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Query: UMLS:C0021051 (immunodeficiency)
 71,517 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

Instability of the heterochromatic centromeric regions of chromosomes 1 and 16 associated with immunodeficiency (decreased IgA, IgG and IgM) and facial dysmorphism were found in a 1 1/2 year old boy. 64.5% of his lymphocytes had chromosomal abnormalities: Stretching of the heterochromatic centromeric regions of the chromosomes 1 and 16, homologous and non-homologous associations and multi-branched configurations of chromosomes 1 and 16. Similar phenotypic and chromosomal abnormalities were described in 8 previously by published cases.
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PMID:[ICF syndrome. Immunodeficiency, chromosomal centromere instability, facial anomalies. Case report and literature review]. 155 60

Ataxia-telangiectasia (AT) is a heterogeneous autosomal recessive disorder marked by cerebellar ataxia, oculocutaneous telangiectases, hypersensitivity to ionizing radiation, immunodeficiency, and cancer susceptibility. AT is also a spontaneous chromosomal breakage syndrome, notable for tissue-specific cytogenetic changes and telomeric fusions. Molecular characterization of rearrangements specific to T-lymphocytes suggests that a DNA repair/processing defect is potentially responsible for the diverse array of chromosomal abnormalities observed in a variety of AT cell types.
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PMID:The cytogenetics of ataxia telangiectasia. 175 58

Ataxia telangiectasia (A-T) is an autosomal recessive disorder characterised by progressive neurological degeneration, oculocutaneous telangiectasia, immunodeficiency and a high incidence of lymphoid tumours. A prerequisite to gaining a complete understanding of the basic defect that results in these features is the localization of the gene(s) involved. We report here a linkage analysis using seven polymorphic markers, which map to 11q22-23, on a sample of 35 consecutively obtained families from the British Isles showing this disorder. In a pairwise analysis, the strongest support for linkage was a lod score of 4.01 at zero recombination from Thy-1. This result supports a previous report showing linkage of the A-T gene to 11q22-23. We have also obtained evidence in a multipoint analysis for a more centromeric A-T-linked locus in the region between YNB 3.12/CJ52.208 and 2-7-1D6. This observation is also supported by inspection of the haplotypes of selected recombinants.
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PMID:Analysis of 7 polymorphic markers at chromosome 11q22-23 in 35 ataxia telangiectasia families; further evidence of linkage. 237 52

Instability of the centromeric region of chromosome 1, and multibranched configurations formed by the short and long arms were seen in a brother and sister with facial dysmorphism, mental retardation and recurrent infections. No chromosomal abnormalities were seen in the parents, who were first cousins. The fragility of chromosome 1 was identified in amniotic fluid cells of the sister. A combined immunodeficiency characterized by a lack of immunoglobulin production, low numbers of T cells and a lack of cells with NK cell markers was diagnosed. This is the first report of familial occurrence of this unique chromosomal aberration. The cause may be an autosomal recessive gene defect.
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PMID:Fragility of the centromeric region of chromosome 1 associated with combined immunodeficiency in siblings. A recessively inherited entity? 238 52

A new patient with the rare ICF syndrome (immunodeficiency, centromeric heterochromatin instability, and facial anomalies) is reported. The six patients previously reported in the literature are reviewed. The main clinical and cytogenetic characteristics of the syndrome are discussed.
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PMID:Multibranched chromosomes in the ICF syndrome: immunodeficiency, centromeric instability, and facial anomalies. 272 62

Instability of the heterochromatic centromeric regions of chromosomes 1, 9, and 16 associated with immunodeficiency was found in a four year old girl. Similar phenotypic and chromosomal abnormalities were described in a previous patient studied by us and in four other published cases. All these patients have facial anomalies in addition to combined immunodeficiency and chromosomal instability. Stretching of the heterochromatic centromeric regions of chromosomes 1, 16, and to a lesser extent, 9 and homologous and non-homologous associations of these regions were the most common cytogenetic findings in all the patients. Multi-branched configurations and whole arm deletions of chromosomes 1 or 16 or both were also found. Comparing clinical and chromosomal data we conclude that immunodeficiency, centromeric heterochromatin instability, and facial anomalies form a new syndrome, for which we propose the acronym ICF. A mutation interfering with the normal process of condensation of part of the centromeric heterochromatin is postulated as the basic chromosome defect in this syndrome.
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PMID:Immunodeficiency, centromeric heterochromatin instability of chromosomes 1, 9, and 16, and facial anomalies: the ICF syndrome. 335 4

We describe an extended study of a boy with combined immunodeficiency and centromeric fragility of chromosomes 1 and 16. This case, together with three previously reported cases with similar clinical, immunological and chromosomal features, appears to confirm a specific syndrome of immune deficiency associated with centromeric fragility of chromosomes 1, 9 and 16.
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PMID:Centromeric instability of chromosomes 1 and 16 with variable immune deficiency: a new syndrome. 400 76

Juxta-centromeric fragility of chromosomes 1, 2, 9, 16, has been described at least thrice in unrelated patients in association with combined immunodeficiency. This association has been confirmed by our findings in both immunodeficient and cancer patients. In our opinion, both the fragility and the immunodeficiency are the results of persistent viral infections by certain DNA (i.e.: Herpes-, Papova-) viruses or RNA (retro-) viruses (i.e. HTLV), which are lymphotropic. The immunodeficiency may be due to virus-cell, cell to cell, or virus-virus interactions. According to our findings, centromeric fragility of chromosome 2 appears to have a particular oncogenic potential probably because of its location in proximity to immunoglobulins genes. We suggest that centromeric fragility of chromosomes 1, 2, 9, 16, may be one of the symptoms of an incipient Acquired Immunodeficiency Syndrome (AIDS) which will not necessarily develop fully.
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PMID:Juxta-centromeric fragility of chromosomes 1, 2, 9, 16, and immunodeficiency. Special reference to the fragility of chromosome 2 and its oncogenic potential. 648 26

Instability of the centromeric regions of chromosomes 1, 9, and 16 in cultured lymphocytes of an 8-month-old girl with malabsorption and combined immunodeficiency is reported. Together with the two previous reports on this condition, the present report seems to confirm the specific association of combined immunodeficiency and centromeric instability of chromosomes 1, 9, and 16 with multibranching.
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PMID:Centromeric instability of chromosomes 1, 9, and 16 associated with combined immunodeficiency. 726 65

A further patient with the ICF syndrome (immunodeficiency, centromeric heterochromatin instability of chromosomes 1, 9 and 16 and facial anomalies) is described. This case is the second to be reported with consanguinity of the parents. This lends support to the theory of autosomal recessive inheritance. The features of the 15 published cases are reviewed. The clinical and cytogenetic characteristics of the syndrome are discussed, and new evidence provided as to the role of centromeres and centric heterochromatin in the production of chromosome aberrations. Correspondence with other authors has made possible a review of the clinical outcome in this condition.
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PMID:ICF syndrome (immunodeficiency, centromeric instability and facial anomalies): investigation of heterochromatin abnormalities and review of clinical outcome. 755 62


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