paroxysmal nocturnal hemoglobinuria (PNH) | Page 19 | Aplastic Anemia and MDS International Foundation

paroxysmal nocturnal hemoglobinuria (PNH)

Paroxysmal nocturnal hemoglobinuria and concurrent JAK2(V617F) mutation

Author(s): 
Sugimori C, Padron E, Caceres G, Shain K, Sokol L, Zhang L, Tiu R, O'Keefe CL, Afable M, Clemente M, Lee JM, Maciejewski JP, List AF, Epling-Burnette PK, Araten DJ
Primary Author: 
Sugimori C
Journal Title: 
Blood Cancer J
Original Publication Date: 
Mar 2012

No abstract available.

The phenotype of a germline mutation in PIGA: the gene somatically mutated in paroxysmal nocturnal hemoglobinuria

Author(s): 
Johnston JJ, Gropman AL, Sapp JC, Teer JK, Martin JM, Liu CF, Yuan X, Ye Z, Cheng L, Brodsky RA, Biesecker LG
Primary Author: 
Johnston JJ
Journal Title: 
Am J Hum Genet
Original Publication Date: 
Feb 2012

Phosphatidylinositol glycan class A (PIGA) is involved in the first step of glycosylphosphatidylinositol (GPI) biosynthesis. Many proteins, including CD55 and CD59, are anchored to the cell by GPI. Loss of CD55 and CD59 on erythrocytes causes complement-mediated lysis in

Seroreactivity to LGL leukemia-specific epitopes in aplastic anemia, myelodysplastic syndrome and paroxysmal nocturnal hemoglobinuria: results of a bone marrow failure consortium study.

Author(s): 
Nyland SB, Krissinger DJ, Clemente MJ, Irby RB, Baab KT, Jarbadan NR, Sokol L, Schaefer E, Liao J, Cuthbertson D, Epling-Burnette P, Paquette R, List AF, Maciejewski JP, Loughran TP Jr.
Primary Author: 
Nyland SB
Journal Title: 
Leuk Res
Original Publication Date: 
Mar 2012

Large granular

Paroxysmal nocturnal hemoglobinuria in pediatric patients.

Author(s): 
Curran KJ, Kernan NA, Prockop SE, Scaradavou A, Small TN, Kobos R, Castro-Malaspina H, Araten D, Dimichele D, O'Reilly RJ, Boulad F
Primary Author: 
Curran KJ
Journal Title: 
Pediatr Blood Cancer
Original Publication Date: 
Dec 2011

BACKGROUND:

Paroxysmal nocturnal hemoglobinuria (PNH) is a rare disease in children. The most significant clinical features of PNH include: bone marrow failure, intravascular hemolysis, and thrombosis. To further characterize the clinical presentation and outcome to treatment we performed a retrospective analysis of pediatric patients with PNH.

PROCEDURE:

We reviewed the medical records of 12 consecutive pediatric patients with PNH diagnosed at our institution from 1992 to 2010.

RESULTS: