6,151 results match your criteria Immunoglobulin G Deficiency

Protein-losing Enteropathy as a Complication and/or Differential Diagnosis of Common Variable Immunodeficiency.

J Clin Immunol 2022 Jun 23. Epub 2022 Jun 23.

Université de Lille, UFR Médecine, 59000, Lille, France.

As protein-losing enteropathy (PLE) can lead to hypogammaglobulinemia and lymphopenia, and since common variable immunodeficiency (CVID) is associated with digestive complications, we wondered if (1) PLE could occur during CVID and (2) specific features could help determine whether a patient with antibody deficiency has CVID, PLE, or both. Eligible patients were thus classified in 3 groups: CVID + PLE (n = 8), CVID-only (= 19), and PLE-only (n = 13). PLE was diagnosed using fecal clearance of α1-antitrypsin or 111In-labeled albumin. Read More

View Article and Full-Text PDF

Indicators of Immune and Neurohumoral Profile in Women of Fertile Age with Functional Disorders of the Autonomic Nervous System Associated with Polymorphic Variants of the HTR2A (rs7997012) and TP53 (rs1042522) Genes.

Bull Exp Biol Med 2022 Jun 23. Epub 2022 Jun 23.

State Scientific Center of Medical and Preventive Health Risk Management Technologies, Perm, Russia.

In women of fertile age with functional disorders of the autonomic nervous system (ANS), a complex of indicators of the immune and neurohumoral profile associated with polymorphic variants of the HTR2A (rs7997012) and TP53 (rs1042522) genes was revealed. In patients with the diagnosis "G90.8. Read More

View Article and Full-Text PDF

coinfection is associated with improved IgE and IgG3 response against hookworm antigens.

Health Sci Rep 2022 Jul 14;5(4):e672. Epub 2022 Jun 14.

Department of Biomedical Sciences, School of Allied Health Sciences University of Cape Coast Cape Coast Ghana.

Background: and Hookworm infections are prevalent in West Africa and they cause iron deficiency anemia and protein malnutrition in Children. Immune response of these parasites interact and their interactions could have repercussions on vaccine development and efficacy. The current goal of hookworm eradication lies on vaccination. Read More

View Article and Full-Text PDF

A Novel BLNK Gene Mutation in a Four-Year-Old Child Who Presented with Late Onset of Severe Infections and High IgM Levels and Diagnosed and Followed as X-Linked Agammaglobulinemia for Two Years.

Case Reports Immunol 2022 10;2022:7313009. Epub 2022 Jun 10.

Department of Pediatrics, Faculty of Medicine, Ege University, Izmir, Turkey.

Agammaglobulinemia is a rare inherited immunodeficiency disorder. Mutations in the BLNK gene cause low levels of mature B lymphocytes in the peripheral blood leading to recurrent infections. We present a four-year-old Turkish boy who had recurrent respiratory tract infections in the last six months. Read More

View Article and Full-Text PDF

Age and gender associated changes in immunoglobulin subclass levels specific to S. pneumoniae, serotype 1.

Comp Immunol Microbiol Infect Dis 2022 Jun 2;87:101834. Epub 2022 Jun 2.

Institute of Virology, Vaccines and Sera, Torlak, Vojvode Stepe 458, 11000 Belgrade, Serbia; Institute for Medical Research, National Institute of Republic of Serbia, University of Belgrade, Dr. Subotića 4, POB 39, 11129 Belgrade 102, Serbia. Electronic address:

S. pneumoniae is an important human pathogen which has a polysaccharide capsule with virulent properties. This work aims to estimate the titres of S. Read More

View Article and Full-Text PDF

Defining Clinical and Immunological Predictors of Poor Immune Responses to COVID-19 mRNA Vaccines in Patients with Primary Antibody Deficiency.

J Clin Immunol 2022 Jun 17. Epub 2022 Jun 17.

Section of Rheumatology, Allergy & Immunology, Department of Internal Medicine, Yale University School of Medicine, 300 Cedar Street, New Haven, Connecticut, 06520, USA.

Immune responses to coronavirus disease 2019 (COVID-19) mRNA vaccines in primary antibody deficiencies (PADs) are largely unknown. We investigated antibody and CD4 T-cell responses specific for SARS-CoV-2 spike protein (S) before and after vaccination and associations between vaccine response and patients' clinical and immunological characteristics in PADs. The PAD cohort consisted of common variable immune deficiency (CVID) and other PADs, not meeting the criteria for CVID diagnosis (oPADs). Read More

View Article and Full-Text PDF

Immune Alterations in a Patient With Hyperornithinemia-Hyperammonemia-Homocitrullinuria Syndrome: A Case Report.

Front Immunol 2022 27;13:861516. Epub 2022 May 27.

Centro de Investigaciones en Bioquímica Clínica e Inmunología (CIBICI-CONICET), Facultad de Ciencias Químicas, Universidad Nacional de Córdoba, Córdoba, Argentina.

The hyperornithinemia-hyperammonemia-homocitrullinuria (HHH) syndrome is a rare autosomal recessive inborn error of the urea cycle caused by mutations in the gene. Besides the well-known metabolic complications, patients often present intercurrent infections associated with acute hyperammonemia and metabolic decompensation. However, it is currently unknown whether intercurrent infections are associated with immunological alterations besides the known metabolic imbalances. Read More

View Article and Full-Text PDF

Dynamic monitoring and a clinical correlation analysis of the serum vitamin A, D, and E levels in children with recurrent respiratory tract infections.

Am J Transl Res 2022 15;14(5):3533-3538. Epub 2022 May 15.

Department of Pediatrics, Cangzhou Central Hospital Cangzhou, China.

Objective: To investigate the correlation of the serum vitamin A, D, and E (VA, VD, and VE) levels with the occurrence and development of recurrent respiratory tract infections (RRTIs).

Methods: A total of 129 children with respiratory tract infections (RTIs) treated in our hospital from January 2018 to February 2020 (the RTIs group) and 50 healthy children undergoing physical examinations (the control group) in our hospital were recruited as the study cohort. The serum VA, VD, and VE levels were measured upon admission (the active phase) and at two weeks after discharge (the stable phase). Read More

View Article and Full-Text PDF

Pediatric Celiac Disease and Selective IgA Deficiency: Unexpected Sequence of Events.

J Clin Immunol 2022 Jun 14. Epub 2022 Jun 14.

Hans Christian Andersen Children's Hospital, Odense University Hospital, Kloevervaenget 23C, 5000, Odense C, Denmark.

Purpose: Selective IgA deficiency (IgAD) is the most common primary immunodeficiency, frequently leading to only minor clinical complaints. IgAD may be associated with autoimmune diseases such as celiac disease (CeD). Although IgAD is thought to precede CeD and autoimmunity, the association between the two conditions has not been clarified. Read More

View Article and Full-Text PDF

Selective Immunoglobulin A Deficiency and the Microbiome.

Crit Rev Immunol 2021 ;41(6):1-12

Department of Medicine, Division of Allergy & Clinical Immunology, National Jewish Health, 1400 Jackson St., Denver, CO 80206, USA.

Selective immunoglobulin A (IgA) deficiency (SIgAD) is the most common primary immunodeficiency disease with a prevalence of about 1:500 individuals. SIgAD is heterogeneous, though thought to be due to a defect in the differentiation of IgA-bearing B lymphocytes into IgA-secreting plasma cells which provide a first line of defense against bacterial and viral pathogens. Although SIgAD was for a long time considered asymptomatic, longitudinal studies have revealed that about 80% of patients are symptomatic and can present with a range of phenotypes including allergic disease, recurrent bacterial respiratory tract infections, gastrointestinal disorders, and autoimmune diseases. Read More

View Article and Full-Text PDF

Maternal gut microbiome-induced IgG regulates neonatal gut microbiome and immunity.

Sci Immunol 2022 Jun 10;7(72):eabh3816. Epub 2022 Jun 10.

Drukier Institute for Children's Health, Weill Cornell Medicine, New York, NY, USA.

The gut microbiome elicits antigen-specific immunoglobulin G (IgG) at steady state that cross-reacts to pathogens to confer protection against systemic infection. The role of gut microbiome-specific IgG antibodies in the development of the gut microbiome and immunity against enteric pathogens in early life, however, remains largely undefined. In this study, we show that gut microbiome-induced maternal IgG is transferred to the neonatal intestine through maternal milk via the neonatal Fc receptor and directly inhibits colonization and attachment to the mucosa. Read More

View Article and Full-Text PDF

Prevalence of Coeliac Disease in Omani Adults with Iron Deficiency Anaemia of Unknown Cause: Case-finding study.

Sultan Qaboos Univ Med J 2022 May 26;22(2):262-267. Epub 2022 May 26.

Department of Family Medicine & Public Health, Sultan Qaboos University Hospital, Muscat, Oman.

Objectives: This study aimed to estimate the serological prevalence of coeliac disease in patients with iron deficiency anaemia (IDA) of unknown cause at a primary healthcare facility in Oman.

Methods: This prospective case-finding study was conducted at the primary care clinics in Sultan Qaboos University Hospital, Muscat, Oman from September 2018 to June 2020. Patients aged 18 to 55 years, with a haemoglobin (Hb) level <11. Read More

View Article and Full-Text PDF

Persistent Hyper IgA as a Marker of Immune Deficiency: A Case Report.

Antibodies (Basel) 2022 Apr 25;11(2). Epub 2022 Apr 25.

Children's Hospital and Medical Center, Department of Pediatrics, University of Nebraska Medical Center, Omaha, NE 68198, USA.

An elevated IgA level obtained in a 10-year-old male a year after an episode of pneumococcal sepsis led to the discovery of a broad-based IgG-specific antibody deficiency syndrome. The specifics of the case and pertinent literature are presented, including a discussion of the hyper-IgD syndrome. An elevated IgA, greater than two standard deviations above the expected age range should prompt a complete workup for selective antibody deficiency syndrome and adds an additional associated marker of an indolent hyper-IgD syndrome in a different clinical circumstance, although the lack of antibody response to vaccines is atypical of the hyper-IgD syndrome. Read More

View Article and Full-Text PDF

The impact of IgG subclass deficiency on the risk of mortality in hospitalized patients with COPD.

Respir Res 2022 May 31;23(1):141. Epub 2022 May 31.

Centre for Heart Lung Innovation, University of British Columbia, St. Paul's Hospital, Vancouver, BC, Canada.

Background: Immunoglobulin G (IgG) deficiency increases the risk of acute exacerbations and mortality in chronic obstructive pulmonary disease (COPD). However, the impact of IgG subclass deficiency on mortality in COPD is unknown. Here, we determined which IgG subclass, if any, is associated with increased risk of mortality in COPD. Read More

View Article and Full-Text PDF

Clearance of Persistent SARS-CoV-2 RNA Detection in a NFκB-Deficient Patient in Association with the Ingestion of Human Breast Milk: A Case Report.

Viruses 2022 05 13;14(5). Epub 2022 May 13.

Laboratory of Pediatric Immunology, Center for Investigation in Pediatrics, Faculty of Medical Sciences, University of Campinas, Campinas 13083-887, Brazil.

Currently, there are no evidence-based treatment options for long COVID-19, and it is known that SARS-CoV-2 can persist in part of the infected patients, especially those with immunosuppression. Since there is a robust secretion of SARS-CoV-2-specific highly-neutralizing IgA antibodies in breast milk, and because this immunoglobulin plays an essential role against respiratory virus infection in mucosa cells, being, in addition, more potent in neutralizing SARS-CoV-2 than IgG, here we report the clinical course of an NFκB-deficient patient chronically infected with the SARS-CoV-2 Gamma variant, who, after a non-full effective treatment with plasma infusion, received breast milk from a vaccinated mother by oral route as treatment for COVID-19. After such treatment, the symptoms improved, and the patient was systematically tested negative for SARS-CoV-2. Read More

View Article and Full-Text PDF

Endothelial β-Catenin Deficiency Causes Blood-Brain Barrier Breakdown Enhancing the Paracellular and Transcellular Permeability.

Front Mol Neurosci 2022 9;15:895429. Epub 2022 May 9.

Shenzhen Key Laboratory of Biomimetic Materials and Cellular Immunomodulation, Institute of Biomedicine and Biotechnology, Shenzhen Institute of Advanced Technology, Chinese Academy of Sciences, Shenzhen, China.

Disruption of the blood-brain barrier (BBB) causes or contributes to neuronal dysfunction and several central nervous system (CNS) disorders. Wnt/β-catenin signaling is essential for maintaining the integrity of the adult BBB in physiological and pathological conditions, including stroke. However, how the impairment of the endothelial Wnt/β-catenin signaling results in BBB breakdown remains unclear. Read More

View Article and Full-Text PDF

Regulatory T and B cells in transient hypogammaglobulinemia of infancy.

Turk J Pediatr 2022 ;64(2):228-238

Division of Immunology and Allergy, Department of Pediatrics, Selcuk University Faculty of Medicine, Konya, Turkey.

Background: Transient hypogammaglobulinemia of infancy (THI) is a heterogeneous disorder caused by an abnormal delay in reaching normal IgG levels in the first three years of life. Although THI is a common primary immune deficiency, its pathogenesis has not been fully elucidated. We aimed to investigate the role of regulatory T cells (Tregs) and B cells (Bregs) in the pathogenesis of THI. Read More

View Article and Full-Text PDF
January 2022

Analysis of Clinical and Genetic Characterization of Three Ataxia-Telangiectasia Pedigrees With Novel Gene Mutations.

Front Pediatr 2022 2;10:877826. Epub 2022 May 2.

Department of Pediatrics, The Second Xiangya Hospital of Central South University, Changsha, China.

Objective: The clinical manifestations of ataxia-telangiectasia (AT) are very complex and are easily misdiagnosed and missed. The purpose of this study was to explore the clinical characteristics and genetic features of five pediatric patients with AT from three pedigrees in china.

Methods: Retrospectively collected and analyzed the clinical data and genetic testing results of five AT patients diagnosed by the Whole-exome sequencing followed by Sanger sequencing. Read More

View Article and Full-Text PDF

Association of hepatitis B vaccine response to vitamin D supplementation and ultraviolet B (UVB) exposure during different time intervals in experimental animals.

Immunol Res 2022 May 19. Epub 2022 May 19.

Department of Immunology and Allergy, Medical Research Institute, Alexandria University, 165 El-Horreya Avenue, El Hadara, Alexandria, 21561, Egypt.

The implications of vitamin D deficiency on the immune system have become clearer in recent years, being associated with less immune response following HBV vaccine. We aimed to elucidate the effect of vitamin D supplementation and UVB exposure on short- and long-term performance of hepatitis B vaccine. Forty-five male rabbits were randomly divided into 3 groups that were immunized with recombinant HBsAg. Read More

View Article and Full-Text PDF

Intranasal administration of a recombinant RBD vaccine induces long-term immunity against Omicron-included SARS-CoV-2 variants.

Signal Transduct Target Ther 2022 05 17;7(1):159. Epub 2022 May 17.

Laboratory of Aging Research and Cancer Drug Target, State Key Laboratory of Biotherapy and Cancer Center, National Clinical Research Center for Geriatrics, West China Hospital, Sichuan University, 610041, Chengdu, China.

The outbreak of coronavirus disease 2019 (COVID-19) has posed great threats to global health and economy. Several effective vaccines are available now, but additional booster immunization is required to retain or increase the immune responses owing to waning immunity and the emergency of new variant strains. The deficiency of intramuscularly delivered vaccines to induce mucosal immunity urged the development of mucosal vaccines. Read More

View Article and Full-Text PDF

To DGP-IgG or not? a comparison of TTG-IgA and DGP-IgG.

Clin Chim Acta 2022 Jun 10;531:382-385. Epub 2022 May 10.

Department of Laboratories, Seattle Children's Hospital, Seattle, WA, United States; Department of Laboratory Medicine and Pathology, University of Washington, Seattle, WA, United States.

Background: We assessed the diagnostic utility of deamidated gliadin peptide immunoglobulin G (DGP-IgG) in pediatric patients without immunoglobulin A deficiency who underwent tissue transglutaminase immunoglobulin A (TTG-IgA) screening and biopsy.

Methods: Patients who had TTG-IgA performed in our laboratory had sample frozen over 1.5 y. Read More

View Article and Full-Text PDF

Easy approach to detect cell immunity to COVID vaccines in common variable immunodeficiency patients.

Allergol Immunopathol (Madr) 2022 1;50(3):101-105. Epub 2022 May 1.

Department of Allergy, Hospital Universitario de Canarias, San Cristóbal de La Laguna, Spain;

Background: Patients with primary antibody deficiencies, such as Common Variable Immunodeficiency (CVID), have some problems to assess immune response after coronavirus disease (COVID) vaccination. Cutaneous delayed-type hypersensitivity (DTH) has the potential to be used as a useful, simple, and cheaper tool to assess T-cell (T lymphocyte) function.

Methods: Seventeen patients with CVID, a rare disease, received two doses of the mRNA-based Pfizer-BioNTech COVID-19 vaccine. Read More

View Article and Full-Text PDF

Simultaneous quantification of plasma immunoglobulin subclasses for assessment of maternal and fetal immune response during pregnancy.

J Chromatogr A 2022 Jun 29;1673:463096. Epub 2022 Apr 29.

School of Environment, Guangdong Key Laboratory of Environmental Pollution and Health, Jinan University, Guangzhou 510632, China.

Measurement of immunoglobulin subclasses is a useful tool for exploring humoral immune deficiency in the presence of total immunoglobulins within reference intervals. Conventional methods for immunoglobulin measurement are mostly immunoassays, which are of low throughput and laborious to run multiple immunoglobulin subclass tests. Liquid chromatography-mass spectrometry (LC-MS) has emerged as a promising technology for the measurement of protein biomarkers in biological matrices, owing to its high specificity, selectivity, multiplexing, and wide dynamic range. Read More

View Article and Full-Text PDF

Anti-TFPI for hemostasis induction in patients with rare bleeding disorders, an ex vivo thrombin generation (TG) guided pilot study.

Blood Cells Mol Dis 2022 Jul 12;95:102663. Epub 2022 Apr 12.

National Hemophilia Center, Sheba Medical Center, Tel Hashomer, Israel; Amalia Biron Research Institute of Thrombosis and Hemostasis, Sackler School of Medicine, Tel Aviv University, Israel. Electronic address:

Background: Rare bleeding disorders (RBD) are inherited coagulopathies, whose hemostatic control is based upon replacement therapy. Marstacimab (PF-06741086) is a human monoclonal IgG that targets the Kunitz2 domain of tissue factor pathway inhibitor [TFPI]. Marstacimab is currently in development for bleeding prophylaxis in patients with hemophilia. Read More

View Article and Full-Text PDF

Impaired SARS-CoV-2-specific T-cell reactivity in patients with cirrhosis following mRNA COVID-19 vaccination.

JHEP Rep 2022 Jul 27;4(7):100496. Epub 2022 Apr 27.

Department of Infectious Diseases, Institute of Biomedicine, Sahlgrenska Academy, University of Gothenburg, Gothenburg, Sweden.

Background & Aims: Cirrhosis entails elevated risk of COVID-19-associated mortality. This study determined T cell-mediated and antibody reactivity against the spike 1 (S1) protein of SARS-CoV-2 among 48 patients with cirrhosis and 39 healthy controls after mRNA COVID-19 vaccination.

Methods: SARS-CoV-2-specific T-cell reactivity was measured by induced level of T cell-derived interferon-γ (IFN-γ) in blood cells stimulated with multimeric peptides spanning the N-terminal portion of S1. Read More

View Article and Full-Text PDF

Intravenous Immunoglobulins Promote an Expansion of Monocytic Myeloid-Derived Suppressor Cells (MDSC) in CVID Patients.

J Clin Immunol 2022 Apr 29. Epub 2022 Apr 29.

Myeloid Cell Laboratory, Centro de Investigaciones Biológicas, CSIC, Ramiro de Maeztu, 9, 28040, Madrid, Spain.

Common variable immunodeficiency disorders (CVID), the most common primary immune deficiency, includes heterogeneous syndromes characterized by hypogammaglobulinemia and impaired antibody responses. CVID patients frequently suffer from recurrent infections and inflammatory conditions. Currently, immunoglobulin replacement therapy (IgRT) is the first-line treatment to prevent infections and aminorate immune alterations in CVID patients. Read More

View Article and Full-Text PDF

Emicizumab enhances thrombus formation in vitro under high shear flow conditions in whole blood from patients with type 1 and type 3 von Willebrand disease.

Haemophilia 2022 Apr 27. Epub 2022 Apr 27.

Department of Pediatrics, Nara Medical University, Kashihara, Nara, Japan.

Introduction: Type 1 and type 3 von Willebrand disease (VWD) are caused by partial and complete, quantitative deficiency of von Willebrand factor (VWF), respectively, and factor (F)VIII/VWF complex concentrates are used for haemostatic treatment. Emicizumab, mimics activated FVIII, reduces bleeding in haemophilia A patients. The effects of emicizumab on haemostasis in both types of VWD remain to be fully established, however. Read More

View Article and Full-Text PDF

Extramedullary plasmacytoma with colonic involvement: experience of two cases in a tertiary hospital.

Rev Esp Enferm Dig 2022 Apr 26. Epub 2022 Apr 26.

Aparato Digestivo, Hospital Clínico Universitario Virgen de la Arrixaca, España.

A 71-year-old woman diagnosed with type II diabetes mellitus with severe iron deficiency anemia and positive fecal occult blood. Colonoscopy was performed, showing a soft mass (figure A) in the ascending colon, with biopsies compatible with plasmacytoma and restriction for Kappa light chains (figure C and D). After bone marrow aspiration, associated IgG multiple myeloma was detected, so chemotherapy with VMP (Bortezomib, Melphalan and Prednisone) was started. Read More

View Article and Full-Text PDF

Case Report: X-Linked SASH3 Deficiency Presenting as a Common Variable Immunodeficiency.

Front Immunol 2022 8;13:881206. Epub 2022 Apr 8.

Immunology Division, Vall d'Hebron University Hospital (HUVH), Vall d'Hebron Barcelona Hospital, Barcelona, Spain.

SASH3 is a lymphoid-specific adaptor protein. In a recent study, SASH3 deficiency was described as a novel X-linked combined immunodeficiency with immune dysregulation, associated with impaired TCR signaling and thymocyte survival in humans. The small number of patients reported to date showed recurrent sinopulmonary, cutaneous and mucosal infections, and autoimmune cytopenia. Read More

View Article and Full-Text PDF

IgA deficiency and autoimmune comorbidities in Juvenile Idiopathic Arthritis.

An Pediatr (Engl Ed) 2022 Apr 19. Epub 2022 Apr 19.

Unidad de Reumatología pediátrica, Servicio de Pediatría, Hospital Universitario 12 de Octubre, Madrid, Spain; Departamento de Salud Pública y Materno-Infantil, Universidad Complutense de Madrid, Spain.

Objectives: (1) To describe the prevalence of IgA deficiency (IgAD), uveitis, coeliac disease (CD) and thyroid disorders in a multicentric cohort of patients diagnosed with JIA and, (2) to evaluate whether patients with JIA and IgAD present other autoimmune diseases more frequently than patients with normal serum levels of IgA.

Methods: Retrospective chart review of a cohort of patients diagnosed with JIA followed at the paediatric rheumatology units of two hospitals in Madrid, Spain.

Results: A total of 193 patients were included. Read More

View Article and Full-Text PDF