1/17. Selective T-cell deficiency in Turner's syndrome.The case of a 29-year-old Caucasian woman with 45 X0 karyotype, known as Turner's syndrome, and a recently diagnosed selective T-cell deficiency is reported. The main clinical features of the patient were recurrent sinopulmonary infections and a negative skin test with seven common recall antigens. Laboratory findings included lymphocytopenia, highly elevated CD45RA/CD45R0 ratio, as well as reduced expression of the co-stimulatory molecules CD154, CD86, CD80 and CD28 on CD4 cells in combination with disturbed lymphocyte transformation in vitro. Markedly decreased levels of interleukin (IL)-2R, both on lymphocyte surface as well as the soluble analog, suggest a new form of x-linked immunodeficiency associated with Turner's syndrome.- - - - - - - - - - ranking = 1keywords = karyotype (Clic here for more details about this article) |
2/17. Humoral immunodeficiency with facial dysmorphology and limb anomalies: a new syndrome.We report a 6 year old girl with an isolated humoral immune deficiency and a unique combination of dysmorphic features. Physical findings include microcephaly, micrognathia, sickle shaped eyebrows, hypoplastic alae nasi, thenar hypoplasia, partial 4-5 syndactyly of toes, recessed great toes, anterior anus, and hypoplastic labia minora. Radiographic findings include triphalangeal thumbs and hypoplastic first metatarsals. She has postnatal growth retardation and her development is substantially slower than her twin's. Her clinical course has been complicated by recurrent sinopulmonary infections and pneumococcal bacteraemia. Laboratory evaluation revealed hypogammaglobulinaemia, absent B cells, and a 46,XX karyotype. A review of the literature and the london Dysmorphology database did not produce any recognizable syndromes that match her constellation of findings. She may represent a unique syndrome of unknown etiology.- - - - - - - - - - ranking = 1keywords = karyotype (Clic here for more details about this article) |
3/17. Selective polysaccharide antibody deficiency in familial digeorge syndrome.A family including three children with digeorge syndrome is described. One child died in the neonatal period from cardiac anomalies accompanying complete digeorge syndrome. The two surviving siblings shared a common set of pharyngeal pouch anomalies and immunodeficiency consistent with partial digeorge syndrome, and other morphologic anomalies characteristic of the velocardiofacial syndrome with which familial digeorge syndrome is associated (reviewed in reference 1). Both had normal karyotypes. Both presented with recurrent otitis media and sinopulmonary infections, CD4 T cell lymphopenia, and defective DCH skin test responses to recall T cell antigens. Both had low serum IgM levels and IgG4 levels at the lower limits of normal. immunization with bacterial polysaccharides resulted in impaired IgG antibody responses to the same set of antigens (H. influenzae polyribophosphate and S. pneumoniae capsular serotypes 9N and 14), while responses to protein antigens were intact. Both siblings were treated successfully with intravenous gamma globulin. The pattern of selective antibody deficiency in these patients with familial digeorge syndrome suggests a heritable lesion in certain regulatory antipolysaccharide CD4 T cell subpopulations.- - - - - - - - - - ranking = 1keywords = karyotype (Clic here for more details about this article) |
4/17. Three-dimensional ultrasound in the prenatal diagnosis of cleidocranial dysplasia associated with B-cell immunodeficiency.A patient with a singleton pregnancy was referred for three-dimensional ultrasonography (3DUS) at 18 3 weeks for suspected hypomineralization of the skull bones and absence of the nasal bones. Three-dimensional rendered images of the fetal skull revealed widening of the coronal sutures, absence of the squamous portion of the temporal bone, and absence of the occipital bone, except for two areas of ossification. In addition, a fractured right clavicle was identified. The remainder of the fetal anatomy was normal and biometry was appropriate for gestational age. Genetic amniocentesis revealed a 46,XX fetal karyotype. family history was positive for a 5-year-old sibling with an open anterior fontanelle. cleidocranial dysplasia was suspected. A female neonate was delivered by elective repeat cesarean section at 40 3 weeks of gestation without complications and discharged home 3 days after delivery. prenatal diagnosis was confirmed by physical and radiological evaluation.The infant died at 8 weeks of age due to respiratory syncytial virus pneumonia secondary to B-cell deficiency. RUNX2 mutations were not detected by molecular analysis. There are three relevant aspects to this case: (1) clear visualization of the widened fontanelles and hypomineralized occipital bones was possible with the use of 3DUS; (2) a clavicular fracture was identified in utero with combined high-resolution two-dimensional and 3DUS; and (3) although absence of the nasal bones is most commonly observed in fetuses with chromosomal disorders (e.g. trisomy 21 and trisomy 18), a careful examination of the skeleton should be considered in fetuses with absent nasal bones and a normal karyotype.- - - - - - - - - - ranking = 2keywords = karyotype (Clic here for more details about this article) |
5/17. Immune status in two brothers with Omenn's syndrome: no discernible chimerism on FACS analysis using a monoclonal antibody specific for a maternally restricted HLA antigen.Sequential immunologic examinations, including lymph node biopsies, in two brothers with clinical characteristics of Omenn's syndrome are presented in this study. Although the number of circulating T cells with mature phenotype (OKT3 , TCR1 ) was within normal range, the lymphocyte proliferative response to mitogens was poor. Examinations of the lymph nodes revealed marked lymphoid depletion associated with eosinophilic infiltration and reticular cell proliferation. Over the clinical course of 5 months, circulating T cells also mostly disappeared. Thymic hypoplasia was noted at autopsy. Although intrauterine graft-versus host disease (GVHD) has been hypothesized as being the pathogenetic mechanism in this syndrome, maternal lymphocytes circulating in these patients were not identified either by karyotype and HLA typing or by highly sensitive FACS analysis and immunohistochemical studies using a monoclonal antibody, HLA-A9, specific for a maternally restricted HLA antigen, Aw24. In conclusion, the familial occurrence and the absence of maternal chimerism might be the essential features of Omenn's syndrome which should be differentiated from fetal GVHD.- - - - - - - - - - ranking = 1keywords = karyotype (Clic here for more details about this article) |
6/17. A disease with immune deficiency, skin abscesses, pancytopenia, abnormal bone marrow karyotype, and increased sister chromatid exchanges: an autosomal recessive chromosome instability syndrome?A 19-year-old girl is described with microcephaly, short stature, mental retardation, pigmentation of the skin, and recurrent skin abscesses over the whole body. Her elder brother and sister both showed growth and developmental retardation, microcephaly, and anemia. Both died during childhood. Their parents were first cousins. Laboratory studies of the proband revealed hyperchromic erythrocytes with an increased HbF content, thrombocytopenia, an impaired mitogenic response of the PHA-stimulated lymphocytes, and partial impairment of humoral and cellular immunity. She developed pancytopenia in the terminal stage of the disease. Cytogenetic studies of the bone marrow revealed 46,XX, 15p , -18, mar karyotype, increased chromosomal aberrations and sister chromatid exchanges, in cultured lymphocytes and skin fibroblasts. She died at age 20. Thus, the disorder in the patient was deduced as an unclassified chromosomal breakage syndrome with an apparently autosomal recessive inheritance.- - - - - - - - - - ranking = 5keywords = karyotype (Clic here for more details about this article) |
7/17. A case of incomplete digeorge syndrome associated with partial monosomy 22q11.1 due to maternal 14;22 translocation.We report a boy with some clinical symptoms compatible with a diagnosis of incomplete digeorge syndrome. He had a dismorphic face, micrognathia, cleft palate, and heart anomalies similar to digeorge syndrome, but lacked aplasia of the thymus or hypoparathyroidism typical of the syndrome. High-resolution banding analysis revealed that his karyotype was 45,XY,-14,-22, der(14)(14pter 14q32.32::22q11.21 22qter), the consequence of a maternal reciprocal translocation between chromosomes 14 and 22. Precise localization of the gene responsible for the present digeorge syndrome was assigned to subband 22q11.1.- - - - - - - - - - ranking = 1keywords = karyotype (Clic here for more details about this article) |
8/17. X-ring Turner's syndrome with combined immunodeficiency and selective gonadotropin defect.A rare association of chromosomal, immunological and endocrine defects is described in a young woman with short stature, recurrent pulmonary infections and primary amenorrhea. Cytogenetic studies showed a 45, X karyotype in 65% of peripheral blood lymphocytes and 46,Xr(X) (p22q27) karyotype in the remaining 35%. Severe immunodeficiency was revealed by phenotypical and functional studies and a selective gonadotropin defect was disclosed by endocrinological investigations. An attempt is made to explain the coexistence of the three abnormal pictures.- - - - - - - - - - ranking = 2keywords = karyotype (Clic here for more details about this article) |
9/17. Further delineation of the nijmegen breakage syndrome.We report on five independent families with a chromosome instability disorder that earlier had been called the nijmegen breakage syndrome (NBS). These families, two from the netherlands and three from czechoslovakia, had a total of eight patients, five of whom are still alive. The main clinical manifestations were microcephaly, short stature, a "bird-like" face, immunological defects involving both the humoral and cellular system. In four of the five living patients it has been possible to study the chromosomes of cultured lymphocytes. The basic karyotype in these patients were normal, but in 17% to 35% of the metaphases rearrangements were found, preferentially involving chromosomes 7 and/or 14 at the sites 7p13, 7q34, and 14q11. The chromosomes of all five living patients were very sensitive to ionizing radiation. In addition, the DNA synthesis in their cultured lymphocytes and fibroblasts was more resistant to x-rays than in cells from controls. The NBS shares a number of important features with ataxia telangiectasia (AT). Both syndromes are characterized by the occurrence of typical rearrangements of chromosomes 7 and/or 14, cellular and chromosomal hypersensitivity to X-irradiation, radioresistance of dna replication and immunodeficiency. However, there are also obvious differences: NBS patients have microcephaly but neither ataxia nor telangiectasia, and in contrast to the situation in AT the alpha-fetoprotein level in their serum is normal.- - - - - - - - - - ranking = 1keywords = karyotype (Clic here for more details about this article) |
10/17. Appearance of multiple benign paraproteins during early engraftment of soy lectin T cell-depleted haploidentical bone marrow cells in severe combined immunodeficiency.Recent advances in the prevention of graft-versus-host disease through postthymic T-cell depletion have allowed the use of haploidentical bone marrow cells for immunologic reconstitution of severe combined immunodeficiency disease. We report a male infant with severe combined immunodeficiency (with normal adenosine deaminase) who developed two IgG kappa and one IgA lambda paraproteins 7 weeks following the administration of 1.4 X 10(9) maternal bone marrow cells depleted of postthymic T cells by soy lectin agglutination and sheep erythrocyte rosetting. serum IgG rose from 128 to 820 mg/dl, and IgA from 0 to 2400 mg/dl, peaking at 10 weeks postgrafting. By 14 weeks posttransplantation T-cell numbers and function had risen to normal (all dividing T cells had the donor karyotype) and paraprotein concentrations began to decline. These observations strongly suggest that the later-appearing T cells regulated the B-cell clones from which the paraproteins were derived. Failure of such function to appear could account for the increased incidence of B-cell lymphomas in severe combined immunodeficiency.- - - - - - - - - - ranking = 1keywords = karyotype (Clic here for more details about this article) |
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