Aplastic anemia: pathophysiology

V Giudice, C Selleri - Seminars in Hematology, 2022 - Elsevier
Bone marrow failure (BMF) syndromes are a heterogeneous group of benign hematological
conditions characterized by uni-or multi-lineage marrow and/or peripheral blood cytopenia …

Current research status of HLA in immune‐related diseases

B Liu, Y Shao, R Fu - Immunity, Inflammation and Disease, 2021 - Wiley Online Library
Human leukocyte antigen (HLA), also known as human major histocompatibility complex
(MHC), is encoded by the HLA gene complex, and is currently known to have the highest …

[HTML][HTML] Pathogenicity and impact of HLA class I alleles in aplastic anemia patients of different ethnicities

TS Olson, BF Frost, JL Duke, M Dribus, HM Xie… - JCI insight, 2022 - ncbi.nlm.nih.gov
Acquired aplastic anemia (AA) is caused by autoreactive T cell–mediated destruction of
early hematopoietic cells. Somatic loss of human leukocyte antigen (HLA) class I alleles was …

A frequent nonsense mutation in exon 1 across certain HLA-A and HLA-B alleles in leukocytes of patients with acquired aplastic anemia

H Mizumaki, K Hosomichi, K Hosokawa… - …, 2020 - pmc.ncbi.nlm.nih.gov
Leukocytes that lack expression of HLA alleles are frequently detected in patients with
acquired aplastic anemia (AA) who respond to immunosuppressive therapy, although the …

Somatic mutations and clonal expansions in paroxysmal nocturnal hemoglobinuria

K Hosokawa, S Nakao - Seminars in Hematology, 2022 - Elsevier
Paroxysmal nocturnal hemoglobinuria (PNH) is an acquired clonal hematopoietic stem cell
disorder caused by a mutation of the X-linked PIGA gene, resulting in a deficient expression …

Anti-COX-2 autoantibody is a novel biomarker of immune aplastic anemia

T Kelkka, M Tyster, S Lundgren, X Feng, C Kerr… - Leukemia, 2022 - nature.com
In immune aplastic anemia (IAA), severe pancytopenia results from the immune-mediated
destruction of hematopoietic stem cells. Several autoantibodies have been reported, but no …

Hematopoietic stem progenitor cells lacking HLA differ from those lacking GPI-anchored proteins in the hierarchical stage and sensitivity to immune attack in patients …

T Yoroidaka, K Hosokawa, T Imi, H Mizumaki… - Leukemia, 2021 - nature.com
To characterize glycosylphosphatidylinositol-anchored protein-deficient (GPI [−]) and HLA-
class I allele-lacking (HLA [−]) hematopoietic stem progenitor cells (HSPCs) in acquired …

[HTML][HTML] Inducible Pluripotent Stem Cell Models to Study Bone Marrow Failure and MDS Predisposition Syndromes

SS Sahoo, M Khiami, MW Wlodarski - Experimental Hematology, 2024 - Elsevier
Induced pluripotent stem cells (iPSCs) have emerged as powerful tools for in vitro modeling
of bone marrow failure (BMF) syndromes and hereditary conditions predisposing to …

[HTML][HTML] Recurrent disease after a matched sibling hematopoietic transplant in an aplastic anemia patient with a disease risk allele, HLA-B* 40: 02

A Khosla, Y Inoue, J Cioccio, K Rakszawski… - Blood …, 2024 - pmc.ncbi.nlm.nih.gov
Recurrent disease after a matched sibling hematopoietic transplant in an aplastic anemia
patient with a disease risk allele, HLA-B*40:02 - PMC Skip to main content Here's how you …

Diagnosis of immune pathophysiology in patients with bone marrow failure

S Nakao - International Journal of Hematology, 2024 - Springer
Differential diagnosis of pancytopenia with bone marrow (BM) hypoplasia represented by
aplastic anemia (AA) is often challenging for physicians, because no laboratory tests have …