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

A 24 year old male with a history of eczema, recurrent mild infections, and thrombocytopenia consistent with the Wiskott-Aldrich syndrome (WAS) presented with a mediastinal mass, generalized lymphadenopathy, splenomegaly, and severe thrombocytopenia. Studies of immune function including immunoglobulin levels and T-cell subsets were normal. Furthermore, his T lymphocytes proliferated normally in response to phytohemagglutinin, concanavalin A, and the combination of neuraminidase/galactose oxidase. However, their proliferative responses to anti-CD43 antibody and periodate were diminished, consistent with the clinical diagnosis of WAS. An initial inguinal lymph node biopsy surprisingly revealed Kaposi sarcoma. However, following splenectomy to increase the platelet count, biopsy of the mediastinal mass revealed T-cell large cell lymphoma. Studies of biopsied tissue for the presence of Epstein-Barr virus and cytomegalovirus were negative, as were studies of blood, including the polymerase chain reaction, for the presence of the human immunodeficiency virus (HIV). This is the first report of Kaposi sarcoma arising in a patient with a congenital immunodeficiency syndrome. Although Kaposi sarcoma can arise in the face of the severe immunosuppression that follows allograft transplantation and in patients infected with HIV, we postulate that longevity in the face of mild immunosuppression was the major factor in the development of Kaposi sarcoma in this patient.
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PMID:Coincident Kaposi sarcoma and T-cell lymphoma in a patient with the Wiskott-Aldrich syndrome. 131 18

The histopathologic investigation of children with congenital immunodeficiency, and its relation to functional parameters and clinical data have been a major contribution to the present knowledge on the histophysiologic aspects of normal immune system function. Based on thorough knowledge in histophysiologic and dynamic aspects of lymphoid organs, the histopathologic evaluation in cases of suspected immunodeficiency today forms an integral part of the assessment of the immune status. Apart from conventional histologic techniques, advanced technology such as immunohistochemistry and in situ hybridization is applied. This enables analysis of the basic cellular components in various lymphoid tissue compartments, and evaluation of the consequences of the deficiency by the assessment of microorganisms and neoplasia. This review focuses on the histopathologic contribution to immunodeficiency evaluation. Sections deal with (1) the description of alterations in the various lymphoid tissues (bone marrow, thymus, lymph node, spleen, and gastrointestinal tissue); (2) histopathology of infection and malignancy; (3) pathology of some types of congenital immunodeficiency; (4) histopathologic methods and reagents; and (5) an autopsy protocol for immunodeficiency.
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PMID:Pathology of congenital immunodeficiencies. 156 87

Evidence of an acquired T cell-specific deficiency distinct from acquired immunodeficiency syndrome (AIDS) in a 63-yr-old Japanese female is provided. Recently, this patients suffered from primary invasive pulmonary aspergillosis. Skin tests to purified protein derivative of tuberculin (PPD) and Aspergillus antigens were negative. Upon admission to our hospital, her lymphocytes were exclusively unresponsive to T cell mitogens (concanavalin A, phytohemagglutinin, and OKT 3). The level of cells defined by monoclonal antibodies (CD1, CD2, CD3, CD4, WT31, and CD5) was less than 3%. In contrast, no decrease in the number of red blood cells, platelets, neutrophils or B cells was apparent. Five years ago, the patient had a normal white blood cell and lymphocyte count. However, over the following 4 yr, she developed lymphopenia. With medication, her pulmonary disease recovered, while lymphopenia still continued. The levels of immunoglobulins, complements and enzyme activities (adenosine deaminase and purine nucleoside phosphorylase) were normal. Moreover, several tests for HIV (ELISA and Western bolt) were negative suggesting that the T cell-specific deficiency was not a congenital immunodeficiency or AIDS but rather a new type of acquired immunodeficiency.
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PMID:Acquired T cell specific deficiency other than acquired immunodeficiency syndrome (AIDS). 156 29

Many defense mechanisms are located in the respiratory tract, since they are constantly exposed to a variety of pathogens from both inside and outside the body. Among the various defense mechanisms, the immune system is so potent that immunodeficiency results in proneness to infections and repeated and/or intractable infection. It is not uncommon to encounter patients with congenital immunodeficiency in clinical practice because of recent advances in supportive therapy. This paper describes cases of primary immunodeficiency that developed respiratory infections, together with the results of investigations of their immune status. Doctors should suspect the possibility of immunodeficiency in patients with repeated or intractable respiratory infections. Intractable respiratory infections, however, have been seen with increasing frequency in the elderly because of the increase in the elderly population. One reasons for this is the physiologic immunodeficiency associated with aging, which is characterised by decreased antigen-induced lymphocyte proliferation, IL-2 production, IL-2R expression, hsp 70 mRNA production, and demethylation of T lymphocytes, and delayed degradation of c-myc mRNA.
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PMID:[Respiratory tract infection and immunodeficiency]. 175 97

Morphological examinations of 58 autopsy cases of visceral candidiasis in newborns were performed. Direct correlation between the severity of thymus lesions and the degree of changes in organs produced by candidiasis was observed. The most severe candidiasis was found in cases of congenital immunodeficiency. This suggests that the morphological features of candidiasis may be the manifestation of immunodeficiency state.
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PMID:[Morphologic manifestations of candidiasis in newborns with immunodeficiency]. 208 65

The definition of the congenital immunodeficiency syndrome (CIDS) is given. Structural alterations of the thymus in combination with zonal disturbances and cell composition of the peripheral lymph organs are main morphological manifestations of CIDS. The most reasonable classification of CIDS is that based on etiology and thus making necessary to reconsider the existing terminology with an exclusion of such terms as "primary" and "secondary" immunodeficiency. The crucial point in the CIDS pathogenesis is a time of structural disturbances resulting from the action of an altering factor on the immune system in ontogenesis. A list of diseases of the histiomonocytic system is given which can be used as a basis for developing the classification of CIDS of the above system as the most ancient element in the immune response in the phylo- and ontogenesis.
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PMID:[Congenital immunodeficiency syndromes]. 222 18

Hereditary multiple atresias involving the gastrointestinal tract from pylorus to rectum are the most unusual form of intestinal atresia; the type of inheritance was suggested to be autosomal recessive. The inheritance of the severe combined immunodeficiency syndrome can be autosomal recessive or X-linked. We report on 3 sibs with multiple-level intestinal atresias. One sib had severe combined immunodeficiency syndrome and clinical histories of the other 2 sibs strongly suggested a congenital immunodeficiency syndrome. The parents of those children were healthy and nonconsanguineous. To our knowledge, this is the first report of the association of multiple gastrointestinal atresias and immunodeficiency which appears to have an autosomal recessive pattern of transmission. Our family report suggests that, in the presence of multiple gastrointestinal atresias, attention should be given to possible associated immunological disorders.
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PMID:Severe combined immunodeficiency syndrome associated with autosomal recessive familial multiple gastrointestinal atresias: study of a family. 224 32

Human immunodeficiency virus (HIV) has been isolated from fetal tissues as early as 13 weeks and later from fetal blood. These findings have raised the possibility of prenatal diagnosis of infected fetuses by identification of the virus in the fetal compartment. Study of the fetal immune status has proved reliable in prenatal diagnosis of congenital immunodeficiency, and we have tested the possibility to diagnose acquired immunodeficiency in utero by this approach. We studied T lymphocyte subsets and their mitogenic response in fetal blood obtained after elective termination at midgestation in 8 cases and at delivery in 26 cases of maternal HIV infection. Results have been compared to appropriate normal controls. No significant difference was found in terms of total lymphocytes, CD4 and CD8 populations and phytohemagglutinin responses. This indicates either that immunological parameters currently used to assess postnatal immunodeficiency are not reliable during intrauterine life or that the intrauterine environment and the transplacental passage of maternal antibodies interfere with development of prenatal immunodeficiency.
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PMID:Prenatal immune status of fetuses of HIV-seropositive mothers. 233 9

Developmental defects interrupting the normal evolution of immunocytes can explain many of the congenital immunodeficiency syndromes. Observations accumulated during the last decade have, however, shown that this is not the only cause, and that many diseases have signs of immunodeficiency as an accompanying feature. Severe combined immunodeficiency (SCID) is a good example of the multiple etiology of similar clinical features--they are phenocopies of a well-delineated hereditary disease. A number of recently described syndromes are reviewed, albeit an incomplete list. Metabolic disorders due to inactivity of enzymes may present characteristic ID. Some of them are explained by lack or increased need of co-enzymes (like biotin or zinc). In other syndromes, better understanding of the pathogenesis might pin down the primary failure to one single point, as shown in the hyper IgE syndrome. Other fundamental disturbances are located in the chromosome itself, eg decreased repair capacity, deletion, translocation. An attempt is made to propose a general classification accommodating all etiologic factors known to date which lead to immunodeficiency. It is obvious that within this framework the same clinical syndrome may be repeated.
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PMID:Protean appearances of immunodeficiencies: syndromes and inborn errors involving other systems which express associated primary immunodeficiency. 636 Feb 43

Twenty six infants with a congenital immunodeficiency, characterised by failure of their sera to opsonise heat killed bakers' yeast for phagocytosis by normal polymorphonuclear leucocytes, were studied during infancy to determine the frequency of infection and development of atopy. They were compared with controls, matched prospectively for birth date, sex, parental smoking, and atopy and in whom feeding patterns were similar. In 18 of 26 infants the serum defect persisted at age one year. The incidence of infection and atopy, was appreciably greater in the study group than in controls. The 8 children in whom the defect was transient had a similar incidence of infection but a higher incidence of atopy than controls. Eight of 26 mothers and four of 9 fathers tested also had the serum defect, suggesting a strong genetic component. We support the hypothesis that immunodeficiency predisposes to infection and atopy, and that transient immunodeficiency predisposes to atopy.
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PMID:A common congenital immunodeficiency predisposing to infection and atopy in infancy. 663 28


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