title: Neonatal isoimmune thrombocytopenia caused by type I CD36 deficiency having novel splicing isoforms of the CD36 gene.
abstract: Neonatal alloimmune thrombocytopenia (NAIT) occurs because of transplacentally acquired maternal platelet alloantibodies. Most of the alloantibodies are against human platelet antigens, but the alloantibody against CD36 is rare. A full-term female baby was delivered by a mother who experienced two spontaneous abortions. The baby had thrombocytopenia with cephalhematoma. The platelet count increased by immunoglobulin therapy (400 mg/kg) for 3 d. Platelet antibody was detected in the postpartum maternal serum. The specificity of the antibody directed against platelets was identified as anti-Nak(a) (CD36). Flow cytometric analysis showed no expression of CD36 in both platelets and monocytes from mother. Mutation analysis revealed two different splicing isoforms of maternal CD36 mRNA. One allele was exon 4 skipping, another was exon 9 skipping, both of which led to a frameshift and produced a truncated CD36 protein. These results indicate that NAIT is caused by maternal CD36 deficiency having CD36 splicing abnormalities.
authors.affiliation: Department of Pediatrics, Shimane University Faculty of Medicine, Izumo, Japan. ttaketani@med.shimane-u.ac.jp <ttaketani@med.shimane-u.ac.jp>
authors.forename: Takeshi
authors.initials: T
authors.lastname: Taketani
authors.forename: Kimiko
authors.initials: K
authors.lastname: Ito
authors.forename: Seiji
authors.initials: S
authors.lastname: Mishima
authors.forename: Rie
authors.initials: R
authors.lastname: Kanai
authors.forename: Atsushi
authors.initials: A
authors.lastname: Uchiyama
authors.forename: Yasushi
authors.initials: Y
authors.lastname: Hirata
authors.forename: Shunichi
authors.initials: S
authors.lastname: Kumakura
authors.forename: Hiroto
authors.initials: H
authors.lastname: Ishikura
authors.forename: Seiji
authors.initials: S
authors.lastname: Yamaguchi
mesh_terms: D018955:CD36 Antigens / Q000235:genetics*; D005260:Female; D016368:Frameshift Mutation; D006801:Humans; D007223:Infant; D011247:Pregnancy; D020033:Protein Isoforms / Q000235:genetics; D012326:RNA Splicing; D054098:Thrombocytopenia, Neonatal Alloimmune / Q000209:etiology*
chemical_list: D018955:CD36 Antigens; D020033:Protein Isoforms