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 25,733 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

Primary immunodeficiency disorders (PIDs) continue to illuminate mechanisms of human immunity and hypersensitivity. New discoveries in common variable immunodeficiency, the most enigmatic of PID syndromes, reveal molecular pathways of importance in human antibody production. FOXP3 mutations demonstrate the essential role that T-regulatory cells play in controlling autoantibody formation and disease. Interleukin-1 receptor-associated kinase 4 deficiency emphasizes the key role that innate immunity plays in the defense of bacterial disease occurring early in life. With respect to therapy, subcutaneous immunoglobulin treatment may indeed be a better treatment than intravenous immunoglobulin for many patients with antibody deficiency. Finally, PIDs remain in the vanguard for the treatment of inherited disorders by gene therapy. Gene therapy has cured patients with chronic granulomatous disease and severe combined immunodeficiency, but not without morbidity and mortality. Into the 21st century, PIDs continue to instruct us in human health and disease.
Curr Allergy Asthma Rep 2006 Nov
PMID:Immunodeficiency in childhood. 1702 73

Clinical practice guidelines for the management of acute bacterial rhinosinusitis in children were published by the American Academy of Pediatrics in 2001. Changes in the antibiotic susceptibility patterns for the common pathogens causing both acute and chronic rhinosinusitis warrant a reevaluation and update of these recommendations. In addition, there was only a very brief discussion of chronic disease in this publication, with the conclusion that the pathogenesis and management of recurrent or prolonged infection were essentially unknown. Although there are still insufficient data in the literature to develop evidence-based clinical guidelines, a careful review of recent literature and the clinical experience of experts who manage pediatric chronic sinusitis are presented in an effort to provide some specific recommendations and to offer practical treatment options. Factors associated with chronic rhinosinusitis should be addressed individually and include environmental pollution, recurrent viral upper respiratory infections, allergic and nonallergic rhinitis, ciliary dyskinesia, cystic fibrosis, immunodeficiency, gastroesophageal reflux, and anatomic abnormalities.
Curr Allergy Asthma Rep 2006 Nov
PMID:Rhinosinusitis in children. 1702 77

The i.v. immunoglobulin (IVIG) therapy is one of the mainstays of treatment for humoral immunodeficiencies, but there is limited knowledge of the adverse reactions associated with this therapy, especially reactions occurring in the postinfusion period. The purpose of this prospective, observational, multicenter study was to identify and quantify the adverse reactions that can occur both during and after IVIG infusions (Gamimune N) in patients with humoral immunodeficiency. Patients with primary immunodeficiencies requiring IVIG therapy were followed over a 6-month period, and data regarding adverse events, particularly the time of onset, duration, and type of reaction associated with IVIG infusions wzas collected via direct observation and patient interviews. Data were obtained during and up to 72 hours after the completion of infusions. Sixty-five patients were recruited and received a total of 447 infusions over a 6-month period. Four hundred fifty-one adverse reactions were noted, with 17% of infusions associated with an intrainfusion reaction and 41% associated with a postinfusion reaction. Most postinfusion reactions occurred within 24 hours of the infusion and consisted mainly of headaches, fatigue, and nausea. Adverse reactions to Gamimune N infusions are common and occur primarily in the postinfusion period. Estimates of the rate of adverse reactions to Gamimune N infusions currently are underestimated because they do not account for postinfusion reactions. In addition, once recognized, effective treatment of postinfusion reactions may improve patient compliance and quality of life.
Allergy Asthma Proc
PMID:Intrainfusion and postinfusion adverse events related to intravenous immunoglobulin therapy in immunodeficiency states. 1717 91

Omenn syndrome (OS) is a rare disorder within the combined immunodeficiency family that is characterized by a diffuse exudative, erythematous rash, lymphadenopathy, hepatosplenomegaly, alopecia, and failure to thrive. Specific lab findings unique to OS include hypereosinophilia, elevated IgE, excess production of oligoclonal T-cells and near-to-absent B-cells. Much remains elucidated about the underlying genetic cause of OS. Until recently, it was felt that the disease was primarily caused by mutations of the RAG1 or RAG2 genes. The type of mutation of the RAG1 and RAG2 genes in patients with OS affects the degree of functioning variable (diversity) joining [V(D)J] recombination activity, which is critical to the development of lymphoid cell receptor diversity. New work has also shown that thymic tissue in OS patients demonstrates a severe defect in the expression of the autoimmune regulator element. This may contribute to the development of autoreactive T-cells that are felt to be the causative agent of a number of the clinical hallmarks unique to OS. The genetic spectrum of OS was further expanded when a patient with clinical and immunologic features consistent with OS, without RAG mutation, was found to have mutations in both alleles coding for ARTEMIS, a key V(D)J recombination/DNA repair factor. Regardless of the underlying cause, early recognition is critical because patients die at a very young age without bone marrow transplantation. We describe an infant diagnosed with OS post-mortem in which death was directly related to the development of necrotizing enterocolitis.
Allergy Asthma Proc
PMID:Necrotizing enterocolitis in an infant with Omenn syndrome. 1717 92

In this case report we will describe a rare association between anhyrotic ectodermal dysplasia (AED) and immunodeficiency and autoimmunity [in our case: Idiopathic Thrombocytopenic Purpura (ITP) and Crohn disease]. AED is a rare congenital disorder characterized by sparse hair, abnormal teeth and anhidrosis due to lack of eccrine glands. The survey of 87 cases with (AED) revealed only one Irritable Bowel Disease (IBD). AED has only two relevancies with immunodeficiency: (EDA-ID: Ectodermal Dysplasia Anhyrotic with Immunodeficiency) and APE-CED (Autoimmune polyendocrinopathy, Candidiasis and Ectodermal Dysplasia) that in our case EDA-ID is strongly suspected.
Iran J Allergy Asthma Immunol 2006 Sep
PMID:Crohn's disease and idiopathic thrombocytopenic purpura in a patient with ectodermal dysplasia and immunodeficiency. 1723 67

Primary immunodeficiency disorders are a heterogeneous group of genetic disorders, with different modes of inheritance, consisting of more than 100 different types. We constructed the DNA banking of primary immunodeficiency disorders for the first time in Iran. The DNA of 31 immunodeficient patients and their families (total of 92 samples) were collected, as the first step for construction of DNA banking. DNA was isolated from whole blood by salting out method. Among our patients, Common variable immunodeficiency was the most common disorder, followed by X-linked agammaglobulinemia, Ataxia-telangiectasia, Chronic granulomatous disease, Severe combined immunodeficiency, Hyper IgM syndromes, and Leukocyte adhesion defects. DNA banking is a useful method for further detection of mutation in immunodeficient patients and prenatal diagnosis for presence or absence of the disorder in the fetus which can be confirmed by molecular genetics testing.
Iran J Allergy Asthma Immunol 2006 Dec
PMID:DNA banking of primary immunodeficiency disorders in iran. 1723 75

Primary antibody deficiencies are the most frequent primary immunodeficiency disorders. Bronchiectasis as a feature of these disorders may be developed due to some factors such alpha-1- antitrypsin deficiency. In order to determine the prevalence of two common alpha-1-antitrypsin deficiency alleles (PI*Z and PI*S) in Iranian patients with antibody deficiency, this study was performed. The prevalence of PI*M, PI*S, and PI*Z allele combinations was determined in 40 patients with primary antibody deficiency (with and without bronchiectasis) and compared with 60 healthy control subjects. Phenotyping was performed by isoelectric focusing. The phenotype frequencies among patients were as follow: M in 92.5%, S in 2.5% and Z in 5%. There was not any significant difference in distribution of alleles or phenotypes between patients and control subjects. Moreover, no significant difference was found between patients with and without bronchiectasis. We did not find evidence to support an association between alpha-1-antitrypsin phenotypes and primary antibody deficiencies in a small, controlled study. Larger studies will be required to clarify the relationship between alpha-1-antitrypsin genotype and susceptibility to bronchiectasis in patients with antibody deficiency.
Iran J Allergy Asthma Immunol 2006 Jun
PMID:Study of alpha1-antitrypsin phenotypes frequencies in patients with primary antibody deficiency. 1723 79

The primary immunodeficiency (PI) disorders are abnormalities in development and maturation of the immune system. Individuals with PI disease may experience frequent infections, which limit their abilities to exhibit physical and psychological well-being secondary to their illness. In this survey we compared health-related quality of life of primary immune deficient patients with healthy children. The case-control study was designed for patients with PI disease who were referred to Children Medical Center in 2004-2005. Demographic information was taken and Pediatric Quality Of Life (PEDQOL) questionnaire were filled for 50 PI patients and 100 healthy children. The mean age in PI patients was 12.62+/- 3.65 (range from 8 to 18) years and in the control group was 11.04+/- 3.3 years. In PI patients 68% were male and 32% female .Most patients with PI disease had a diagnosis of common variable immunodeficiency (54%) or X-linked agammaglobulinemia (24%). Patients with PI disease had great limitations in physical functioning and psychological well-being (p<0.001 and p<0.001 respectively) compared with children without a chronic health condition. Patients had lower PEDQOL scores in all age groups compared with normal sample (p<0.001). Long duration of disease significantly correlated with low psychological score. (r =-3.23. P= 0.03) Children with PI disease experience poorer health related quality of life than healthy children, indicating more attention should be paid to early diagnosis and treatment of PI disease, as well as more attention to their social limitation. PI patients may need psychological consultation for better coping with their illness.
Iran J Allergy Asthma Immunol 2006 Mar
PMID:Health-related quality of life in primary immune deficient patients. 1724

There are few reports about congenital indifference to pain or Hereditary and Sensory Autonomic Neuropathy (HSAN). Several investigations for pathophysiology of this syndrome have been performed and different classifications about it. In this report we present a case of HSAN type II with general absence of pain and self amputations and leprosy-like damage of extremities which was suspected to be phagocytic immunodeficiency due to past history of repeated ulcer and abscess formation.
Iran J Allergy Asthma Immunol 2006 Mar
PMID:Congenital sensory neuropathy as a differential diagnosis for phagocytic immunodeficiency. 1724 3

Chronic granulomatous disease is an infrequent primary immunodeficiency characterized by defective intracellular killing of ingested microorganisms thereby making patients highly susceptible to recurrent lite threatening bacterial and fungal infections. In this study, we review the medical course of an 8 yrs old girl with AR-CGD. She suffered from recurrent dermal and deep abscesses, retractable salmonellosis, disseminated BCGosis, recurrent aspergillus infection presenting as mandibular osteomyelitis and pulmonary involvement with invasion to rib and vertebral bodies. Despite of longterm IV amphotricin B, itraconazole and IFN-gamma administration, and surgical interventions (drainage and resection), she died in spite of long term antibiotic anti fungal prophylaxis and interferon-gamma administrations, invasive aspergillosis resistant to current conventional therapies is the cause of 1/2 to 1/3 of CGD deaths.
Iran J Allergy Asthma Immunol 2003 Mar
PMID:Para Vertebral Abscess and Rib Osteomyelitis due to Aspergillous Fumigatus in a Patient with Chronic Granulomatous Disease. 1730 51


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