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)

Hyper-IgE syndrome (HIES) is a primary immunodeficiency characterized by recurrent skin abscesses, recurrent pneumonia with pneumatocele formation, eczema, eosinophilia, and elevated levels of serum IgE. Patients with the autosomal recessive (AR) form of HIES appear to be prone to developing autoimmune diseases. We present two cases of HIES with autoimmune complications; one case was a product of a consanguineous marriage, the other one was a sporadic case. The first patient presented with recurrent episodes of erythema nodosum, warts, bronchiolitis obliterans and thrombocytopenia. The second patient developed glomerulonephritis resulting in endstage renal failure. She later developed malar rash, oral ulcers, cerebral infarcts with vasculitis and positive ANA, anti-dsDNA, and antiphospholipid antibodies. We discuss the dilemma in treating patients who present with both primary immunodeficiency and autoimmunity.
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PMID:Hyper-IgE syndrome and autoimmunity in Mexican children. 1679 2

The pruritic, papular eruption of human immunodeficiency virus with associated peripheral eosinophilia is well documented. We describe a 32-year-old African American man with advanced acquired immunodeficiency syndrome; a generalized painful, pruritic, papular rash; peripheral blood eosinophilia; and perineural eosinophilic infiltrates with eosinophilic panniculitis. To our knowledge, the latter 2 features have not been previously described in the literature on human immunodeficiency virus dermatoses. We propose that eosinophilic neuritis and eosinophilic panniculitis may represent additional findings in the spectrum of cutaneous disease seen in patients with advanced acquired immunodeficiency syndrome.
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PMID:Eosinophilic neuritis and eosinophilic panniculitis in a patient with advanced acquired immunodeficiency syndrome. 1683 Oct 33

We tested the hypothesis that helminth parasite coinfection would intensify viremia and accelerate disease progression in monkeys chronically infected with an R5 simian-human immunodeficiency virus (SHIV) encoding a human immunodeficiency virus type 1 (HIV-1) clade C envelope. Fifteen rhesus monkeys with stable SHIV-1157ip infection were enrolled into a prospective, randomized trial. These seropositive animals had undetectable viral RNA and no signs of immunodeficiency. Seven animals served as virus-only controls; eight animals were exposed to Schistosoma mansoni cercariae. From week 5 after parasite exposure onward, coinfected animals shed eggs in their feces, developed eosinophilia, and had significantly higher mRNA expression of the T-helper type 2 cytokine interleukin-4 (P = 0.001) than animals without schistosomiasis. Compared to virus-only controls, viral replication was significantly increased in coinfected monkeys (P = 0.012), and the percentage of their CD4(+) CD29(+) memory cells decreased over time (P = 0.05). Thus, S. mansoni coinfection significantly increased viral replication and induced T-cell subset alterations in monkeys with chronic SHIV clade C infection.
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PMID:Coinfection with Schistosoma mansoni reactivates viremia in rhesus macaques with chronic simian-human immunodeficiency virus clade C infection. 1728 92

Hyperimmunoglobulin-E syndrome (HIES) is a rare immunodeficiency disorder that is characterized by elevated serum concentration of IgE, eosinophilia and severe, recurrent bacterial and fungal infections. Poor regulation of immune system is evident, with decreased production of cytokines, especially interferon. Production of specific antibodies to capsular polysaccharide antigens is decreased Skeletal malformations have been reported in these patients. They can be caused by excessive production of interleukin-4, which may lead to pathologic bony tissue resorption. Due to immune system deficiency and malformations of skeletal and connective tissue, HIES is a multisystem disorder. We present a patient with recurrent bacterial infections since the early age. At the age of two years he presented with severe destructive staphylococcal pneumonia with pleural effusion, pneumatocela formation and pneumothorax. The patient also had a dysmorphic face and skeletal malformations that were most evident at the head. The diagnosis of HIES was made on the basis of elevated serum concentrations of IgE, hypereosinophily, and decreased leukocyte function in vivo and in vitro. Family history of our patient showed an autosomal-dominant inheritance pattern of HIES.
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PMID:Destructive staphylococcal pleuropneumonia in a two-year-old boy with hyperimmunoglobulin-E syndrome. 1825 11

Bullous pemphigoid is an acquired immunobullous disorder affecting predominantly the elderly. It is very rare in children and exceptional in infants. Hyperimmunoglobulin E syndrome is a rare primary immunodeficiency characterized by a triad of high serum levels of polyclonal immunoglobulin E with peripheral eosinophilia, recurrent staphylococcal infections of the skin and lungs, and pruritic dermatitis. Variable associated features include coarse facies, cold cutaneous abscesses, and osteopenia. This report describes, to the best of my knowledge, the first instance of childhood bullous pemphigoid associated with hyperimmunoglobulin E syndrome in a 6-month-old boy.
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PMID:Childhood bullous pemphigoid in association with hyperimmunoglobulin E syndrome. 1830 49

Feline foamy virus (FFV) is a retrovirus commonly found in cats. It is generally thought to be apathogenic, making it a suitable candidate as a gene therapy vector. However, there have been reports of association of FFV with chronic progressive arthritis and a cofactor effect with feline immunodeficiency virus. This study investigated experimental FFV infection and whether this was associated with signs of disease. Eight young specific pathogen free cats were inoculated intramuscularly with FFV. The cats were examined twice weekly and blood and pharyngeal samples were taken. Haematology, biochemistry and FFV quantitative polymerase chain reaction (qPCR) were performed. Tissue samples were also collected throughout the six month period. FFV was initially detected by qPCR in the blood within the first two weeks of infection and viraemia persisted throughout the study. Two peaks of viraemia were observed, at day 20 (80-170FFU/ml blood) and day 155 (332-415FFU/ml blood). FFV was also consistently detected in oropharyngeal samples after day 36. Anti-FFV IgG was detected in all cats by ELISA; antibody levels had an early peak around day 35 and then increased again following the second rise in circulating viral load. All cats remained clinically normal, except for one cat with an unrelated gingivitis. None of the cats developed pyrexia. The biochemical profile and blood cell counts remained within normal limits except for one cat with a persistent eosinophilia. Initial fluctuations in white cell counts settled within three weeks and did not deviate outside of the normal ranges. All tissue samples contained FFV DNA; lymphoreticular tissues, salivary gland and lung had the highest viral loads. Although there were no gross pathological lesions on post mortem examination, histologically a mild glomerulonephritis and a moderate interstitial pneumonia were observed in all cats. We conclude that during the six month period of infection, although cats appeared clinically normal, histopathological changes were observed in the lungs and kidneys. Further investigation of the significance of these changes is warranted before FFV is developed as a vector for gene delivery.
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PMID:Is feline foamy virus really apathogenic? 1834 75

Exfoliative dermatitis and erythroderma in infancy are rare. Clinicians need to be alert to the possible diagnosis of Omenn's syndrome (OS), a rare form of combined immunodeficiency in infants presenting with exfoliative dermatitis, erythroderma, recurrent infections, eosinophilia and raised IgE. OS is fatal unless treated by bone-marrow transplantation (BMT). We describe a 3-week-old girl who presented with a widespread scaly erythematous rash and stomatitis, and was initially treated for presumed atopic eczema and primary herpes stomatitis. Aged 3 months, she developed erythroderma, diarrhoea and hepatosplenomegaly associated with eosinophilia, raised serum IgE and low IgG, IgA and IgM levels, abnormal lymphocyte populations and skin histology, consistent with a diagnosis of OS. She remains well 16 months after a human leucocyte antigen-matched bone-marrow transplant from an unrelated donor.
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PMID:Omenn's syndrome: lessons from a red baby. 1849 5

One of the severe combined immunodeficiencies (SCIDs), which is caused by a genetic defect in the signal transduction pathways involved in T-cell activation, is the ZAP70 deficiency. Mutations in ZAP70 lead to both abnormal thymic development and defective T-cell receptor (TCR) signaling of peripheral T-cells. In contrast to the lymphopenia in most SCID patients, ZAP70-deficient patients have lymphocytosis, despite the selective absence of CD8+ T-cells. The clinical presentation is usually before 2 years of age with typical findings of SCID. Here, we present three new ZAP70-deficient patients who vary in their clinical presentation. One of the ZAP70-deficient patients presented as a classical SCID, the second patient presented as a healthy looking wheezy infant, whereas the third patient came to clinical attention for the eczematous skin lesions simulating atopic dermatitis with eosinophilia and elevated immunoglobulin E (IgE), similar to the Omenn syndrome. This study illustrates that awareness of the clinical heterogeneity of ZAP70 deficiency is of utmost importance for making a fast and accurate diagnosis, which will contribute to the improvement of the adequate treatment of this severe immunodeficiency.
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PMID:Clinical heterogeneity can hamper the diagnosis of patients with ZAP70 deficiency. 1850 75

Hyper-immunoglobulin E syndrome is a rare primary immunodeficiency disease characterized by recurrent abscess formation, respiratory tract infections and very high titers of serum IgE associated with peculiar face and skeletal features. We report a seven-year old girl presenting with persistent productive cough and history of chronic eczematoid facial lesions since infancy and two episodes of hospitalizations due to pneumonia and perianal abscess. Additionally, in physical examination finger tip clubbing, laxity of joints and crackles in both lungs were detected. Immunologic work up revealed markedly raised IgE level and eosinophilia. The patient was diagnosed as hyper IgE syndrome based on his clinical and laboratory findings. Chest X-ray revealed multiple large cystic lesions in left lung which were confirmed by spiral CT-scan. Pneumonectomy specimen examination showed cystic adenomatoid malformation, characterized by the presence of various cysts lined by epithelium in different sizes. There are few reports of cystic adenomatoid malformation in children. To our best known, this is the first report of cystic adenomatoid malformation in a child with hyper IgE syndrome. Early diagnosis and surgical therapy are helpful in prevention of repeated infections in these patients.
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PMID:Histopathologic Findings of Pneumatocele in a Patient with Hyper-IgE syndrome, compatible with cystic adenomatoid malformation. 1855 13

Hyper-IgE syndrome (HIES) is a primary immunodeficiency characterized by atopic manifestations and susceptibility to infections with extracellular bacteria and fungi, which frequently occur in the skin and lung. Atopic manifestations in HIES include extremely high serum IgE levels, eczema and eosinophilia. Most of the extracellular bacterial infections are associated with disproportionally milder inflammation than normal, which was originally described as having a 'cold abscess'. Non-immunological abnormalities are also observed in most patients with HIES, including a distinctive facial appearance, scoliosis, hyper-extensive joints and retained primary teeth. Recent studies have demonstrated that hypomorphic mutations in signal transducer and activator of transcription 3 result in the classical multisystem form of HIES, whereas a null mutation in tyrosine kinase 2 causes the autosomal recessive form of HIES that is associated with viral and mycobacterial infections. Analyses of cytokine responses in both types of HIES have revealed defects in signal transduction for multiple cytokines including IL-6 and IL-23, leading to impaired T(h)17 function. These results suggest that the defect in multiple cytokine signals is the molecular basis of the immunological and non-immunological abnormalities in HIES and that the susceptibility to infections with extracellular bacteria and fungi in HIES might be associated with the defect in T(h)17 cell differentiation.
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PMID:Defects in Jak-STAT-mediated cytokine signals cause hyper-IgE syndrome: lessons from a primary immunodeficiency. 1908 64


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