RESUMO
Serum immunoglobulin A (IgA) concentrations were determined in 12 600 adult Swedish twins, applying a high-throughput reverse-phase protein microarray technique. The prevalence of IgA deficiency (IgAD) was found to be 1:241 in monozygotic (MZ) twins and 1:198 in dizygotic (DZ) twins. Hence, the prevalence in twins is markedly elevated as compared with the normal Swedish adult population (1:600). The twins did not show a difference in the frequency of HLA haplotypes in comparison with almost 40 000 healthy Swedish controls. As expected, the risk-conveying HLA alleles A*01, B*08 and DRB1*01 were overrepresented among the IgAD twins and were also associated with significantly lower mean serum IgA concentrations in the twin cohort. In contrast, significantly higher mean IgA concentrations were found among individuals carrying the protective HLA alleles B*07 and DRB1*15. Exome sequencing data from two MZ twin pairs discordant for the deficiency showed no differences between the siblings. Model fitting analyses derived a heritability of 35% and indicate that genetic influences are modestly important for IgAD. The probandwise concordance rates for IgAD were found to be 31% for MZ and 13% for DZ twins.
Assuntos
Antígenos HLA/genética , Haplótipos , Deficiência de IgA/epidemiologia , Deficiência de IgA/genética , Gêmeos , Alelos , Ensaio de Imunoadsorção Enzimática , Exoma , Antígenos HLA/imunologia , Sequenciamento de Nucleotídeos em Larga Escala , Humanos , Deficiência de IgA/sangue , Deficiência de IgA/imunologia , Imunoglobulina A/sangue , Imunoglobulina A/imunologia , Vigilância da População , Prevalência , Análise Serial de Proteínas , Suécia/epidemiologia , Gêmeos Dizigóticos , Gêmeos MonozigóticosRESUMO
Chromosome abnormalities of three patients with Ki-1 lymphoma are presented. In order to be included in the study each case fulfilled the following criteria: the majority of the tumour cells were positive for the Ki-1 antigen (CD30), and the cells were large with relatively abundant, slightly basophilic cytoplasm. In all cases, a major proportion of mitoses contained a complicated clonal chromosome abnormality. Two patients had a 2;5 translocation; and the third had break points at 14q32 and 2p12. The latter patient showed expression of B-cell antigens and had rearrangements in the immunoglobulin heavy chain and kappa light chain genes. The two patients with the 2;5 translocation were epithelial membrane antigen positive, but did not exhibit rearrangements of immunoglobulin/T-cell receptor genes or expression of T-/B-cell antigens.
RESUMO
We report here a patient with acute promyelocytic leukemia (APL) who has two normal chromosomes #15 but a structurally abnormal chromosome #17. This case indicates that the critical point of rearrangement in APL is not necessarily in chromosome #15 but may, alternatively, be in chromosome #17.
Assuntos
Cromossomos Humanos 13-15 , Cromossomos Humanos 16-18 , Leucemia Mieloide Aguda/genética , Translocação Genética , Medula Óssea/ultraestrutura , Bandeamento Cromossômico , Feminino , Humanos , Cariotipagem , Pessoa de Meia-IdadeRESUMO
Chromosome studies were performed on peripheral blood (PB) cells with and without stimulation, and/or on bone marrow (BM) cells from 21 patients with chronic myeloid leukaemia (CML), and 18 patients with myelofibrosis (MF). Our results show that almost all the patients with immature granulocyte precursors in PB also had mitotic cells in their unstimulated PB. In CML all unstimulated mitoses had the Philadelphia chromosome. In each patient the abnormal karyotype in the PB was the same as in the BM. Because of the high frequency of dry taps in myelofibrosis, the tissue of choice for chromosome study is peripheral blood.