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"iga deficiency"

D T Laura Vo Ngoc, Lizette Krist, Frans J van Overveld, Ger T Rijkers
The most common humoral immunodeficiency is IgA deficiency. One of the first papers addressing the cellular and molecular mechanisms underlying IgA deficiency indicated that immature IgA-positive B-lymphocytes are present in these patients. This suggests that the genetic background for IgA is still intact and that class switching can take place. At this moment, it cannot be ruled out that genetic as well as environmental factors are involved. Areas covered: A clinical presentation, the biological functions of IgA, and the management of IgA deficiency are reviewed...
October 25, 2016: Expert Review of Clinical Immunology
Reza Yazdani, Gholamreza Azizi, Hassan Abolhassani, Asghar Aghamohammadi
Selective immunoglobulin A deficiency (SIgAD) is the most common primary antibody deficiency. Although more patients with SIgAD are asymptomatic, selected patients suffer from different clinical complications such as pulmonary infections, allergies, autoimmune diseases, gastrointestinal disorders and malignancy. Pathogenesis of SIgAD is still unknown, however, a defective terminal differentiation of B-cells and defect in switching to IgA-producing plasma cells are presumed to be responsible. Furthermore, some cytogenic defects and monogenic mutations are associated with SIgAD...
October 20, 2016: Scandinavian Journal of Immunology
Tatsuo Inamine, An-Ming Yang, Lirui Wang, Kuei-Chuan Lee, Cristina Llorente, Bernd Schnabl
BACKGROUND: Chronic alcohol abuse is associated with intestinal dysbiosis and bacterial translocation. Translocated commensal bacteria contribute to alcoholic liver disease. Secretory immunoglobulin A (IgA) in the intestine binds bacteria and prevents bacterial translocation. METHODS: To investigate the functional role of IgA in ethanol (EtOH)-induced liver disease in mice, we subjected wild type (WT) and IgA-deficient littermate mice to Lieber-DeCarli models of chronic EtOH administration and the model of chronic and binge EtOH feeding (the NIAAA model)...
October 14, 2016: Alcoholism, Clinical and Experimental Research
Suresh Kumar Gupta, Kunal Kishor Jha, Mhd Diaa Chalati, Losan Tareq Alashi
A man aged 30 years presented to the emergency department (ED) with ataxia, areflexia, facial weakness, ophthalmoplegia, extremity weakness and back pain for 4 days. 4 days prior to attending the ED, the patient had suffered from diarrhoea for 2 weeks. The diagnosis of Miller Fisher syndrome was performed on the dual basis of clinical features in addition to an investigations report. Nerve conduction studies and anti-GQ1b IgG antibody analysis were requested. Once IgA deficiency was ruled out, the patient was started on intravenous immunoglobulin (400 mg/kg/day)...
October 13, 2016: BMJ Case Reports
R Ragesh, Animesh Ray, Agrima Mian, Surabhi Vyas, S K Sharma
We describe an interesting case of severe asthma who was not showing satisfactory response to standard treatment. Investigations revealed him to be suffering from allergic bronchopulmonary aspergillosis (ABPA). After starting systemic steroids he showed marked improvement initially only to have recurrent symptoms within a year. He was investigated further and found to have chronic pulmonary aspergillosis in the form of chronic cavitary pulmonary aspergillosis (CCPA) and aspergilloma as also the presence of selective IgA deficiency...
April 2016: Journal of the Association of Physicians of India
Stefano Levi Mortera, Federica Del Chierico, Pamela Vernocchi, Maria M Rosado, Agnese Cavola, Marco Chierici, Luisa Pieroni, Andrea Urbani, Rita Carsetti, Isabella Lante, Bruno Dallapiccola, Lorenza Putignani
At birth, contact with external stimuli, such as nutrients derived from food, is necessary to modulate the symbiotic balance between commensal and pathogenic bacteria, protect against bacterial dysbiosis, and initiate the development of the mucosal immune response. Among a variety of different feeding patterns, breastfeeding represents the best modality. In fact, the capacity of breast milk to modulate the composition of infants' gut microbiota leads to beneficial effects on their health. In this study, we used newborn mice as a model to evaluate the effect of parental genetic background (i...
2016: Frontiers in Microbiology
Paola G Bronson, Diana Chang, Tushar Bhangale, Michael F Seldin, Ward Ortmann, Ricardo C Ferreira, Elena Urcelay, Luis Fernández Pereira, Javier Martin, Alessandro Plebani, Vassilios Lougaris, Vanda Friman, Tomáš Freiberger, Jiri Litzman, Vojtech Thon, Qiang Pan-Hammarström, Lennart Hammarström, Robert R Graham, Timothy W Behrens
Selective immunoglobulin A deficiency (IgAD) is the most common primary immunodeficiency in Europeans. Our genome-wide association study (GWAS) meta-analysis of 1,635 patients with IgAD and 4,852 controls identified four new significant (P < 5 × 10(-8)) loci and association with a rare IFIH1 variant (p.Ile923Val). Peak new variants (PVT1, P = 4.3 × 10(-11); ATG13-AMBRA1, P = 6.7 × 10(-10); AHI1, P = 8.4 × 10(-10); CLEC16A, P = 1.4 × 10(-9)) overlapped with autoimmune markers (3/4) and correlated with 21 putative regulatory variants, including expression quantitative trait loci (eQTLs) for AHI1 and DEXI and DNase hypersensitivity sites in FOXP3(+) regulatory T cells...
October 10, 2016: Nature Genetics
Sonu Acharya, Pradip Kumar Mandal
INTRODUCTION: The interrelationship of human immunodeficiency virus (HIV) infection and dental caries, as well as Salivary IgA (S-IgA) level, appear to remain underexplored while a manual and electronic search of the literature was made. Hence, this study was undertaken to assess the relationship of S-IgA and dental caries status in HIV +ve children. AIM: The aim of this study was to find out the relationship of S-IgA antibody with dental caries by measuring the concentration of IgA in saliva of HIV +ve and HIV -ve children and to determine the dental caries status in HIV +ve and HIV -ve children, which may help in treatment planning and prevention of the same...
October 2016: Journal of the Indian Society of Pedodontics and Preventive Dentistry
T V Latysheva, E A Latysheva, I A Martynova, G E Aminova
Primary immunodeficiencies (PIDs) are a group of congenital diseases of the immune system, which numbers more than 230 nosological entities associated with lost, decreased, or wrong function of its one or several components. Due to the common misconception that these are extremely rare diseases that occur only in children and lead to their death at an early age, PIDs are frequently ruled out by physicians of related specialties from the range of differential diagnosis. The most common forms of PIDs, such as humoral immunity defects, common variable immune deficiency, X-linked agammaglobulinemia, selective IgA deficiency, etc...
2016: Terapevticheskiĭ Arkhiv
Andrew Paul Demidowich, Amartya Kundu, James C Reynolds, Francesco S Celi
A 42-year-old female with immunoglobulin A deficiency and recurrent sinopulmonary infections underwent thyroidectomy for papillary thyroid cancer (PTC). Follow-up (123)I scintigraphy demonstrated diffuse pulmonary uptake, suggesting metastatic disease. However, subsequent pathologic, biochemical and radiographic testing proved that she was in fact disease free, and the initial (123)I pulmonary uptake was identified as a false positive. Inflammatory conditions may rarely cause iodine uptake in non-thyroidal tissues due to local retention, organification, and/or immunologic utilization...
September 2016: Nuclear Medicine and Molecular Imaging
Marta P Baleva, Snejina Mihaylova, Petja Yankova, Iliana Atanasova, Milena Nikolova-Vlahova, Elissaveta Naumova
INTRODUCTION: Selective IgA deficiency (IgAD) is the most prevalent type of primary immune deficiencies, but partial IgA deficiency is even more common. Addison's disease is a rare condition associated with primary adrenal insufficiency due to infection or autoimmune destruction of the adrenals. The association between IgA deficiency and Addison's disease is very rare. CASE AND LABORATORY DATA: We observed a 22-year-old male patient with marked darkening of the skin, especially on the palms and areolae, jaundice on the skin and sclera, astheno-adynamia, hypotension (80/50 mm Hg), and pain in the right hypochondrium...
2016: Central-European Journal of Immunology
Hikmet G Tanyildiz, Handan Dincaslan, Gulsan Yavuz, Emel Unal, Aydan Ikinciogulları, Figen Dogu, Nurdan Tacyildiz
The prevalence of lymphoma in primary immunodeficiency cases and autoimmune diseases, as well as on a background of immunodeficiency following organ transplants, is increasing. The lymphoma treatment success rate is known to be a low prognosis. Our study aimed to emphasize the low survival rates in immunodeficient vs. immunocompetent lymphoma patients and also to investigate the effect of rituximab in patients with ataxia telangiectasia and other immunodeficiencies. We summarized the clinical characteristics and treatment results of 17 cases with primary immunodeficiency that developed non-Hodgkin lymphoma (NHL) and Hodgkin lymphoma (HL) retrospectively...
October 2016: Journal of Clinical Immunology
Imad Absah, Abdul R Rishi, Melissa R Snyder, Joseph A Murray
OBJECTIVES: Guidelines for diagnosing celiac disease (CD) recommend initial testing with a highly sensitive serologic test for anti-tissue transglutaminase immunoglobulin A antibodies (tTG IgA). When the probability of CD is high, IgA deficiency should be considered. The two approaches to address this include measuring "both tTG IgA and tTG IgG" or measuring "total IgA". We aim to assess the utility of an isolated positive tTG IgG result in diagnosing CD. METHODS: We conducted a retrospective review of patients undergoing serologic testing for CD from January 1997 to June 2014...
July 28, 2016: Journal of Pediatric Gastroenterology and Nutrition
Sharon Julie Williams, Sudhir Gupta
Anaphylactic reactions are a known complication in some IgA-deficient patients receiving blood or plasma transfusions. It is of particular interest that anaphylaxis has been observed in patients with common variable immunodeficiency (CVID) who are receiving intravenous gammaglobulin (IVIG), and in that, although these patients have an impaired response to common vaccines, they retain the ability to produce autoantibodies. In this study, we review IgA antibodies (both IgG- and IgE-mediated reactions) in patients with CVID and hypogammaglobulinemia, anaphylaxis in antibody immunodeficient patients receiving IVIG, and proposed mechanisms of desensitization and prevention of anaphylactic reactions in immunodeficient patients receiving IVIG...
July 13, 2016: Archivum Immunologiae et Therapiae Experimentalis
Shinsuke Maruyama, Yasuhiro Okamoto, Mitsuo Toyoshima, Ryosuke Hanaya, Yoshifumi Kawano
Lamotrigine (LTG) is an anti-epileptic drug and mood-stabilizing agent, whose adverse effects include skin rash and dizziness. Interactions with the immune system are rare, and only a few cases linking hypogammaglobulinemia to LTG treatment have been previously described. In this report, we describe a case in which a patient developed hypogammaglobulinemia, and a subsequent immunoglobulin A (IgA) deficiency, following LTG treatment. As a result of her immunodeficiency, the patient presented with a severe urinary tract infection and required intravenous immunoglobulin...
July 7, 2016: Brain & Development
Lamia Sfaihi, Dominique Stoppa Lyonnet, Salma Ben Ameur, Catherine Dubois D'enghien, Thouraya Kamoun, Mohamed Ridha Barbouch, Mongia Hachicha
BACKGROUND: Ataxia-telangiectasia (A-T) is a multisystem disorder characterized by progressive neurologic impairment, variable immunodeficiency, impaired organ maturation, X-ray hypersensitivity, oculocutaneous telangiectasia, and a predisposition to malignancy. AIM: We performed this study in order to describe clinical, immunological and molecular features of patients with AT followed in the south of Tunisia Methods: we performed a retrospective study (1996-2012) in the south of Tunisia about all cases of A-T in order to describe their clinical, immunological and molecular features...
August 2015: La Tunisie Médicale
Nadia E Saldanha, Eric C Weiselberg, Martin Fisher
PURPOSE: Celiac disease (CD) affects approximately 1% of the population, and although it remains largely underdiagnosed, can have considerable long-term morbidity. Common presenting symptoms include gastrointestinal complaints and weight loss, which are also symptoms seen in patients with eating disorders (EDs). Because of this overlap, and the importance of early diagnosis of CD and identifying possible complicating factors in patients with EDs, screening in our program has become part of an initial assessment during the past 4 years...
June 14, 2016: International Journal of Adolescent Medicine and Health
Hassan Abolhassani, Asghar Aghamohammadi, Lennart Hammarström
INTRODUCTION: For twenty years, two paradigms have been considered as the main genetic contributors to immunoglobulin A deficiency, including cytogenetic defects involving large chromosomal aberrations and an association with the human major histocompatibility complex (MHC) locus. However, an overview of recent studies suggests a role for several monogenic disorders in the development of this disease. AREAS COVERED: This review examines the concept of monogenic disorders for patients with IgA deficiency in order to identify the underlying pathogenic mechanism(s)...
June 8, 2016: Expert Review of Clinical Immunology
Aaron Rohr, Ryan Ash, John Vadaparampil, Jacqueline Hill, Louis Wetzel
A 51-year-old man with history of undiagnosed pulmonary nodules 4 years prior, presented with right-sided chest pain. Acute cardiac workup was negative, and a chest computed tomography examination demonstrated marked improvement in bilateral pulmonary nodules. A concordant abdominal computed tomography examination showed new subcentimeter hypodense lesions throughout the liver and spleen, mild progressive abdominopelvic lymphadenopathy, and new small lytic lesions of T11 and L4 vertebrae. A positron emission tomography examination demonstrated hypermetabolic activity of these abdominopelvic lesions suggesting metastatic disease...
June 2016: Radiology case reports
Kathryn Peterson, Rafael Firszt, John Fang, Jathine Wong, Ken R Smith, Kristina A Brady
OBJECTIVES: Recent genome-wide association studies have suggested possible genetic associations between eosinophilic esophagitis (EoE) and genes associated with autoimmunity. No studies to date have looked at potential genetic association of EoE with specific autoimmune diseases by evaluating such diagnoses within family members. Investigate the risk of specific autoimmune disease within EoE probands and their extended family members. METHODS: The Utah Population Database offers a unique opportunity to link medical records from over 85% of Utah's population to genealogy records representing Utah...
July 2016: American Journal of Gastroenterology
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