Gene/Protein Disease Symptom Drug Enzyme Compound
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Query: UMLS:C0021051 (immunodeficiency)
 71,517 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

Patients with primary disorders of B lymphocytes and immunoglobulins usually display increased susceptibility to bacterial infections but atopic, autoimmune, and malignant disorders are also more common in these patients. The spectrum of these disorders ranges from a virtual absence of B cells and immunoglobulins to selective deficiencies of immunoglobulin subclasses. The diagnosis is dependent upon the demonstration of the immunologic deficits by specialized laboratory procedures which include the quantitation of immunoglobulins, the formation of antibodies in vivo and in vitro and the demonstration of B cells in the tissues or the peripheral blood. There are five major points in the management of these patients: (1) the delineation of the immunologic defects by laboratory testing, (2) the use of parenterally injected human immunoglobulins, (3) the rapid identification of infecting organisms and the prompt institution of appropriate antibiotic therapy, (4) screening the family for immunodeficiency in those cases which are of genetic origin, and (5) genetic counseling.
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PMID:Primary deficiencies in humoral immunity. 32 2

T cell immunodeficiency can occur as one of a group of primary disorders or develop secondary to chronic infection, illness or drug therapy. Primary T cell disorders are rare, accounting for approximately 11% of reported primary immunodeficiencies, and generally present in infancy or early childhood. Early recognition is very important as many of these patients will require bone marrow transplantation prior to the onset of severe infection or other complications. Because of their rarity, these infants usually present to clinicians who have little or no prior experience of these conditions, and therefore laboratory-based clinicians with knowledge of the key laboratory/pathological abnormalities and clinical features have a valuable role in identifying the possibility of immunodeficiency. Secondary T cell deficiency is a cardinal feature of HIV infection and the specific susceptibility to infectious micro-organisms is highlighted. The possibility of T cell immunodeficiency should be considered in any patient presenting with unusual or severe viral, fungal or protozoal infection.
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PMID:T cell immunodeficiency. 1875 23

Antibody deficiencies may arise as primary disorders or secondary to a variety of diseases, drugs and other environmental/iatrogenic factors. Significant primary antibody deficiencies are relatively rare but, collectively, account for the majority of primary immunodeficiency syndromes encountered in clinical practice. The genetic basis of a number of primary deficiencies has been clarified, although there is considerable genotype/phenotype heterogeneity and the role of gene/environment interactions has yet to be fully elucidated. Primary antibody deficiency can present at any age. The hallmark clinical presentation is recurrent bacterial infection, but these disorders are also associated with a wide variety of other infectious and non-infectious complications and with a high incidence of chronic, structural tissue damage, particularly in the respiratory tract. Clinical recognition of primary antibody deficiency is frequently delayed with consequent increased morbidity, diminished quality of life and early mortality. Clinical laboratories can contribute to improved and timely detection through awareness of routine test results which may be overtly or indirectly suggestive of antibody deficiency. Secondary deficiency is associated with increased awareness, better recognition and earlier diagnosis than in primary disorders. Early liaison and referral of patients with suspected antibody deficiency for specialist opinion and prompt, appropriate therapy is central to the achievement of good clinical outcomes.
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PMID:Antibody deficiency. 1875 24

Managing hematologic disorders in developing countries poses problems not encountered in Western societies. The clinical features of hematologic conditions may be modified by malnutrition, chronic bacterial infection, or parasitic illness. Iron deficiency is the major factor in anemia worldwide. Anemia is more common in the wet season when malaria transmission peaks. After anemia, eosinophilia is the next most common hematologic abnormality in children in the tropics. Infection with the human immunodeficiency virus can cause hematologic abnormalities. The pattern of distribution of primary disorders of the blood varies among populations and some disorders are unique to certain parts of the world.
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PMID:Introduction: The Complexity and Challenge of Preventing, Treating, and Managing Blood Diseases in the Developing Countries. 2704 Sep 54