Gene/Protein Disease Symptom Drug Enzyme Compound
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Query: UMLS:C0024312 (lymphopenia)
 4,859 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

The present report describes an infant with severe combined immunodeficiency and cartilage-hair hypoplasia whose lymphocytes responded to thymosin in vitro. Immunologic evaluation was undertaken at 4 1/2 months of age following a history of recurrent severe infection. Family history included three cousins who died in early infancy, one from streptococcal meningitis and pneumonia, one from generalized varicella, and another from reticuloendotheliosis. Quantitative immunoglobulins were markedly depressed: IgG 141, IgA 0, and IgM 24 mg/100 ml. There was an absolute lymphopenia, multiple skin tests were negative, and in vitro lymphocyte responses to mitogens and antigens were depressed. Spontaneous E rosette determinations were 21% compared with control values of 65.7%. Erythrocyte adenosine deaminase (ADA) activity was normal. The patient's E rosette formation increased in the presence of thymosin, fraction 5, reaching a maximum of 56% with a concentration of 500 mug thymosin. Blastogenic responses to phytohemagglutinin also increased in the presence of thymosin. Transplantation of 24-week fetal thymus in Millipore diffusion chambers and subsequently transplantation of 18-week fetal thymus by intraperitoneal injection was accomplished. E rosettes increased to 35-40% and blastogenic responses to mitogens increased. Eight days after the second transplant the patient underwent a mild graft vs. host reaction which subsided after 1 week and mitogen blastogenic responses again increased to 5-8 times previous values, but still well below control ranges. Repeated episodes of pulmonary infection ensued, cor pulmonale resulted, and the clinical course was relentlessly downhill with the patient expiring from respiratory failure 5 months after transplantation.
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PMID:Severe combined immunodeficiency with cartilage-hair hypoplasa: in vitro response to thymosin and attempted reconstitution. 99 98

A retrospective study aiming at detection of heterozygous carriers of blood adenosine deaminase (ADA) deficiency was carried out in nine families known to us because children had died of combined immunodeficiency (SCID). The trait was found in 3 of 9 parent couples, and in 14 other relatives. In two families one homozygous patient was identified. A total of 54 family members and 60 healthy control subjects were tested. Clinically, the patients were all characterized by marked lymphopenia, nearly normal immunoglobulin levels, and inability to produce antibodies. One homozygous patient recovered after transplantation of fetal liver and thymus and is immunologically normal 1.5 years afterwards.
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PMID:Hereditary sever combined immunodeficiency and adenosine deaminase deficiency. 124 64

This review describes the clinical, immunologic and pathologic features of two naturally-occurring models of severe combined immunodeficiency (SCID) in domestic animals that represent different forms of human SCID. Canine X-linked SCID (XSCID) has an X-linked recessive mode of inheritance and, as such, represents a model for the most common form of human SCID in the United States. Affected dogs have normal percentages of circulating B cells and low to normal percentages of phenotypically mature, but nonfunctional T cells. Severe combined immunodeficiency in the horse is an autosomal recessive form of SCID that is characterized by a profound lymphopenia affecting both the B and T cell lineage most likely due to a lymphoid stem cell defect. Since these diseases are naturally-occurring in an outbred species, like man, they represent unique animal models of their respective human counterparts in which to determine the underlying immunologic defect(s), to evaluate novel approaches to immunotherapy or gene therapy, and to evaluate therapeutic regimens for opportunistic infections associated with SCID.
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PMID:Domestic animal models of severe combined immunodeficiency: canine X-linked severe combined immunodeficiency and severe combined immunodeficiency in horses. 144 87

Severe combined immunodeficiency disease (SCID) with adenosine deaminase (ADA) deficiency is a genetic autosomic recessive disorder with profound impairment of T-cell function, invariably complicated by fatal infections. The absence of ADA-enzyme and the accumulation of deoxy-ATP, with toxic effects on the T-lymphocytes is the common feature of this disease. As a consequence, lymphoid precursors failure to develop into mature T-cells, resulting in absolute lymphopenia and atrophy of the thymus. Bone marrow transplantation from an HLA-identical donor is considered the treatment of choice for this disease. We describe the case of a 1-month-old child with ADA deficiency SCID who underwent bone marrow transplantation (BMT) using paternal haploidentical, lectin-separated marrow, as a source of hemopoietic stem cells.
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PMID:Successful lectin-separated bone marrow transplantation in adenosine deaminase deficiency-related severe immunodeficiency. 209 97

Histologic findings in mice with severe combined immunodeficiency (SCID) were remarkably uniform, consisting of lymphopenia, a rudimentary thymic medulla without cortex, relatively empty splenic follicles and lymph nodes, and undeveloped bronchial and gastrointestinal lymphocytic foci. Fluorescence-activated cell sorter studies revealed a few T cells (apparently nonfunctional) in thymus and spleen; interestingly, these cells seemed highly disposed to neoplasia, because thymic T-cell lymphomas were observed in 41 of 269 mice. No pre-B or B cells could be identified. Cells of the myeloid lineage appeared normal. Reconstitution of lymphoid tissues was achieved after intravenous injection of histocompatible bone marrow cells.
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PMID:Severe combined immunodeficiency (SCID) in the mouse. Pathology, reconstitution, neoplasms. 241 48

Cytomegalovirus (CMV) and Epstein-Barr virus (EBV), frequently found in the acquired immune deficiency syndrome (AIDS), have been suspected of contributing to the latter immunodeficiency. The ability of normal HLA-identical sibling bone marrow to reconstitute an 8-month-old infant with severe combined immunodeficiency infected with these two viral agents is of interest. After presentation with severe mucocutaneous candidiasis, cavitary pulmonary disease, nodular cutaneous lesions, and hepatic abscesses containing acid-fast organisms, immunologic studies revealed lymphopenia, 1-3% T cells, and no lymphocyte responses to mitogens. Prior to transplantation, the infant's blood B lymphocytes grew spontaneously in culture, suggesting they were infected with EBV. Indeed, an appropriate antibody response to EBV was detected at 2 months post-transplantation. At 3 weeks postgrafting, neutropenia and cholestatic jaundice developed without other signs of graft versus host disease. Liver biopsy demonstrated CMV but no EBV by DNA hybridization. There was evidence of T- and B-cell function by 2 weeks postgrafting, including vigorous in vivo and in vitro responses to candida. Although the blood lymphocyte T4:T8 ratio was inverted at 2 weeks, it reverted to normal by 6 weeks post-transplantation. All clinical disease resolved by 8 months and karotyping revealed all T and B lymphocytes to be XX. Thus, despite infections with both CMV and EBV, complete immunologic reconstitution was achieved in this, the most severe of all genetically determined immunodeficiency conditions, arguing against these viruses having a major role in the failure of bone marrow transplantation in AIDS.
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PMID:Successful immune reconstitution in severe combined immunodeficiency despite Epstein-Barr virus and cytomegalovirus infections. 298 Nov 67

We herein report five new cases of severe combined immunodeficiency with hypereosinophilia, the so-called familial reticuloendotheliosis first described by Omenn. It is characterized by erythroderma, polyadenopathy, hepatosplenomegaly, severe and repeated infections, protracted diarrhoea with failure to thrive. There is marked eosinophilia as well as a profound immunodeficiency. The immunologic abnormalities consist of an increase in T cell number, a B cell lymphopenia and a complete lack of humoral and cellular immune responses to antigens. A deficiency of lymphocytes 5'-nucleotidase has been inconstantly found. Histologic findings are characteristic, consisting of severe T and B lymphocyte depletion in lymphoid organs with infiltration by histiocytes and, to a lesser extent, eosinophils. The outcome was uniformly fatal within the first year of life. Treatment by a combination of parenteral nutrition, steroids and epipodophyllotoxin was effective in obtaining the complete remission of clinical manifestations due to the histiocytic and eosinophilic infiltration in two patients. However, the treatment failed to correct the immunologic defect. These results indicate that the histiocytic infiltration is possibly not responsible for the immunologic detect observed in this condition.
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PMID:[Severe combined immune deficiency with hypereosinophilia. Immunologic study of 5 cases]. 298 12

We report four cases of Omenn's syndrome (OS), an autosomal recessive disease characterized by early erythrodermia, protracted diarrhea, severe infections, lymphadenopathy, hepatosplenomegaly, failure to thrive, and leukocytosis with marked eosinophilia. The immunological investigations revealed B lymphopenia with increased levels of serum IgE and marked depression of T-cell activation, not restored by the addition of exogenous interleukin 2 (IL-2). IL-2 and interferon-gamma (IFN-gamma) production in vitro were very low or absent. One patient was treated with HLA-identical bone marrow transplant with a complete remission of the clinical picture and the immunological defect. The infant died of graft versus host disease 4 months after the graft. For the remaining three infants the outcome was also fatal within the first year of life. In conclusion, OS should be considered a severe combined immunodeficiency disease with peculiar clinical, immunological, and histological findings.
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PMID:Clinical and immunological findings in four infants with Omenn's syndrome: a form of severe combined immunodeficiency with phenotypically normal T cells, elevated IgE, and eosinophilia. 311 64

In the present study we evaluated the possibility that patients with severe combined immunodeficiency (SCID) might be deficient in lymphoid progenitor cells in bone marrow. Bone marrow from six patients with SCID was studied for the presence of cells expressing antigens associated with the earliest known stages of lymphopoiesis--terminal transferase (Tdt), the common acute lymphocytic leukemia antigen (CALLA), and p24. Four of six patients had detectable Tdt+, CALLA+, and p24+ cells, although they were quantitatively reduced compared to results from normal infant marrow. In two of six patients no bone marrow mononuclear cells expressing any of these markers were detected. These two patients were more lymphopenic than the other four SCID patients. The absence or deficiency of Tdt+, CALLA+, and p24+ bone marrow cells in some patients with SCID (two of six in the present study) is consistent with the lymphopenia seen in these patients and suggests that the underlying defects which result in SCID affect the production of immature as well as more differentiated lymphocytes.
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PMID:Lymphoid progenitor cells in severe combined immunodeficiency. 387 11

A severe combined immunodeficiency disorder was demonstrated in two Arabian foals which were full siblings. The defect in the B-lymphocyte system was shown by hypogammaglobulinemia, lymphopenia, and absence of germinal centers. The almost total absence of thymic tissue in one foal and the lack of thymic dependent lymphocytes in the spleens of both foals demonstrate a T-lymphocyte defect. In a retrospective study of total available Arabian foal cases, 4 of 15 had evidence of immunodeficiency.
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PMID:Hypogammaglobulinemia and thymic hypoplasia in horses: a primary combined immunodeficiency disorder. 419 58


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