Brief Report: Inherited Complete Deficiency of 20-Kilodalton Homologous Restriction Factor (CD59) as a Cause of Paroxysmal Nocturnal Hemoglobinuria

• Published in: The New England journal of medicine Vol. 323; no. 17; p. 1184
• Main Authors: Yamashina, Manabu, Ueda, Etsuko, Kinoshita, Taroh, Takami, Tsuyoshi, Ojima, Akitsugu, Ono, Hiromasa, Tanaka, Hiroshi, Kondo, Naomi, Orii, Tadao, Okada, Noriko, Okada, Hidechika, Inoue, Kozo, Kitani, Teruo
• Format: Journal Article
• Language: English
• Published: Boston Massachusetts Medical Society 25.10.1990
• Subjects: Anemia; Autosomal recessive inheritance; Biopsy; CD59 antigen; Complementary DNA; Fibroblasts; Genotype & phenotype; Granulocytes; Immunoglobulins; Laboratories; Medicine; Molecular weight; Paralysis; Paroxysmal nocturnal hemoglobinuria; Pediatrics; Proteins
• ISSN: 0028-4793; 1533-4406
• DOI: 10.1056/NEJM199010253231707

The cultured fibroblasts and the frozen skin tissues were stained with anti-DAF (IA10) and anti-HRF20 (1F5) according to the ABC (avidin-biotin-peroxidase complex) method. Since B lymphocytes express HRF2021 and DAF,34 studies were carried out initially with tonsillar tissues to establish optimal conditions for the detection of DAF and HRF20 in fibroblasts and frozen skin tissues. Immunohistochemical Studies The results of the cell-sorter analysis raised the question of whether HRF20 was present on the surface of nonhematopoietic somatic cells of the patient. [...]cultured fibroblasts and skin tissues from the patient and the normal subjects were examined according to the ABC method. [...]the patient's erythrocytes and granulocytes were completely deficient in HRF20, and his parents' cells had decreased surface expression of HRF20. Since the mother and father are cousins and have had no episodes of hemolysis, they are considered to be heterozygous carriers of this deficiency, suggesting that the disorder may be due to autosomal recessive inheritance. Within the past two years the patient has had more episodes of hemolysis of short duration, and within the past year he has had a cerebral infarction that led to a left-sided hemiplegia. Since the complementary DNA for HRF20 has been cloned,26 the production of recombinant HRF20 as a possible therapeutic agent is being considered for this patient.