpoint inhibitors were included in our case series, and seven of them had a fatal outcome. In FAERS, a total of 38 individual case safety reports (immune checkpoint inhibitors) with different ICI regimens were retrieved, of which 25 (65.79%) were reported as monotherapy and 13 (34.2%) had a fatal outcome. The reporting odds ratio was significant for nivolumab (reporting odds ratio 3.05, 95%CI 1.73-5.38), pembrolizumab (reporting odds ratio 2.33, 95%CI 1.16-4.67), avelumab (reporting odds ratio 12.63, 95%CI 3.15-50.62) and ipilimumab/nivolumab (ROR 2.57, 95%CI 1.15-5.72). Conclusion: There is a significant reporting signal of Aplastic anaemia with several ICI agents. Clinicians should raise awareness and monitor this potentially fatal adverse event.

Dataset Information

Familial immune-mediated aplastic anaemia in six different families.

Publications

Familial immune-mediated aplastic anaemia in six different families.

Similar Datasets

OmicsDI is part of the ELIXIR infrastructure

Tweets