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)

Systemic conditions and habits influence dental implant survival to varying degrees. Illnesses that impair the normal healing cascade worsen surgical success. The mere presence of a disease, however, does not necessarily preclude implant therapy or affect significantly long-term outcomes. Certain disorders, when controlled, or other situations allow implant survival rates that match those in health. This paper reviews these relative contraindications, which include adolescence, aging, osteoporosis, smoking, diabetes, positive interleukin-1 genotype, human immunodeficiency virus positivity, cardiovascular disease, and hypothyroidism.
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PMID:Medical contraindications to implant therapy: Part II: Relative contraindications. 1735 68

Some patients with immunodeficiency develop clinical features of autoimmune disorders. A previously asymptomatic antibody deficiency can underlie the development of autoimmune diseases and a severe course of infection, with a risk of sepsis; such cases are known in selective IgA deficiency. On the other hand, little information is available on selective IgG subclass deficiencies. An unexpectedly severe course of Campylobacter infection in a 19-year-old woman with a previously undiagnosed complex immune disorder, including selective IgG1 immunodeficiency, Hashimoto's autoimmune thyroiditis with hypothyroidism combined with Addison's disease presumably due to autoimmune adrenalitis, autoimmunity and allergy is described. The pathophysiological mechanisms of autoimmunity in latent humoral defects are discussed.
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PMID:Campylobacter sepsis with multiple organ failure in IgG subclass deficiency. 1745 98

Abnormal thyroid function test results are common among human immunodeficiency virus (HIV)-infected patients. Although the prevalence of overt thyroid disease does not appear to be significantly increased in HIV-infected patients, compared with the general population, specific patterns of abnormal thyroid function test findings are more frequently identified among HIV-infected patients. Among patients with advanced acquired immunodeficiency syndrome, nonthyroidal illness (i.e., euthyroid sick syndrome) is common. During antiretroviral therapy, the prevalence of 2 generally asymptomatic conditions (subclinical hypothyroidism, which is characterized by isolated elevated thyroid-stimulating hormone levels, and isolated low free thyroxine levels) is increased. In addition, Graves disease, which is marked by low thyroid-stimulating hormone and elevated thyroxine levels, may occur during immune reconstitution. Testing for thyroid disease among symptomatic patients should begin with measurement of the thyroid-stimulating hormone level. However, there is insufficient evidence to recommend routine thyroid screening of asymptomatic HIV-infected individuals. This review summarizes the current evidence regarding the optimal laboratory evaluation of thyroid function; highlights the causes, presentation, and treatment of thyroid dysfunction in HIV-infected patients; and discusses the controversies regarding screening.
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PMID:Thyroid function abnormalities in HIV-infected patients. 1763 1

The authors review the epidemiology, clinical manifestations, diagnosis and treatment of Pneumocystis jiroveci thyroiditis of 15 cases reported in the medical literature. Patients with acquired immunodeficiency disease syndrome were particularly at risk. P. jiroveci thyroiditis was diagnosed at autopsy as a part of disseminated infection in a substantial number of patients without clinical manifestations and laboratory evidence of thyroid dysfunction. Local signs and symptoms of infection were indistinguishable from other infectious thyroiditis and included neck enlargement with or without cervical pain, sometimes associated with dysphagia and dysphonia, and clinical and laboratory features of hypothyroidism. Antemortem diagnosis of fungal thyroiditis was made by direct microscopy and culture of a fine-needle aspirate in most cases. As most patients with P. jiroveci thyroiditis had disseminated Pneumocystis infection with a delay in diagnosis and treatment, the overall mortality was high. Pneumocystis jiroveci thyroiditis is rare but should be suspected in HIV-infected patients with CD4 count lower than 200 cells micro(-1) on prophylatic inhalatory pentamidine who present with neck enlargement with or without pain, and clinical and laboratory evidence of hypothyroidism.
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PMID:Pneumocystis jiroveci thyroiditis: report of 15 cases in the literature. 1794 3

Chronic mucocutaneous candidiasis is a primary immunodeficiency characterized by persistent or recurrent candidal infections of the skin, nails and/or mucosal tissues. CMC can be associated with endocrinopathies such as hypoparathyroidism, Addison's disease, hypothyroidism, type 1 diabetes mellitus or hypogonadism. Other associated conditions include autoimmune diseases such as autoimmune gastritis and autoimmune hepatitis. We report a patient with CMC and decreased T cell, natural killer cells without other associated condition.
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PMID:[Chronic mucocutaneous candidiasis: Case report]. 2046 98

The transmission of human immunodeficiency virus (HIV) through transplantation of human tissues and organs is rare but not impossible. A 27-year-old Bulgarian woman received a kidney transplant from a cadaveric donor owing to chronic renal failure due to glomerulonephritis of unknown etiology. Five days after the donation, the tissues showed HIV-1 infection, so she was immediately initiated on highly active antiretroviral therapy (HAART) with lopinavir/ritonavir, zidovudine, enfuvirtide, and lamivudine. Subsequently, according to the genotypic test which revealed a complex resistance pattern of the HIV-1, we changed the regimen to darunavir/ritonavir, etravirine, lamivudine, and enfuvirtide. The HIV-1 genome (550 UI/mL), which was detected at 5 days after transplantation, rapidly declined to undetectable levels at 3 weeks after HAART. The CD4+ T-cell nadir was 432 cells/microL (40%) to 1,400 cells/microL after 2 years. The posttransplantation course was complicated by cytomegalovirus pneumonia. At 32 months after transplantation, the patient had experienced hypertension with secondary retinopathy, bilateral cataracts, diabetes, hypothyroidism, osteoporosis with multiple vertebral fractures, a hip prosthesis, and a bone infarction of the femur. Major management problems had been related to steroid and HAART treatment side effects. Therapeutic interactions between the immunosuppressants and the antiretroviral drugs were complex for management, requiring frequent checks of drug levels and dose-adjustments. We finally obtained a stable clinical and viroimmunologic condition. The transmission of multiresistant strains of HIV from unknown patients requires complex multidisciplinary management.
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PMID:Case report: HIV infection from a kidney transplant. 2069 60

We report the case of a 56-year-old man with the rare autoimmune pathologies of alternating hypothyroidism and hyperthyroidism due to thyroid-stimulating hormone receptor antibodies, and rheumatoid arthritis as manifestations of a human immunodeficiency virus-related immune reconstitution inflammatory syndrome. The patient also developed overt progression of a pre-existing skin malignancy that may also be related. This case highlights immune reconstitution syndrome as an important differential diagnosis following antiretroviral therapy commencement, and that a high index of suspicion should be maintained for this rare but important cluster of conditions. Furthermore, the patient's genetic predisposition to autoimmunity provides helpful insights into the pathogenesis of these disorders.
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PMID:Immune reconstitution inflammatory syndrome manifesting as development of multiple autoimmune disorders and skin cancer progression. 2189 84

Ethionamide (ETH) treatment may cause hypothyroidism. Clinical data, serum thyroid stimulating hormone (TSH) and free thyroxine (fT4) levels were retrospectively assessed in 137 children receiving anti-tuberculosis treatment including ETH. Abnormal thyroid function tests (TFTs) were recorded in 79 (58%) children: elevated serum TSH and suppressed fT4 (n = 30), isolated elevated serum TSH (n = 20), isolated low serum fT4 (n = 28) and isolated low TSH (n = 1). The risk for biochemical hypothyroidism was higher for children on regimens including para-aminosalicylic acid and in human immunodeficiency virus infected children. TFT abnormalities are frequent in children on ETH and are mainly due to primary hypothyroidism or euthyroid sick syndrome.
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PMID:Abnormal thyroid function tests in children on ethionamide treatment. 2194 44

Adenosine acts as anti-inflammatory mediator on the immune system and has been described in regulatory T cell (Treg)-mediated suppression. In the absence of adenosine deaminase (ADA), adenosine and other purine metabolites accumulate, leading to severe immunodeficiency with recurrent infections (ADA-SCID). Particularly ADA-deficient patients with late-onset forms and after enzyme replacement therapy (PEG-ADA) are known to manifest immune dysregulation. Herein we provide evidence that alterations in the purine metabolism interfere with Treg function, thereby contributing to autoimmune manifestations in ADA deficiency. Tregs isolated from PEG-ADA-treated patients are reduced in number and show decreased suppressive activity, whereas they are corrected after gene therapy. Untreated murine ADA(-/-) Tregs show alterations in the plasma membrane CD39/CD73 ectonucleotidase machinery and limited suppressive activity via extracellular adenosine. PEG-ADA-treated mice developed multiple autoantibodies and hypothyroidism in contrast to mice treated with bone marrow transplantation or gene therapy. Tregs isolated from PEG-ADA-treated mice lacked suppressive activity, suggesting that this treatment interferes with Treg functionality. The alterations in the CD39/CD73 adenosinergic machinery and loss of function in ADA-deficient Tregs provide new insights into a predisposition to autoimmunity and the underlying mechanisms causing defective peripheral tolerance in ADA-SCID.
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PMID:Alterations in the adenosine metabolism and CD39/CD73 adenosinergic machinery cause loss of Treg cell function and autoimmunity in ADA-deficient SCID. 2218 7

Immune dysregulation, polyendocrinopathy, enteropathy, X-linked (IPEX) syndrome is a rare monogenic primary immunodeficiency (PID) due to mutations of FOXP3, a key transcription factor for naturally occurring (n) regulatory T (Treg) cells. The dysfunction of Treg cells is the main pathogenic event leading to the multi-organ autoimmunity that characterizes IPEX syndrome, a paradigm of genetically determined PID with autoimmunity. IPEX has a severe early onset and can become rapidly fatal within the first year of life regardless of the type and site of the mutation. The initial presenting symptoms are severe enteritis and/or type-1 diabetes mellitus, alone or in combination with eczema and elevated serum IgE. Other autoimmune symptoms, such as hypothyroidism, cytopenia, hepatitis, nephropathy, arthritis, and alopecia can develop in patients who survive the initial acute phase. The current therapeutic options for IPEX patients are limited. Supportive and replacement therapies combined with pharmacological immunosuppression are required to control symptoms at onset. However, these procedures can allow only a reduction of the clinical manifestations without a permanent control of the disease. The only known effective cure for IPEX syndrome is hematopoietic stem cell transplantation, but it is always limited by the availability of a suitable donor and the lack of specific guidelines for bone marrow transplant in the context of this disease. This review aims to summarize the clinical histories and genomic mutations of the IPEX patients described in the literature to date. We will focus on the clinical and immunological features that allow differential diagnosis of IPEX syndrome and distinguish it from other PID with autoimmunity. The efficacy of the current therapies will be reviewed, and possible innovative approaches, based on the latest highlights of the pathogenesis to treat this severe primary autoimmune disease of childhood, will be discussed.
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PMID:Immune dysregulation, polyendocrinopathy, enteropathy, x-linked syndrome: a paradigm of immunodeficiency with autoimmunity. 2306 Aug 72


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