In this paper, we analyse the occurrence of BLAD and CVM heterozygous animals in Holstein cattle in the Czech Republic in 1993-2005. The occurrence of BLAD heterozygous sires and heifers (BL) during the period 1993-1998 in Czech Holsteins was 13.9% and 10.7%. Radical measures have been taken to restore the population. Evidently, the measures have been efficient, in 2005 one BLAD heterozygous sire of 101 was found. Continuous testing is necessary, because in commercial herds, the eradication process is not short-term. The found occurrence ofCVM heterozygous sires (CV) decreased from 20% in 2001 to 8% (7 positive of 85) in 2005.This is still quite a high frequency. The occurrence in CV females of 20% remains higher. Therefore, the use of CV sires should be restricted thoroughly. Identification of the molecular basis for inherited diseases, should lead to control measures which would enable the quick recovery of the population.
- MeSH
- chov metody MeSH
- druhová specificita MeSH
- frekvence genu * MeSH
- genotyp MeSH
- heterozygot MeSH
- homozygot MeSH
- LAD syndrom epidemiologie genetika veterinární MeSH
- nemoci skotu epidemiologie genetika MeSH
- páteř abnormality MeSH
- polymerázová řetězová reakce veterinární MeSH
- prevalence MeSH
- rodokmen * MeSH
- skot MeSH
- zvířata MeSH
- Check Tag
- mužské pohlaví MeSH
- skot MeSH
- ženské pohlaví MeSH
- zvířata MeSH
- Publikační typ
- časopisecké články MeSH
- práce podpořená grantem MeSH
Deficiencies in adhesion molecules or their counter-receptors in humans may have severe consequences as exemplified by leukocyte adhesion deficiency (LAD) I or II syndromes. Because such diseases occur with great rarity, animal models are valuable for studying the role of particular adhesion molecules and their natural ligands in immunity. We studied selected immune parameters and general health in mice with a defect in the sialyl-Lewis X antigen (selectin ligand) caused by disruption of the gene encoding alpha(1,3)fucosyltransferase VII (Fuc-TVII). Leukocytes from Fuc-TVII -/- and control mice were tested for adherence to cellophane membranes or polymer particles in vivo and phagocytic activity in vitro. While no difference in adherence was found, the number of neutrophil granulocytes in exudate induced by intraperitoneal injection of polymer beads was reduced in knock-out mice. Moreover, the phagocytic activity in Fuc-TVII -/- mice was significantly reduced. These animals have splenomegaly due to increased hematopoiesis and reduced weight but do not exhibit clinical signs of immunodeficiency. In conclusion, the lack of Fuc-TVII activity leads to several morphological and functional abnormalities without an impact on survival rate.
- MeSH
- buněčná adheze MeSH
- buňky kostní dřeně patologie MeSH
- Candida albicans * MeSH
- celofán MeSH
- fagocytóza genetika fyziologie MeSH
- fukosyltransferasy nedostatek genetika MeSH
- LAD syndrom krev genetika MeSH
- membrány umělé MeSH
- modely nemocí na zvířatech MeSH
- myši inbrední C57BL MeSH
- myši inbrední DBA MeSH
- myši knockoutované MeSH
- myši MeSH
- neutrofily mikrobiologie fyziologie MeSH
- slezina patologie MeSH
- zvířata MeSH
- Check Tag
- myši MeSH
- zvířata MeSH
- Publikační typ
- časopisecké články MeSH
- práce podpořená grantem MeSH
- Názvy látek
- celofán MeSH
- fukosyltransferasy MeSH
- galactoside 3-fucosyltransferase MeSH Prohlížeč
- membrány umělé MeSH
The authors describe the first successful case of transplantation of haematopoietic stem cells in a patient with severe congenital immunodeficiency-the syndrome of deficiency of leukocytary integrins (LAD), leukocyte adhesion deficiency) in the Czech Republic and, at the same time, the first successful transplantation of umbilical blood in this disease in the world. The six-year boy was completely cured by the transplantation of haematopoietic stem cells contained in umbilical blood sampled during delivery of his healthy brother with identical HLA system. The pretransplantation myeloablative preparation was performed by a combination of busulfan, cyclophosphamide and etoposide. The relatively uncomplicated posttransplantation course was secured by preventive administration of antibiotics and immunoglobulins. The reattachment of the stem cells, estimated from the peripheral blood picture, occurred 25 days after the transplantation, the success of the intervention was confirmed by reaching physiological values of originally null expression of integrins on leukocytes of the patient 30 days after the transplantation. The transplantation of umbilical blood is a very promising therapeutic method especially in children with leukemia, congenital severe immunodeficiencies o inborn errors of metabolism.
- MeSH
- dítě MeSH
- fetální krev cytologie MeSH
- LAD syndrom terapie MeSH
- lidé MeSH
- transplantace fetální tkáně * MeSH
- transplantace hematopoetických kmenových buněk metody MeSH
- Check Tag
- dítě MeSH
- lidé MeSH
- mužské pohlaví MeSH
- Publikační typ
- anglický abstrakt MeSH
- časopisecké články MeSH
- kazuistiky MeSH
- práce podpořená grantem MeSH
A 6-year-old boy with the severe form of the leukocyte adhesion deficiency syndrome (LAD) received a transplant of cord blood (CBT) from his HLA-identical brother. The donor was proved healthy by successful prenatal diagnosis. CBT was performed after conditioning with etoposide, busulfan and cyclophosphamide. After hematopoietic recovery complete chimerism was proved as well as the normal expression of CD11x/CD18 complex on circulating leukocytes. The only post-transplant complication was a mild pneumonitis resolving on the corticosteroid therapy. Thirteen months after CBT the boy is in good health and shows no signs of immunodeficiency. As far as we know this is the first report of successful CBT in a patient with LAD syndrome.
- MeSH
- chiméra MeSH
- dítě MeSH
- fetální krev cytologie MeSH
- histokompatibilita MeSH
- imunofenotypizace MeSH
- LAD syndrom diagnóza terapie MeSH
- lidé MeSH
- nemoci plodu diagnóza MeSH
- novorozenec MeSH
- nukleární rodina MeSH
- odběr fetální krve MeSH
- příprava pacienta k transplantaci MeSH
- transplantace hematopoetických kmenových buněk * MeSH
- Check Tag
- dítě MeSH
- lidé MeSH
- mužské pohlaví MeSH
- novorozenec MeSH
- Publikační typ
- časopisecké články MeSH
- kazuistiky MeSH
- práce podpořená grantem MeSH
The syndrome of leukocyte adhesion deficiency (LAD) is a rare congenital immunodeficiency which is usually manifested from birth by serious infections of the skin and mucosal membranes. The molecular basis of the disease is heterogeneous: quantitative or qualitative disorders of the beta 2 integrin sub-unit are involved which lead to the absence or substantially reduced expression of adhesive molecules of the CD11/CD18 complex on leukocytes. The authors describe the case of a boy who suffered from this syndrome. The diagnosis was established at the age of four years, based on the typical clinical picture and confirmed by examination of integrins on lymphocytes and granulocytes which were zero. During the mother's subsequent pregnancy prenatal diagnosis was made by puncture of the umbilical cord during the 22nd week of gestation. Affection of the foetus by this syndrome was ruled out by examination of integrin expression on foetal leukocytes, a normal finding was confirmed also after delivery. During delivery umbilical blood was collected which was frozen and later used for therapeutic transplantation to the sibling suffering from LAD. This is the first case of this syndrome in the Czech Republic and first prenatal diagnosis which led to aimed collection of umbilical blood used for treatment of this rare immunodeficiency.
