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001-es BibID:	BIBFORM063575
Első szerző:	Pénzes-Daku Krisztina (biológus)
Cím:	Alloantibody developed in a factor XIII A subunit deficient patient during substitution therapy : characterization of the antibody / K. Penzes, C. Vezina, Z. Bereczky, E. Katona, M. Kun, L. Muszbek, G. E. Rivard
Dátum:	2016
ISSN:	1351-8216
Megjegyzések:	Introduction: In factor XIII A subunit (FXIIIA) deficiency, the development of alloantibodies is extremely rare.Only four reports have been published and the antibodies were not characterized. Aim: The aim of this studywas to describe the clinical course and the laboratory diagnosis of a FXIII-A deficient patient who developedalloantibodies. Methods: FXIII activity was assessed with an ammonia release assay. FXIII-A, FXIII B subunit(FXIII-B) and the complex plasma FXIII (FXIII-A2B2) antigens were determined by ELISA. The causativemutation was detected by fluorescent DNA sequencing. The binding of alloantibody to FXIII-A2 and FXIII-A2B2was studied by surface plasmon resonance. The cleavage of FXIII-A by thrombin and Ca2+-induced activation ofthrombin-cleaved FXIII were followed by western blotting and activity measurement, respectively. Results: FXIIIactivity, FXIII-A2B2 and FXIII-A antigens were below the limit of detection in the patient's plasma. The severeFXIII-A deficiency was due to a novel homozygous mutation resulting in early stop codon (c.127C>T,p.Gln42STOP). The alloantibody bound to FXIII-A2 and FXIII-A2B2 with equally high affinity (Kd~10 8). Itaccelerated the elimination of administered FXIII concentrate from the circulation, interfered with thrombin andCa2+-induced activation and inhibited FXIII activity. Attempts to eliminate the alloantibody resulted only intransient improvement. Patient developed intracerebral haemorrhage after a minor trauma and died in spite ofaggressive replacement therapy with FXIII concentrate. Conclusion: The anti-FXIII-A alloantibody caused anunmanageable bleeding complication. The antibody was of combined subtype which accelerated the eliminationof FXIII and exerted a multiple inhibitory effect on FXIII activation/activity.
Tárgyszavak:	Orvostudományok Elméleti orvostudományok idegen nyelvű folyóiratközlemény külföldi lapban acquired FXIII deficiency alloantibody bleeding diathesis FXIII inherited FXIII deficiency
Megjelenés:	Haemophilia 22 : 2 (2016), p. 268-275. -
További szerzők:	Vezina, C. Bereczky Zsuzsanna (1974-) (orvosi laboratóriumi diagnosztika szakorvos) Katona Éva (1961-) (klinikai biokémikus) Kun Mária (1989-) (klinikai laboratóriumi kutató) Muszbek László (1942-) (haematológus, kutató orvos) Rivard, G. E.
Pályázati támogatás:	K113097 OTKA 11003TKI417 MTA TÁMOP-4.2.2.A-11/1/KONV-2012-0045 TÁMOP Trombózis Kutató Központ Kutatócsoport
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