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

Primary immunodeficiency diseases comprise a genetically heterogeneous group of disorders that affect distinct components of the innate and adaptive immune system, such as neutrophils, macrophages, dendritic cells, complement proteins and natural killer cells, as well as T and B lymphocytes. The study of these diseases has provided essential insights into the functioning of the immune system. Primary immunodeficiency diseases have been linked to over 120 different genes, abnormalities in which account for approximately 180 different forms of these diseases. Patients with primary immunodeficiency diseases are most often recognized because of their increased susceptibility to infections. However, these patients can also present with a variety of other manifestations, such as autoimmune diseases, inflammatory diseases and cancer. The purpose of this article is to update the main aspects of primary immunodeficiency diseases, especially regarding the clinical manifestations related to the diagnosis, emphasizing the need for the early recognition of warning signs for these diseases.
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PMID:Primary immunodeficiency diseases: relevant aspects for pulmonologists. 1991 34

Primary immunodeficiency diseases (PIDs) are genetically determined disorders of the immune system resulting in greatly enhanced susceptibility to infectious disease, autoimmunity and malignancy. While individual PIDs are rare, as a group, it is estimated that between 1:2000 and 1:10 000 live births are affected by a PID. Moreover, PIDs can present at any age from birth to adulthood, posing a considerable challenge for the practising physician to know when and how to work-up a patient for a possible immune defect. In this review, we outline the basic organisation of the human immune system and the types of infections that occur when elements of the immune system are dysfunctional. Importantly, we provide practical guidelines for identifying patients who should be referred for assessment of possible immunodeficiency and an overview of screening investigations and effective therapeutic options available for these patients.
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PMID:Primary immunodeficiency diseases: a practical guide for clinicians. 2007 4

Primary immunodeficiency disease (PID) is a rare disorder in adults. Most often, serious forms are detected during infancy or childhood. However, mild forms of PID may not be diagnosed until later in life, and some types of humoral immunodeficiency may occur in adulthood. The purpose of this study was to identify clinical features of PID in Korean adults. A retrospective study was performed on 55 adult patients who were diagnosed as PID between January 1998 and January 2009 at a single tertiary medical center in Korea. IgG subclass deficiency was the most common phenotype (67%, 37/55), followed by total IgG deficiency (20%, 11/55), IgM deficiency (7%, 4/55), common variable immunodeficiency (2%, 1/55), and X-linked agammaglobulinemia (2%, 1/55). IgG3 and IgG4 were the most affected subclasses. Upper and lower respiratory tract infections (76%) were the most frequently observed symptoms, followed by multiple site infection (11%), urinary tract infection, and colitis. Bronchial asthma, rhinitis, and several autoimmune diseases were common associated diseases. IgG and IgG subclass deficiency should be considered in adult patients presenting with recurrent upper and lower respiratory infections, particularly in those with respiratory allergies or autoimmune diseases.
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PMID:Immunoglobulin G subclass deficiency is the major phenotype of primary immunodeficiency in a Korean adult cohort. 2051

V(D)J recombination and class switch recombination are achieved by the cooperative processes of recombination activation gene- or activation-induced cytidine deaminase-dependent DNA cleaving, DNA double-strand break (DSB) response signaling, and DNA repair. Primary immunodeficiency due to dysfunctional DNA recombination can be categorized as severe combined immunodeficiency or other conditions, based on the presence or absence of T cells. We can also classify these diseases as radiosensitive or non-radiosensitive immunodeficiencies. While diseases unable to trigger DNA cleavage do not exhibit radiosensitivity, dysfunction in DSB response signaling or repair does lead to radiosensitive immunodeficiency. Recent studies have begun to clarify the mechanisms underlying the molecular pathogenesis of such DNA DSB-related primary immunodeficiency.
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PMID:Abnormalities in DNA double-strand break response beyond primary immunodeficiency. 2147 81

Primary immunodeficiency diseases (PIDs) are presenting the most common in childhood. PID are genetically determined disorders of the immune system resulting in greatly enhanced susceptibility to infectious disease. Therapy in these group of patients preventing infectious diseases is immunoglobulin (Ig) replacement therapy. Nowadays the quality of life is very important issue which doctors should consider treating their patients. The subcutaneous immunoglobulins appears to be the best solution for them. Treating patients with subcutaneous Ig require good educational programme not only for patients but also for doctors and nurses. We would like to provide practical guidelines for identifying patients who should be referred for assessment of possible immunodeficiency and give some practical instructions how to start and follow-up subcutaneous therapy in all centers of immunology in Poland who are engaged in this kind of treatment.
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PMID:[Educational program for doctors and nurses taking care for primary immunodeficiency patients treated with subcutaneous immunoglobulins]. 2175 58

Primary immunodeficiency diseases (PIDs) are a group of rare diseases with wide geographic and ethnic variations in incidence, prevalence, and distribution patterns. The aim of this study was to examine the distribution pattern and clinical spectrum of PIDs in Taiwan at a national referral institute. From 1985 to 2010, 215 patients from 183 families were diagnosed and grouped according to the updated classification of PIDs. Eighty-one (37.7%) patients had "other well-defined immunodeficiency syndromes", followed by "predominantly antibody deficiencies" (54 patients; 25.1%), "T- and B-cell immunodeficiencies" (34; 15.8%), "congenital defects of phagocytes" (25; 20.2%), "complement deficiencies" (15; 7.0%), and "disease in immune dysregulation" (5; 2.3%). The last category included two patients with Chediak-Higashi syndrome, and one each with familial hemophagocytosis, IPEX, and hypogammaglobulinemia and albinism. One female had cold-induced auto-inflammatory disease. There were no cases of "defects in innate immunity". Pseudomonas and Streptococcus pneumoniae were the two most identified microorganisms in septicemia (42.7%; 44/103 episodes). Stem cell transplantation was successful in 13 of 22 patients, while 34 patients (15.8%) died. Molecular defects were identified in 109 individuals (from 90 families). There were relatively fewer cases of "predominantly antibody deficiencies" due to there being only a few patients with adult-onset PIDs, implying certainty bias rather than ethnic variation. Awareness of under-diagnosis among physicians rather than pediatricians is vital for timely diagnosis and consequently adequate treatment.
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PMID:Distribution, clinical features and treatment in Taiwanese patients with symptomatic primary immunodeficiency diseases (PIDs) in a nationwide population-based study during 1985-2010. 2178 77

Primary immunodeficiency diseases (PID) are a heterogeneous group of inherited disorders of the immune system, predisposing individuals to recurrent infections, allergy, autoimmunity, and malignancies. A considerable number of these conditions have been found to be also associated with neurologic signs and symptoms. These manifestations are considered core features of some immunodeficiency syndromes, such as ataxia-telangiectasia and purine nucleoside phosphorylase deficiency, or occur less prominently in some others. Diverse pathological mechanisms including defective responses to DNA damage, metabolic errors, and autoimmune phenomena have been associated with neurologic abnormalities; however, several issues remain to be elucidated. Greater awareness of these associated features and gaining a better understanding of the contributing mechanisms will lead to prompt diagnosis and treatment and possibly development of novel preventive and therapeutic strategies. In this review, we aim to provide a brief description of the clinical and genetic characteristics of PID associated with neurologic complications.
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PMID:Primary immunodeficiency diseases associated with neurologic manifestations. 2203 77

Primary immunodeficiency disorder (PID) refers to a heterogeneous group of over 130 disorders that result from defects in immune system development and/or function. PIDs are broadly classified as disorders of adaptive immunity (i.e., T-cell, B-cell or combined immunodeficiencies) or of innate immunity (e.g., phagocyte and complement disorders). Although the clinical manifestations of PIDs are highly variable, most disorders involve at least an increased susceptibility to infection. Early diagnosis and treatment are imperative for preventing significant disease-associated morbidity and, therefore, consultation with a clinical immunologist is essential. PIDs should be suspected in patients with: recurrent sinus or ear infections or pneumonias within a 1 year period; failure to thrive; poor response to prolonged use of antibiotics; persistent thrush or skin abscesses; or a family history of PID. Patients with multiple autoimmune diseases should also be evaluated. Diagnostic testing often involves lymphocyte proliferation assays, flow cytometry, measurement of serum immunoglobulin (Ig) levels, assessment of serum specific antibody titers in response to vaccine antigens, neutrophil function assays, stimulation assays for cytokine responses, and complement studies. The treatment of PIDs is complex and generally requires both supportive and definitive strategies. Ig replacement therapy is the mainstay of therapy for B-cell disorders, and is also an important supportive treatment for many patients with combined immunodeficiency disorders. The heterogeneous group of disorders involving the T-cell arm of the adaptive system, such as severe combined immunodeficiency (SCID), require immune reconstitution as soon as possible. The treatment of innate immunodeficiency disorders varies depending on the type of defect, but may involve antifungal and antibiotic prophylaxis, cytokine replacement, vaccinations and bone marrow transplantation. This article provides a detailed overview of the major categories of PIDs and strategies for the appropriate diagnosis and management of these rare disorders.
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PMID:Primary immunodeficiency. 2216 13

Primary immunodeficiency diseases include more than 150 different genetic defects, classified on the basis of the mutations or physiological defects involved. The first immune defects to be well recognized were those of adaptive immunity affecting B cell function and resulting in hypogammaglobulinemia and defects of specific antibody production; more recently, novel defects of innate immunity have been described, some involving Toll-like receptors (TLRs) and their signaling pathways. Furthermore, it is increasingly evident that the innate and adaptive pathways intersect and reinforce each other. B cells express a number of TLRs, which when activated lead to cell activation, up-regulation of co-stimulatory molecules, secretion of cytokines, up-regulation of recombination enzymes, isotype switch and immune globulin production. TLR activation of antigen presenting cells leads to heightened cytokine production, providing additional stimuli for B cell development and maturation. Recent studies have demonstrated that patients with common variable immunodeficiency (CVID) and X-linked agammaglobulinemia (XLA) have altered TLR responsiveness. We review TLR defects in these disorders of B cell development, and discuss how B cell gene defects may modulate TLR signaling.
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PMID:Toll-like receptor function in primary B cell defects. 2220 2

Primary immunodeficiency with granulomatosis in the adulthood mainly concern common variable immunodeficiency (CVID). Hypogammaglobulinemia in the adulthood is usually related to a secondary immunodeficiency. When a patient presents with the association of a hypogammaglobulinemia and a granulomatosis, an opportunistic infection must first be ruled out. For unknown reasons, about 10% of the patients affected by CVID also present with granulomatosis. Lesions usually affect the pulmonary tract or the mediastinum. Half of these patients are also affected by an autoimmune cytopenia. Treatment is not codified. Severe pulmonary complications can occur in about 50% of the patients.
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PMID:[Granulomatosis and primary immunodeficiency in adulthood]. 2242 32


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