Gene/Protein Disease Symptom Drug Enzyme Compound
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Query: UMLS:C0085110 (SCID)
 11,041 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

We have used lymphocyte stimulation in vitro to characterize the degree of cell-mediated immunodeficiency in different patients. The effect of treatment of patients with immunodeficiencies is illustrated by lymphocyte transformation in vitro before, during and after therapy (eg bone marrow transplantation of severe combined immunodeficiency and transfer factor treatment in Wiskott-Aldrich syndrome). The mixed lymphocyte culture test has been used for selection of bone marrow transplant donor for a patient with CID when an HL-A identical sib was not available. The results of the transplantation in this patient with graft from a donor who differed from the patient in respect of both HL-A haplotypes (but MLC identical with the patient) is reported. The MLC data on another family with 2 children with Nezelof disease are reported. The data indicate that one of the patients could be a chimera after intrauterine grafting of maternal immunocompetent cells.
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PMID:Lymphocyte transformation in vitro in patients with immunodeficiency diseases: use in diagnosis, histocompatibility testing and monitoring treatment. 5 99

Thirteen patients with primary immunodeficiencies (eight with T-cell deficiency, one with Wiskott-Aldrich (W-A) syndrome, two with common variable agammaglobulinemia (CVA), and two with severe combined immunodeficiency (SCID) were treated with a calf thymus extract, called thymostimulin (TS). It has been shown that this extract causes in vitro differentiation of T-cell precursors in patients with T-cell defect. Five of eight patients with pure T-cell defect showed immunologic recovery and clinical remission lasting for several months after interruption of the therapy; one had only transient reconstitution, one had slight increase in T-cells (clinical conditions not yet estimated), and two patients soon died from severe infections after showing a slight increase of T-cells. Immune recovery was assess by an increase of the absolute number of E-rosettes forming cells, of human T-lymphocyte antigen positive cells and of PHA responsiveness in the peripheral blood, and by a positive delayed hypersensitivity reaction to antigens. In five patients, there was also B-cell increase after TS treatment. Clinical remission consisted of disappearance of infections, weight gain, and in improvement in general conditions. No effect was observed in one patient with W-A syndrome, in two with CVA, and in two with SCID. Several hypotheses on the mechanisms involved in immune reconstitution are discussed. It seems likely that TS acts on prethymic cells or on the epithelial cells of hypoplastic thymuses. TS was not effective, either in vitro or in vivo, in patients with SCID probably because of a defect in stem cells.
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PMID:Immunologic and clinical investigation on a bovine thymic extract. Therapeutic applications in primary immunoedificiencies. 31 21

Human lymphoid cells that have been incubated with conditioned medium from confluent monolayers of human thymic epithelium (HTCM) show an increase in cells forming rosettes with sheep erythrocytes at 4 degrees C (E-rosettes). Those cells demonstrating this in vitro conversion have been interpreted to be T-cell precursors. Separation of human bone marrow cells on discontinuous bovine serum albumin (BSA) gradients, and on a single-step 23% BSA gradient showed enrichment of these T-precursor cells, not only in bone marrow, but also in human foetal liver cells. Bone marrow precursor cells from a patient with Wiskott-Aldrich syndrome (T-cell deficiency) showed a normal in vitro response to HTCM, but no response was seen in cells from a patient with severe combined immunodeficiency disease.
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PMID:Detection of T-precursor cells in human bone marrow and foetal liver. 108 10

Transfer factor is a dialyzable extract of sensitized leukocytes, which transfers reactivity from skin test-positive donors to skin test-negative recipients. Transfer factor supplied by our laboratory has been used therapeutically to induce cellular immunity in 78 patients around the world. Many patients received multiple doses of transfer factor ranging from 1 unit given every 6 months for 3 years to 1 unit every week for 6 months to as much as 8 units per week for a brief period. A total of 299 units of transfer factor have been given. Diseases in which transfer factor appeared to cause improvement include the Wiskott-Aldrich syndrome, severe combined immunodeficiency disease, mucocutaneous candidiasis, chronic active hepatitis, coccidioidmycosis, dysgammaglobulinemia, Behcet disease, aphthous stomatitis, linear morphea, familial keratoacanthoma and malignancy.
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PMID:Transfer factor II: results of therapy. 109 90

The morphology of lymphatic tissues in 43 autopsy cases of children with inherited immunodeficiency states were analysed. Among the more common diseases, such as Di-George-syndrome, CID-patients, congenital agammaglobulinemia Bruton, CVID, selective IG-A deficiency, Wiskott-Aldrich-syndrome, tissue sections of very rare conditions associated with immunodeficiency, e.g. fetopathia diabetica and leprechaunismus, were investigated by routine and immunohistochemical stainings. Clinical history and laboratory data, augmented by the characteristic pathomorphology of lymphatic tissue sections, will establish or at least suggest a definite diagnosis. Since true thymic dysplasia is very rare (or even non-existent) in the human, this term should be abandoned. Severe thymic tissue alterations in SCID-patients, occur secondary to enzyme defects in lymphatic cells. If patients are successfully treated by bone marrow transplantation, the thymus will subsequently develop into a functionally normal organ.
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PMID:[Morphological changes in the lymphatic system of children with hereditary immunologic deficiency syndromes]. 128 43

Seven forms of X-linked (XL) immunodeficiency have been described (XL agammaglobulinemia, XL severe combined immunodeficiency [SCID], Wiskott-Aldrich syndrome, XL chronic granulomatous disease, XL hyper-IgM syndrome with low IgG and IgA, and XL lymphoproliferative syndrome), and properdine deficiency. Although there are (some) phenotypic variants, diagnosis is relatively simple on the basis of clinical, immunological, and genetic characteristics. We studied a family in which several males were affected by severe infections and whose pedigree suggested recessive XL inheritance of an immunodeficiency. Immunologic and genetic studies (X inactivation patterns in females and restriction fragment length polymorphism [RFLP] segregation) were performed in order to characterize the immunodeficiency. The propositus, a 5-yr-old boy, was found to have a severe and progressive T- and B-cell functional immunodeficiency characterized by defective antigen-specific responses. No lymphocyte subsets or membrane anomalies were detected and the immunodeficiency did not correspond to usual XL forms. Studies of DNA from two of the informative females, the mother and one sister revealed nonrandom X chromosome inactivation of T cells and, partially, B cells but not PMN, a pattern similar to that observed in XL SCID carriers. RFLP studies identified a haplotype segregating with the abnormal locus that may be localized in the proximal part of the long arm of the X chromosome. We thus report the characterization of a new XL immunodeficiency that may correspond either to another XL locus or to an attenuated phenotype of XL SCID.
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PMID:Genetic study of a new X-linked recessive immunodeficiency syndrome. 134 96

Allogeneic bone marrow transplantation has been successfully utilized to correct the lymphoid and/or hematopoietic abnormalities characterizing a wide array of lethal genetic disorders. Examples include severe combined immunodeficiency, Wiskott-Aldrich syndrome, thalassemia major, sickle cell anemia, and several types of lysosomal storage diseases. Most marrow transplant recipients require preparation with myeloablative doses of chemotherapy, with or without additional radiation therapy, to ensure engraftment of allogeneic marrow. This approach has dramatically changed the long-term outlook for many children with otherwise lethal disorders.
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PMID:Bone marrow transplantation for genetic disorders. 153 45

Unrelated donor marrow transplantation was undertaken in eight infants with severe combined immunodeficiency (SCID) and two children each with Wiskott-Aldrich syndrome (WAS) and Chediak-Higashi syndrome (CHS) who did not have histocompatible siblings. Donors for three patients were phenotypically matched at all HLA-A, B, Dr, and Dw loci, whereas nine donors were mismatched from the recipients at one of the HLA-A or B loci but phenotypically identical at evaluable D loci. All but one patient received conditioning chemotherapy and/or radiotherapy before infusion of donor marrow, which was not T-cell depleted. Prophylaxis for graft-versus-host disease (GVHD) consisted of methotrexate and prednisone combined with either cyclosporine A (six patients), antithymocyte globulin (five patients), or anti-CD5 ricin A chain immunotoxin (one patient). All patients engrafted with donor cells, and only 4 of 12 experienced any GVHD (1 of 8 SCID, 1 of 2 WAS, 2 of 2 CHS). Two children who developed grade II and two who developed grade III GVHD were successfully treated and all are now alive, off immuno-suppressive therapy, with no evidence of chronic GVHD greater than 18 months after transplant. Ten patients are alive with excellent immunoreconstitution greater than or equal to 1 year to greater than or equal to 3 years after transplant; actuarial survival is predicted to be 83% with a median follow-up of 2 years. Two children with SCID succumbed to pre-existing opportunistic infection early posttransplant. We conclude that closely matched unrelated donor bone marrow transplantation can correct congenital immunodeficiencies including variants of SCID, WAS, and CHS, with an acceptably low incidence of transplant-related complications, principally GVHD.
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PMID:Unrelated donor bone marrow transplantation for correction of lethal congenital immunodeficiencies. 161 Oct 94

The association between cancer and immunodeficiency is well established. In common variable immunodeficiency (CVI), a primary immunodeficiency disease characterized by low serum immunoglobulins and poor antibody production, we previously reported a total of 13 cancers in 11 individuals arising in continuously observed group of patients. Of the 13, 7 were NHL and 1 was a myeloma which progressed to lymphoma. We report here the histologic, immunologic, cytogenetic, and clinical features of these 8 NHL along with 3 new lymphomas which have appeared in this group (now 117 patients). From our studies, the lymphomas which have arisen in CVI share certain features with the lymphomas which appear in the childhood immunodeficient syndromes. Wiskott Aldrich Syndrome, Ataxia Telangiectasia, or severe combined immunodeficiency: they are similar in overall frequency (13%), are often B-cell in origin, and extranodal in location. However, unlike the lymphomas of the immunodeficient child, lymphomas in CVI may be more differentiated and secrete immunoglobulin. For CVI patients with stage I or II disease, as for non-Hodgkin lymphomas in general, the prognosis is good. In our group, NHL in CVI have appeared most often in females of the 5th to 7th decade and not in childhood. Cytogenetic studies in lymphomas show that cytogenic abnormalities, including chromosomal translocation, can be found in this group, but more studies will be needed to assess the frequency of these events.
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PMID:Non-Hodgkin lymphoma in common variable immunodeficiency. 182 73

Optimal allogeneic bone marrow transplantation (BMT) presupposes the use of a HLA-identical sibling as donor. Unfortunately, only about 30% of patients have an HLA-matched donor, so that the use of alternative donors has been increasingly used. We report an analysis of 13 children transplanted using an HLA-partially matched donor as source of haemopoietic stem cells. They suffered of ALL (3 pts), ANLL (1 pt), SAA (2 pts), Osteopetrosis (1 pt), Wiskott-Aldrich Syndrome (2 pts), Severe Combined Immunodeficiency Disease (2 pts) and Familial Haemophagocitic Lymphohistiocytosis (2 pts). Full engraftment was obtained in all 11 of the patients who survived longer than 14 days and, globally, a moderate incidence of acute GvHD (grade II-IV) was observed in the evaluable patients (3 out of 11 with a percentage of 27%); only a patient of the six survivors more than one hundred days after BMT had severe chronic GvHD (16.6%). Four pts (31%) are actually alive and well (mean follow-up 358 days) with a mean Karnofsky score of 95%. Our data suggest that BMT from HLA-partially matched donors could represent a possible alternative therapeutic strategy in children when a compatible donor is not available. This is especially due to the reduced severity of GvHD in childhood and because of T-cell depleted marrow transplants could obtain more satisfactory results when employed in typical pediatric non-malignant disorders (i.e. immunodeficiencies) rather than in leukemia.
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PMID:Allogeneic bone marrow transplantation in children from other than HLA-identical sibling donor. 185 74


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