4,491 results match your criteria Immunoglobulin A Deficiency


CLASS SWITCHING AND HIGH AFFINITY IgG PRODUCTION BY B CELLS IS DISPENSABLE FOR THE DEVELOPMENT OF HYPERTENSION IN MICE.

Cardiovasc Res 2020 Jul 1. Epub 2020 Jul 1.

Department of Molecular Physiology and Biophysics, Vanderbilt University, Nashville, TN, USA.

Aims: Elevated serum immunoglobulins have been associated with experimental and human hypertension for decades but whether immunoglobulins and B cells play a causal role in hypertension pathology is unclear. In this study, we sought to determine the role of B cells and high-affinity class-switched immunoglobulins on hypertension and hypertensive end-organ damage to determine if they might represent viable therapeutic targets for this disease.

Methods And Results: We purified serum IgG from mice exposed to vehicle or angiotensin (Ang) II to induce hypertension and adoptively transferred these to wild type (WT) recipient mice receiving a subpressor dose of Ang II. Read More

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http://dx.doi.org/10.1093/cvr/cvaa187DOI Listing

A novel mutation of indoleamine 2,3-dioxygenase 1 causes a rapid proteasomal degradation and compromises protein function.

J Autoimmun 2020 Jun 27:102509. Epub 2020 Jun 27.

Medicine, Italy.

Indoleamine 2,3-dioxygenase 1 (IDO1) - the enzyme catalyzing the rate-limiting step of tryptophan catabolism along the kynurenine pathway - belongs to the class of inhibitory immune checkpoint molecules. Such regulators of the immune system are crucial for maintaining self-tolerance and thus, when properly working, preventing autoimmunity. A dysfunctional IDO1 has recently been associated with a specific single nucleotide polymorphism (SNP) and with the occurrence of autoimmune diabetes and multiple sclerosis. Read More

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http://dx.doi.org/10.1016/j.jaut.2020.102509DOI Listing

Effect of lead exposure and nutritional iron-deficiency on immune response: A vaccine challenge study in rats.

J Immunotoxicol 2020 Dec;17(1):144-152

Food and Drug Toxicology Research Center, ICMR-National Institute of Nutrition, Hyderabad, India.

The prevalence of iron (Fe) deficiency and subclinical lead (Pb) toxicity is high in developing countries like India, and information on their potential additive effects on immune responses is scant. The current study assessed immune parameters in dual Pb-exposed\Fe-deficient weanling SD rats. Rats were fed a control (CD) or Fe-deficient (ID) diet for 4 weeks and then evaluated for hemoglobin (Hb) and serum Fe status. Read More

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http://dx.doi.org/10.1080/1547691X.2020.1773973DOI Listing
December 2020

Critical Role of Intestinal Microbiota in ATF3-Mediated Gut Immune Homeostasis.

J Immunol 2020 Jun 22. Epub 2020 Jun 22.

Joint Program in Immunology, Affiliated Guangzhou Women and Children's Medical Center, Zhongshan School of Medicine, Sun Yat-sen University, Guangzhou 510623, China;

Secretory Ig A (sIgA) plays an important role in the maintenance of intestinal homeostasis via cross-talk with gut microbiota. The defects in sIgA production could elicit dysbiosis of commensal microbiota and subsequently facilitate the development of inflammatory bowel disease. Our previous study revealed activating transcription factor 3 (ATF3) as an important regulator of follicular helper T (T) cells in gut. Read More

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http://dx.doi.org/10.4049/jimmunol.1901000DOI Listing

X-linked inhibitor of apoptosis protein deficiency complicated with Crohn's disease-like enterocolitis and Takayasu arteritis: A case report.

Clin Immunol 2020 Jun 12;217:108495. Epub 2020 Jun 12.

Center for Pediatric Inflammatory Bowel Disease, Division of Gastroenterology, National Center for Child Health and Development, Tokyo, Japan.

X-linked inhibitor of apoptosis protein (XIAP) deficiency results in monogenic inflammatory bowel disease. To date, no vasculitis associated with XIAP deficiency has been reported. A 10-year-old boy was diagnosed with Crohn's disease and he responded poorly to conventional treatment for Crohn's disease. Read More

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http://dx.doi.org/10.1016/j.clim.2020.108495DOI Listing

Biochemical Evaluation of Processed Ascites in Patients Undergoing Cell-Free and Concentrated Ascites Reinfusion Therapy.

Ther Apher Dial 2020 Jun 10. Epub 2020 Jun 10.

Department of Nephrology, Shinonoi General Hospital.

The biochemical composition of processed ascites is not well researched and may differ among institutions. This prospective study was conducted to evaluate the biochemical characteristics of processed ascites of 11 patients with liver cirrhosis and carcinoma who underwent cell-free and concentrated ascites reinfusion therapy. The ascites due to carcinoma were more acidic and had higher lactate dehydrogenase activity than those due to liver cirrhosis. Read More

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http://dx.doi.org/10.1111/1744-9987.13541DOI Listing

Evaluating the efficacy and safety of human anti-SARS-CoV-2 convalescent plasma in severely ill adults with COVID-19: A structured summary of a study protocol for a randomized controlled trial.

Trials 2020 06 8;21(1):499. Epub 2020 Jun 8.

Columbia University Medical Center, New York, USA.

Objectives: The aim of this study is to evaluate the efficacy and safety of human anti-SARS-CoV-2 convalescent plasma in hospitalized adults with severe SARS-CoV-2 infection.

Trial Design: This is a prospective, single-center, phase 2, randomized, controlled trial that is blinded to participants and clinical outcome assessor.

Participants: Eligible participants include adults (≥ 18 years) with evidence of SARS-CoV-2 infection by PCR test of nasopharyngeal or oropharyngeal swab within 14 days of randomization, evidence of infiltrates on chest radiography, peripheral capillary oxygen saturation (SpO2) ≤ 94% on room air, and/or need for supplemental oxygen, non-invasive mechanical ventilation, or invasive mechanical ventilation, who are willing and able to provide written informed consent prior to performing study procedures or who have a legally authorized representative available to do so. Read More

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http://dx.doi.org/10.1186/s13063-020-04422-yDOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7276974PMC

LIG4 syndrome: clinical and molecular characterization in a Chinese cohort.

Orphanet J Rare Dis 2020 May 29;15(1):131. Epub 2020 May 29.

Department of Clinical Immunology, Children's Hospital of Fudan University, 399 Wanyuan Road, Shanghai, 201102, China.

Background: DNA Ligase IV (LIG4) syndrome is a rare disease with few reports to date. Patients suffer from a broad spectrum of clinical features, including microcephaly, growth retardation, developmental delay, dysmorphic facial features, combined immunodeficiency, and malignancy predisposition. There may be a potential association between genotypes and phenotypes. Read More

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http://dx.doi.org/10.1186/s13023-020-01411-xDOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7257218PMC

[Clinical and immunological characteristics of a case with activated phosphoinositide 3-kinase δ syndrome 2].

Zhonghua Er Ke Za Zhi 2020 May;58(5):413-417

Department of Pediatric Research Institute, Children's Hospital of Chongqing Medical University, Ministry of Education Key Laboratory of Child Development and Disorders, National Clinical Research Center for Child Health and Disorders (Chongqing), China International Science and Technology Cooperation Base of Child Development and Critical Disorders, Chongqing Key Laboratory of Child Infection and Immunity, Chongqing 400014, China.

To analyze the clinical and immunological characteristics of a patient with activated phosphoinositide 3-kinase δ syndrome 2 (APDS2). A retrospective analysis of clinical data, immune-related gene sequencing, imaging and laboratory findings of a patient with APDS2 admitted to Children's Hospital of Chongqing Medical University was performed. The absolute and relative numbers of peripheral lymphocyte subsets, immune cell subsets and phenotypes were detected by flow cytometry with the age matched healthy child or the patient's father as a control. Read More

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http://dx.doi.org/10.3760/cma.j.cn112140-20190925-00614DOI Listing

Defective formation of IgA memory B cells, Th1 and Th17 cells in symptomatic patients with selective IgA deficiency.

Clin Transl Immunology 2020 May 29;9(5):e1130. Epub 2020 Apr 29.

Department of Immunology Erasmus MC University Medical Center Rotterdam The Netherlands.

Objective: Selective IgA deficiency (sIgAD) is the most common primary immunodeficiency in Western countries. Patients can suffer from recurrent infections and autoimmune diseases because of a largely unknown aetiology. To increase insights into the pathophysiology of the disease, we studied memory B and T cells and cytokine concentrations in peripheral blood. Read More

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http://dx.doi.org/10.1002/cti2.1130DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7190975PMC

Efficiency in Deficiency: "Scoping" the Only Solution for IgA-deficient Coeliac Patients?

Authors:
Peter Gillett

J Pediatr Gastroenterol Nutr 2020 Jul;71(1):2-3

Royal Hospital for Sick Children, Edinburgh, Scotland, UK.

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http://dx.doi.org/10.1097/MPG.0000000000002733DOI Listing

Childhood vasculitis.

Authors:
Seza Ozen Erdal Sag

Rheumatology (Oxford) 2020 May;59(Supplement_3):iii95-iii100

Division of Pediatric Rheumatology, Department of Pediatrics, Hacettepe University, Ankara, Turkey.

Vasculitis is a challenging disease for paediatricians. Certain vasculitides are quite common in children whereas others are much rarer compared with adults. The most common vasculitides in childhood are IgA-associated vasculitis (Henoch-Schönlein purpura) and Kawasaki disease, which are usually self-limiting vasculitides although children do develop complications as a result. Read More

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http://dx.doi.org/10.1093/rheumatology/kez599DOI Listing
May 2020
4.475 Impact Factor

Impaired mucociliary motility enhances antigen-specific nasal IgA immune responses to a cholera toxin-based nasal vaccine.

Int Immunol 2020 Apr 29. Epub 2020 Apr 29.

Laboratory of Vaccine Materials, Center for Vaccine and Adjuvant Research and Laboratory of Gut Environmental System, National Institutes of Biomedical Innovation, Health and Nutrition (NIBIOHN), Osaka, Japan.

Nasal mucosal tissues are equipped with physical barriers, mucus and cilia, on their surface. The mucus layer captures inhaled materials, and the cilia remove the inhaled materials from the epithelial layer by asymmetrical beating. The effect of nasal physical barriers on the vaccine efficacy remains to be investigated. Read More

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http://dx.doi.org/10.1093/intimm/dxaa029DOI Listing

Secretory IgA in Mucosa of Pharynx and Larynx Plays an Important Role against Influenza A Virus Infection in Kidney Yang Deficiency Syndrome Model.

Evid Based Complement Alternat Med 2020 29;2020:9316763. Epub 2020 Mar 29.

Shandong University of Traditional Chinese Medicine, Jinan, Shandong 250355, China.

Objective: Influenza virus poses a major threat to human health and has serious morbidity and mortality which commonly occurs in high-risk populations. Pharynx and larynx of the upper respiratory tract mucosa is the first defense line against influenza virus infection. However, the ability of the pharynx and larynx organ to eliminate the influenza pathogen is still not clear under different host conditions. Read More

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http://dx.doi.org/10.1155/2020/9316763DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7146091PMC

Social support and resilience in persons with severe haemophilia: An interpretative phenomenological analysis.

Haemophilia 2020 May 14;26(3):e74-e80. Epub 2020 Apr 14.

Olomouc University Social Health Institute, Palacky University Olomouc, Olomouc, Czech Republic.

Introduction: Haemophilia is a hereditary haemorrhagic disorder characterized by deficiency or dysfunction of coagulation factors. Recurrent joint and muscle bleeds lead to progressive musculoskeletal damage. Haemophilia affects patients physically but also socially and psychologically. Read More

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http://dx.doi.org/10.1111/hae.13999DOI Listing

Clinical, immunological and genetic characteristic of patients with clinical phenotype associated to LRBA-deficiency in Colombia.

Colomb Med (Cali) 2019 Sep 30;50(3):176-191. Epub 2019 Sep 30.

Universidad de Antioquia UdeA, Facultad de Medicina, Grupo de Inmunodeficiencias Primarias, Medellin, Colombia.

Background: LPS-responsive beige -like anchor protein (LRBA) deficiency is a primary immunodeficiency disease caused by loss of LRBA protein expression, due to biallelic mutations in gene. LRBA deficiency patients exhibit a clinically heterogeneous syndrome. The main clinical complication of LRBA deficiency is immune dysregulation. Read More

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http://dx.doi.org/10.25100/cm.v50i3.3969DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7141146PMC
September 2019

Phenotypic variability in a child with Felty's syndrome: a case report.

BMC Pediatr 2020 Apr 7;20(1):153. Epub 2020 Apr 7.

Department of Rheumatology, Children's Hospital of Fudan University, 399 Wan-yuan Road, Shanghai, 201102, China.

Background: Felty's syndrome (FS) is characterized by the triad of rheumatoid arthritis (RA), splenomegaly and neutropenia. The arthritis is typically severe and virtually always associated with high-titer rheumatoid factor. The presence of persistent neutropenia is generally required to make the diagnosis. Read More

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http://dx.doi.org/10.1186/s12887-020-02054-4DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7137412PMC

GLILD Revisited: Pulmonary Pathology of Common Variable and Selective IgA Immunodeficiency.

Am J Surg Pathol 2020 Mar 31. Epub 2020 Mar 31.

Department of Pathology, University of British Columbia, Vancouver, BC, Canada.

Common variable immunodeficiency (CVID) and selective immunoglobulin A deficiency (IgAD) often cause chronic lung disease, but the pulmonary pathologic features of these systemic diseases are poorly recognized by pathologists. It has been claimed that CVID cases show a characteristic combination of noncaseating granulomas-lymphoid proliferations termed granulomatous-lymphocytic interstitial lung disease (GLILD). We present 34 surgical lung biopsy cases of CVID and 4 of IgAD. Read More

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http://dx.doi.org/10.1097/PAS.0000000000001479DOI Listing

Celiac disease in children with Down syndrome.

Rev Chil Pediatr 2019 Dec;90(6):589-597

Universidad Santiago de Cali, Cali, Colombia.

Introduction: Celiac disease (CD) in children with Down syndrome (DS) has been published by several countries, without available data for Colombia.

Objective: To determine the frequency and related factors of CD in children with DS, compared with a group of children without DS, analyzing the clinical, im munological, and genetic manifestations.

Patients And Method: A total of 209 children between 1-18 years of age (8. Read More

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http://dx.doi.org/10.32641/rchped.v90i6.925DOI Listing
December 2019

Selective immunoglobulin A deficiency (SIgAD) primarily leads to recurrent infections and autoimmune diseases: A retrospective study of Chinese patients in the past 40 years.

Genes Dis 2020 Mar 30;7(1):115-121. Epub 2019 Oct 30.

Department of Pediatrics, Peking Union Medical College Hospital, Chinese Academy of Medical Sciences, Beijing, China.

Selective immunoglobulin A deficiency (SIgAD) is considered to be the most common human primary immune-deficiency disease in the world. However, the incidence in China is obviously lower than Caucasian races. The definition of SIgAD has changed over time with the progress of people's understanding. Read More

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http://dx.doi.org/10.1016/j.gendis.2019.10.014DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7063418PMC

Hereditary Deficiency of the Second Component of Complement: Early Diagnosis and 21-Year Follow-Up of a Family.

Medicina (Kaunas) 2020 Mar 10;56(3). Epub 2020 Mar 10.

Internal Medicine, Department of Pathophysiology and Transplantation, University of Milan, Fondazione IRCCS Ca' Granda, Ospedale Maggiore Policlinico, 20122 Milan, Italy.

Complement deficiencies are rare and often underdiagnosed primary immunodeficiencies that may be associated with invasive bacterial diseases. Serious infections with encapsulated organisms (mainly Streptococcus pneumoniae, but also Neisseria meningitides and Haemophilus influenzae type B) are frequent in patients with a deficiency of the second component of complement (C2), but no data are available on long-term follow-up. This study aimed to evaluate the long-term clinical outcome and the importance of an early diagnosis and subsequent infection prophylaxis in C2 deficiency. Read More

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http://dx.doi.org/10.3390/medicina56030120DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7143546PMC

The epidemiology and clinical features of selective immunoglobulin M deficiency: A single-center study in China.

J Clin Lab Anal 2020 Mar 10:e23289. Epub 2020 Mar 10.

Department of Clinical Laboratory, Zhejiang Provincial People's Hospital, Hangzhou Medical College, Hangzhou, China.

Background: Selective immunoglobulin M deficiency (SIgMD) is a rare primary immunodeficiency that is frequently reported in Western countries. However, large epidemiological and clinical studies of SIgMD in China are still lacking. Herein, we describe a cohort of SIgMD subjects in a large tertiary university hospital in China. Read More

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http://dx.doi.org/10.1002/jcla.23289DOI Listing
March 2020
1.144 Impact Factor

Nodular regenerative hyperplasia and portal hypertension are the characteristics of liver abnormalities in patients with selective immunoglobulin A deficiency.

Clin Res Hepatol Gastroenterol 2020 Mar 4. Epub 2020 Mar 4.

Department of Gastroenterology, Shengjing Hospital of China Medical University, No. 36 Sanhao Street, Heping District, 110004 Shenyang, Liaoning, PR China. Electronic address:

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http://dx.doi.org/10.1016/j.clinre.2020.02.007DOI Listing
March 2020
1.983 Impact Factor

[A case report of BCL11B mutation induced neurodevelopmental disorder and literature review].

Zhonghua Er Ke Za Zhi 2020 Mar;58(3):223-227

Department of Rheumatology and Immunology, Children's Hospital of Chongqing Medical University, Chongqing Key Laboratory of Child Infection and Immunity, Chongqing 400014, China.

To analyze the clinical , immunological and genetic features of a child with BCL11B mutation induced neurodevelopmental disorder. The clinical data and genetic test of a child with BCL11B mutation hospitalized in the Department of Rheumatology and Immunology in Children's Hospital of Chongqing Medical University in December 2018 were extracted and analyzed. The literature was searched with "BCL11B mutation" and "immunodeficiency 49" as key words in Chinese databases and Pubmed until January 2019 was reviewed. Read More

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http://dx.doi.org/10.3760/cma.j.issn.0578-1310.2020.03.012DOI Listing

Glutathione increase by the n-butanoyl glutathione derivative (GSH-C4) inhibits viral replication and induces a predominant Th1 immune profile in old mice infected with influenza virus.

FASEB Bioadv 2019 May 13;1(5):296-305. Epub 2019 Mar 13.

Deparment of Public Health and Infectious Diseases Istituto Pasteur Italia-Fondazione Cenci-Bolognetti, Sapienza University of Rome Rome Italy.

During aging, glutathione (GSH) content declines and the immune system undergoes a deficiency in the induction of Th1 response. Reduced secretion of Th1 cytokines, which is associated with GSH depletion, could weaken the host defenses against viral infections. We first evaluated the concentration of GSH and cysteine in organs of old mice; then, the effect of the administration of the N-butanoyl GSH derivative (GSH-C4) on the response of aged mice infected with influenza A PR8/H1N1 virus was studied through the determination of GSH concentration in organs, lung viral titer, IgA and IgG1/IgG2a production, and Th1/Th2 cytokine profile. Read More

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http://dx.doi.org/10.1096/fba.2018-00066DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6996388PMC

Iron and prebiotic fortified flour improves the immune function of iron deficient women of childbearing age.

Pak J Pharm Sci 2020 Jan;33(1(Supplementary)):253-261

University Institute of Diet and Nutritional Sciences, The University of Lahore, Islamabad Campus, Islamabad, Pakistan.

Micronutrient deficiencies (MNDs) are common worldwide, in both developing as well as developed countries. MNDs such as Iron Deficiency not only compromise the nutritional status of individuals but can also put them at an increased risk of developing various other diseases by negatively affecting their immunity. The objective of the current research was to determine the effects of prebiotics and iron fortificants on various immunoglobulins among iron deficient women belonging to childbearing age. Read More

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January 2020

Effect of Class Switch Recombination Defect on the Phenotype of Ataxia-Telangiectasia Patients.

Immunol Invest 2020 Mar 2:1-15. Epub 2020 Mar 2.

Research Center for Immunodeficiencies, Pediatrics Center of Excellence, Children's Medical Center, University of Medical Science, Tehran, Iran.

: Ataxia-telangiectasia (A-T) is an autosomal recessive neurodegenerative disorder with multisystem involvement caused by homozygous or compound heterozygous mutations in the gene which encodes a serine/threonine protein kinase. The aims of this study were to investigate class switch recombination (CSR) and to review the clinical and immunologic phenotypes of 3 groups of A-T patients, including A-T patients with CSR defects (CSR-D), A-T patients with selective immunoglobulin A deficiency (IgA-D) and A-T patients with normal Ig level.: In this study, 41 patients with confirmed diagnosis of A-T (16 A-T patients with HIgM, 15 A-T patients with IgA-D, and 10 A-T patients with normal Ig levels) from Iranian immunodeficiency registry center were enrolled. Read More

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http://dx.doi.org/10.1080/08820139.2020.1723104DOI Listing
March 2020
1.903 Impact Factor

SPTB related spherocytosis in a three-generation family presenting with kidney failure in adulthood due to co-occurrence of UMOD disease causing variant.

Nefrologia 2020 Feb 26. Epub 2020 Feb 26.

University Medical Centre Ljubljana, University Children's Hospital, Institute for Special Laboratory Diagnostics, Ljubljana, Slovenia; University of Ljubljana, Faculty of Medicine, Institute of Biochemistry, Ljubljana, Slovenia. Electronic address:

Background: Hereditary spherocytosis is clinically and genetically heterogeneous disorder and its clinical characteristics are spherocytosis, anaemia, jaundice and splenomegaly. The aetiology is associated to the genes encoding proteins involved in the interaction between the erythrocyte membrane and the lipid bilayer. Causative variants in βI-spectrin (SPTB) gene presenting as mild to moderately severe disease are responsible for approximately 25% cases in the USA and Europe. Read More

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http://dx.doi.org/10.1016/j.nefro.2019.10.009DOI Listing
February 2020

Membranoproliferative glomerulonephritis related to a streptococcal infection in a girl with IgA deficiency: a case report.

BMC Nephrol 2020 Feb 27;21(1):68. Epub 2020 Feb 27.

Department of Pediatrics, Kindai University Faculty of Medicine, 377-2 Ohno-higashi, Osaka-sayama, Osaka, 589-8511, Japan.

Background: IgA deficiency associated with glomerulonephritis is rare. In particular, there is no prior report regarding the association between IgA deficiency and membranoproliferative glomerulonephritis (MPGN) in children. Herein, we describe the case of a 5-year-old girl with selective IgA deficiency and MPGN. Read More

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http://dx.doi.org/10.1186/s12882-020-01735-7DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7045629PMC
February 2020

Unusual phenotype in patients with a hypomorphic mutation in the DCLRE1C gene: IgG hypergammaglobulinemia with IgA and IgE deficiency.

Clin Immunol 2020 Apr 21;213:108366. Epub 2020 Feb 21.

Immunology Clinic, Soroka University Medical Center, and Faculty of Health Sciences, Ben-Gurion University of the Negev, Beer-Sheva, Israel.

The nuclease Artemis is a enzyme for V(D)J recombination allowing for the creation of T and B lymphocytes as well as for the repair of radiation-induced DNA double strand breaks encoded by the DCLRE1C gene. Artemis-null mutations are a known cause of severe combined immunodeficiencies (SCIDs) with radiosensitivity. Hypomorphic mutations in Artemis have been reported to cause a "leaky SCID" phenotype, typically with hypogammaglobulinemia. Read More

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http://dx.doi.org/10.1016/j.clim.2020.108366DOI Listing

Influence of the 2012 European Guidelines in Diagnosis and Follow-up of Coeliac Children With Selective IgA Deficiency.

J Pediatr Gastroenterol Nutr 2020 Jul;71(1):59-63

Section of Pediatric Gastroenterology, Hospital Universitario Puerta de Hierro, Madrid, Spain.

Objectives: The aim of the study was to describe diagnostic criteria used in children with coeliac disease (CD) and selective IgA deficiency; to determine if the publication of the 2012 ESPGHAN criteria prompted any changes; to evaluate the evolution of serological markers.

Methods: Multicenter, retrospective, descriptive study of a cohort of children under 15 years with selective IgA deficiency diagnosed with CD (January 2006 to December 2016). Demographic, clinical, genetic, histological and IgG-based antibodies were collected at diagnosis and follow-up. Read More

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http://dx.doi.org/10.1097/MPG.0000000000002634DOI Listing

[Determination of some indicators of immunity and lipoperoxidation in the oral fluid in persons with a low vitamin D level.]

Klin Lab Diagn 2019 ;64(12):753-757

The Chita State Medical Academy Healthcare Ministry of Russia, 672000, Chita, Russia.

Oral fluid is a unique biological environment, containing a wide range of substances, coming from local and systemic sources, which makes it possible to use it as an object for assessing pathological changes in the body both at the local and systemic levels. In comparison with the traditional method of blood analysis, the advantage of evaluating the parameters of the oral fluid is the non-invasive of this method of obtaining material. All patients underwent oral fluid sampling using special plastic containers with a swab, which facilitate the selection of material, eliminating the penetration of mucin into a clean test sample, which helps to obtain more accurate analysis results. Read More

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http://dx.doi.org/10.18821/0869-2084-2019-64-12-753-757DOI Listing
February 2020

Noncoding RNA transcription alters chromosomal topology to promote isotype-specific class switch recombination.

Sci Immunol 2020 02;5(44)

Department of Microbiology and Immunology, Vagelos College of Physicians and Surgeons, Columbia University, New York, NY 10032, USA.

B cells undergo two types of genomic alterations to increase antibody diversity: introduction of point mutations into immunoglobulin heavy- and light-chain ( and ) variable regions by somatic hypermutation (SHM) and alteration of antibody effector functions by changing the expressed IgH constant region exons through IgH class switch recombination (CSR). SHM and CSR require the B cell-specific activation-induced cytidine deaminase (AID) protein, the transcription of germline noncoding RNAs, and the activity of the 3' regulatory region (3'RR) super-enhancer. Although many transcription regulatory elements (e. Read More

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http://dx.doi.org/10.1126/sciimmunol.aay5864DOI Listing
February 2020

Diagnostic approach of hypogammaglobulinemia in infancy.

Pediatr Allergy Immunol 2020 02;31 Suppl 24:11-12

Pediatrics Clinic, Department of Clinical and Experimental Sciences, University of Brescia, Brescia, Italy.

Primary B-cell immunodeficiency is the most frequent immune defect in infancy. Selective absence of serum and secretory immunoglobulin IgA is the most common, with rates ranging from 1/333 persons to 1/16 000, among different races. By contrast, it has been estimated that hypo/agammaglobulinemia occurs with a frequency of 1/50 000 persons. Read More

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http://dx.doi.org/10.1111/pai.13166DOI Listing
February 2020

A novel method for the laboratory workup of anaphylactic transfusion reactions in haptoglobin-deficient patients.

Transfusion 2020 Apr 23;60(4):682-687. Epub 2020 Jan 23.

Department of Laboratory Medicine, Memorial Sloan Kettering Cancer Center, New York, New York.

Background: Patients with congenital haptoglobin deficiency can develop anti-haptoglobin antibodies after exposure to blood products, and they can suffer from life-threatening anaphylactic transfusion reactions. Here, we present a case of a 57-year-old Chinese male with myelodysplastic syndrome who manifested an anaphylactic transfusion reaction during the transfusion of platelets. The only abnormality detected during his reaction laboratory workup was an undetectable haptoglobin level in the absence of evidence of hemolysis. Read More

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http://dx.doi.org/10.1111/trf.15657DOI Listing

Lack of Gut Secretory Immunoglobulin A in Memory B-Cell Dysfunction-Associated Disorders: A Possible Gut-Spleen Axis.

Front Immunol 2019 8;10:2937. Epub 2020 Jan 8.

Department of Molecular Medicine, Sapienza University, Rome, Italy.

B-1a B cells and gut secretory IgA (SIgA) are absent in asplenic mice. Human immunoglobulin M (IgM) memory B cells, which are functionally equivalent to mouse B-1a B cells, are reduced after splenectomy. To demonstrate whether IgM memory B cells are necessary for generating IgA-secreting plasma cells in the human gut. Read More

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http://dx.doi.org/10.3389/fimmu.2019.02937DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6960143PMC
January 2020

The mitochondrial negative regulator MCJ modulates the interplay between microbiota and the host during ulcerative colitis.

Sci Rep 2020 01 17;10(1):572. Epub 2020 Jan 17.

CIC bioGUNE. Bizkaia Science and Technology Park. bld 801 A, 48160, Derio, Bizkaia, Spain.

Recent evidences indicate that mitochondrial genes and function are decreased in active ulcerative colitis (UC) patients, in particular, the activity of Complex I of the electron transport chain is heavily compromised. MCJ is a mitochondrial inner membrane protein identified as a natural inhibitor of respiratory chain Complex I. The induction of experimental colitis in MCJ-deficient mice leads to the upregulation of Timp3 expression resulting in the inhibition of TACE activity that likely inhibits Tnf and Tnfr1 shedding from the cell membrane in the colon. Read More

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http://dx.doi.org/10.1038/s41598-019-57348-0DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6969106PMC
January 2020

Subcutaneous Immunoglobulin for Antibody Deficiency in Antineutrophil Cytoplasmic Antibody (ANCA)-associated Vasculitis.

Cureus 2019 Dec 12;11(12):e6367. Epub 2019 Dec 12.

Medicine, Johns Hopkins Hospital, Johns Hopkins University School of Medicine, Baltimore, USA.

Objectives Intravenous immunoglobulin G (IVIG) is used to treat antineutrophil cytoplasmic antibody (ANCA) patients with recurrent infections as a result of hypogammaglobulinemia (HG) induced by treatment regimens. We sought to characterize clinical features, treatment, and outcomes for patients treated with the novel subcutaneous IgG (SCIG) for the aforementioned purpose.  Methods We conducted a retrospective study of 136 patients in our ANCA database to identify patients with recurrent infections and HG subsequently treated with SCIG. Read More

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http://dx.doi.org/10.7759/cureus.6367DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6957027PMC
December 2019

Vaccine-Strain Herpes Zoster Ophthalmicus in a 14-month-old Boy Prompting an Immunodeficiency Workup: Case Report and Review of Vaccine-strain Herpes Zoster.

Pediatr Infect Dis J 2020 02;39(2):e25-e27

Division of Infectious Diseases, Department of Pediatrics, University of Wisconsin School of Medicine and Public Health, Madison.

We present a case of herpes zoster ophthalmicus in an otherwise healthy 14-month-old male associated with vaccine-strain varicella-zoster virus 11 weeks after monovalent varicella vaccine administration. Herpes zoster ophthalmicus, especially in the setting of familial immunoglobulin A deficiency, prompted further immunologic workup. A high index of suspicion is necessary for timely diagnosis and treatment of vaccine-strain herpes zoster. Read More

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http://dx.doi.org/10.1097/INF.0000000000002545DOI Listing
February 2020

Marked coagulopathy without liver disease or anticoagulation therapy.

Clin Res Hepatol Gastroenterol 2019 Dec 26. Epub 2019 Dec 26.

WWAMI Medical Education Program and Department of Biological Sciences, University of Idaho, 875 Perimeter Drive, Moscow, ID, 83844-3051, USA. Electronic address:

Symptomatic coagulopathies in celiac disease (CD) are rare. Here, we report a profound case of coagulopathy in a celiac. A 66-year old female without liver disease or anti-coagulation therapy presented with multiple ecchymoses, guaiac positive melanic stool, and a recent 4. Read More

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http://dx.doi.org/10.1016/j.clinre.2019.12.002DOI Listing
December 2019

A Tale of Two Immunodeficiencies: A Case of Multiple Myeloma Associated with Profound Immune Defect Mimicking Common Variable Immunodeficiency Syndrome.

Perm J 2020 6;24. Epub 2019 Dec 6.

Department of Immunology, Kaiser Permanente Santa Clara Medical Center, CA.

Introduction: Multiple myeloma (MM) is a clonal plasma cell disorder commonly associated with secondary immune deficiency. By contrast, common variable immunodeficiency (CVID) is a primary immunodeficiency characterized by low serum levels of immunoglobulins (IgG, IgA, and/or IgM) and inability to produce specific protective antibodies in response to infections and immunizations. Besides a defective immune system and susceptibility to infections, CVID is associated with autoimmune disorders, gastrointestinal tract inflammation, granulomatous disease, and malignancies. Read More

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http://dx.doi.org/10.7812/TPP/19.104DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6907896PMC
December 2019

CD40 Ligand Deficiency.

Allergol Immunopathol (Madr) 2020 Jul - Aug;48(4):409-413. Epub 2019 Dec 9.

Immunology Discipline - Pathology Department, Santa Casa de Sao Paulo School of Medical Sciences, São Paulo/SP, Brazil. Electronic address:

CD40 ligand deficiency (CD40L), currently classified as an inborn error of immunity affecting cellular and humoral immunity, prevalently emerges in boys within the first two years of life. It manifests itself as a decrease in serum IgG, IgA and IgE, with normal or high IgM, defects in T cell proliferation, and decrease in soluble CD40L. These accompany sinopulmonary and/or gastrointestinal infections, and there may be infections caused by pyogenic bacteria, opportunistic infections, autoimmune diseases, and neoplasms. Read More

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http://dx.doi.org/10.1016/j.aller.2019.08.005DOI Listing
December 2019
5 Reads

Flagellin-elicited adaptive immunity suppresses flagellated microbiota and vaccinates against chronic inflammatory diseases.

Nat Commun 2019 12 11;10(1):5650. Epub 2019 Dec 11.

Center for Inflammation, Immunity and Infection, Institute for Biomedical Sciences, Georgia State University, Atlanta, GA, USA.

Alterations in gut microbiota composition are associated with metabolic syndrome and chronic inflammatory diseases such as inflammatory bowel disease. One feature of inflammation-associated gut microbiotas is enrichment of motile bacteria, which can facilitate microbiota encroachment into the mucosa and activate pro-inflammatory gene expression. Here, we set out to investigate whether elicitation of mucosal anti-flagellin antibodies by direct administration of purified flagellin might serve as a general vaccine against subsequent development of chronic gut inflammation. Read More

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http://dx.doi.org/10.1038/s41467-019-13538-yDOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6906489PMC
December 2019

Clinical Presentation of Ataxia-Telangiectasia.

Arch Iran Med 2019 12 1;22(12):682-686. Epub 2019 Dec 1.

Shiraz Neuroscience Research Center, Shiraz University of Medical Sciences, Shiraz, Iran.

Background: Ataxia-telangiectasia is a multi-system disorder in which neurologic impairment and immune deficiency are observed. In the present study, patients with ataxia-telangiectasia were followed to provide information regarding clinical and immunological features.

Methods: We report a case series of 18 patients diagnosed with ataxia-telangiectasia, who were referred to a tertiary center of clinical immunology from 2008-2018. Read More

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December 2019

Abnormal Peyer patch development and B-cell gut homing drive IgA deficiency in Kabuki syndrome.

J Allergy Clin Immunol 2020 Mar 6;145(3):982-992. Epub 2019 Dec 6.

McKusick-Nathans Institute of Genetic Medicine, Johns Hopkins University, Baltimore, Md; Department of Pediatrics, Johns Hopkins School of Medicine, Baltimore, Md; Faculty of Medicine, University of Iceland, Reykjavik, Iceland; Department of Genetics and Molecular Biology, Landspitali University Hospital, Reykjavik, Iceland.

Background: Kabuki syndrome (KS) is commonly caused by mutations in the histone-modifying enzyme lysine methyltransferase 2D (KMT2D). Immune dysfunction is frequently observed in individuals with KS, but the role of KMT2D in immune system function has not been identified.

Objective: We sought to understand the mechanisms driving KS-associated immune deficiency (hypogammaglobulinemia [low IgA], splenomegaly, and diminished immunization responses). Read More

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http://dx.doi.org/10.1016/j.jaci.2019.11.034DOI Listing

Canine IgA and IgA deficiency: Implications for immunization against respiratory pathogens.

Authors:
John A Ellis

Can Vet J 2019 Dec;60(12):1305-1311

Department of Veterinary Microbiology, Western College of Veterinary Medicine, 52 Campus Drive, University of Saskatchewan, Saskatoon, Saskatchewan S7N 5B4.

Immunoglobulin A (IgA) is widely recognized as the important antibody isotype involved in protective responses on mucosal surfaces, where it acts primarily by effectuating immune exclusion of foreign material. Selective IgA deficiency (SIgAD) is the most common immunodeficiency disease in dogs and humans and has consequences for mucosal immunity. This review is a comparative look at the biology of IgA and SIgAD with a focus on how this branch of immunology relates to vaccine selection and efficacy for canine infectious respiratory disease. Read More

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http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6855239PMC
December 2019

Deciphering crucial genes in coeliac disease by bioinformatics analysis.

Autoimmunity 2020 03 6;53(2):102-113. Epub 2019 Dec 6.

Department of Biology Sciences, Shahid Rajaee Teacher Training University, Tehran, Iran.

Coeliac disease (CD) is a chronic autoimmune disease that is characterized by malabsorption in sensitive individuals. CD is triggered by the ingestion of grains containing gluten. CD is concomitant with several other disorders, including dermatitis herpetiformis, selective IgA deficiency, thyroid disorders, diabetes mellitus, various connective tissue disorders, inflammatory bowel disease, and rheumatoid arthritis. Read More

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http://dx.doi.org/10.1080/08916934.2019.1698552DOI Listing
March 2020
5 Reads
2.714 Impact Factor

Common variable immune deficiency: case studies.

Hematology Am Soc Hematol Educ Program 2019 12;2019(1):449-456

Departments of Medicine and Pediatrics, Precision Immunology Institute, Icahn School of Medicine at Mount Sinai, New York, NY.

Common variable immune deficiency (CVID) is one of the most common congenital immune defects encountered in clinical practice. The condition occurs equally in males and females, and most commonly in the 20- to 40-year-old age group. The diagnosis is made by documenting reduced serum concentrations of immunoglobulin G (IgG), IgA, and usually IgM, together with loss of protective antibodies. Read More

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http://dx.doi.org/10.1182/hematology.2019002062DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6913496PMC
December 2019

Systemic Immune Profile in Patients With CRSwNP.

Ear Nose Throat J 2019 Dec 4:145561319893163. Epub 2019 Dec 4.

Department of Otorhinolaryngology, Head and Neck Surgery and Audiology, Rigshospitalet-Copenhagen University Hospital, Copenhagen, Denmark.

The immune pathogenesis of chronic rhinosinusitis with nasal polyps (CRSwNP) remains obscure. Our aim was to compare humoral immunity and white blood cell counts in patients with CRSwNP and controls. A prospective case-control study was carried out in 37 patients with CRSwNP and 34 controls without CRS. Read More

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http://dx.doi.org/10.1177/0145561319893163DOI Listing
December 2019

Secondary C1q Deficiency in Activated PI3Kδ Syndrome Type 2.

Front Immunol 2019 11;10:2589. Epub 2019 Nov 11.

Infection, Immunology and Inflammation Research & Teaching Department, University College London Great Ormond Street Institute of Child Health, London, United Kingdom.

Monogenic forms of vasculitis are rare but increasingly recognized. Furthermore, genetic immunodeficiency is increasingly associated with inflammatory immune dysregulatory features, including vasculitis. This case report describes a child of non-consanguineous parents who presented with chronic digital vasculitis early in life, is of short stature, has facial dysmorphia, immunodeficiency (low serum IgA, high serum IgM), recurrent bacterial infections, lymphoproliferation, absence of detectable serum C1q, and low classical complement pathway activity. Read More

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http://dx.doi.org/10.3389/fimmu.2019.02589DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6859795PMC
November 2019