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    4197 results match your criteria Immunoglobulin A Deficiency

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    Antibiotic Prophylaxis, Immunoglobulin Substitution and Supportive Measures Prevent Infections in MECP2 Duplication Syndrome.
    Pediatr Infect Dis J 2017 Sep 20. Epub 2017 Sep 20.
    1Pediatric Pneumology, Immunology and Intensive Care Medicine, Charité University Medicine Berlin, Germany 2Labor Berlin GmbH, Department of Immunology, Berlin, Germany 3Brandenburg Center for Regenerative Therapies (BCRT), Charité University Medicine Berlin, Germany 4Sozialpädiatrisches Zentrum, Charité University Medicine Berlin, Germany.
    Respiratory infections are the main cause of early death in patients with MECP2 duplication syndrome. We report on a 20-year-old patient with MECP2 duplication syndrome, IgG2/IgG4/IgA/IgM-deficiency and polysaccharide-specific-antibody-deficiency, who had 46 episodes of pneumonia in his first 13 years of life. Immunoglobulin substitution, daily antibiotic prophylaxis with two agents and supportive measures reduced occurrence of pneumonia to 4 episodes in the following 6 years of life. Read More

    Chylothorax after pediatric cardiac surgery complicates short-term but not long-term outcomes-a propensity matched analysis.
    J Thorac Dis 2017 Aug;9(8):2466-2475
    Department of Anesthesiology and Pediatric Intensive Care, Gottsegen György Hungarian Institute of Cardiology, Budapest, Hungary.
    Background: The occurrence of postoperative chylothorax in children with congenital heart disease is a rare and serious complication in cardiac intensive care units (ICUs). The aim of our study was to identify the perioperative characteristics, treatment options, resource utilization and long term complications of patients having chylothorax after a pediatric cardiac surgery.

    Methods: Patients were retrospectively assessed for the presence of chylothorax between January 2002 and December 2012 in a tertiary national cardiac center. Read More

    CCCTC-Binding Factor Locks Premature IgH Germline Transcription and Restrains Class Switch Recombination.
    Front Immunol 2017 4;8:1076. Epub 2017 Sep 4.
    B Lymphocyte Biology Laboratory, Fundacion Centro Nacional de Investigaciones Cardiovasculares Carlos III, Madrid, Spain.
    In response to antigenic stimulation B cells undergo class switch recombination (CSR) at the immunoglobulin heavy chain (IgH) to replace the primary IgM/IgD isotypes by IgG, IgE, or IgA. CSR is initiated by activation-induced cytidine deaminase (AID) through the deamination of cytosine residues at the switch (S) regions of IgH. B cell stimulation promotes germline transcription (GLT) of specific S regions, a necessary event prior to CSR because it facilitates AID access to S regions. Read More

    Selective IgM Deficiency-An Underestimated Primary Immunodeficiency.
    Front Immunol 2017 5;8:1056. Epub 2017 Sep 5.
    Program in Primary Immunodeficiency and Aging, Division of Basic and Clinical Immunology, University of California at Irvine, Irvine, CA, United States.
    Although selective IgM deficiency (SIGMD) was described almost five decades ago, it was largely ignored as a primary immunodeficiency. SIGMD is defined as serum IgM levels below two SD of mean with normal serum IgG and IgA. It appears to be more common than originally realized. Read More

    Targeted deletion of RANKL in M cell inducer cells by the Col6a1-Cre driver.
    Biochem Biophys Res Commun 2017 Sep 5. Epub 2017 Sep 5.
    Department of Immunology, Graduate School of Medicine and Faculty of Medicine, The University of Tokyo, Hongo 7-3-1, Bunkyo-ku, Tokyo, 113-0033, Japan. Electronic address:
    The gut-associated lymphoid tissues (GALTs), including Peyer's patches (PPs), cryptopatches (CPs) and isolated lymphoid follicles (ILFs), establish a host-microbe symbiosis by the promotion of immune reactions against gut microbes. Microfold cell inducer (MCi) cells in GALTs are the recently identified mesenchymal cells that express the cytokine RANKL and initiate bacteria-specific immunoglobulin A (IgA) production via induction of microfold (M) cell differentiation. In the previous study, the Twist2-Cre driver was utilized for gene deletion in mesenchymal cells including MCi cells. Read More

    Immunoglobulin levels and infection risk with rituximab induction for anti-neutrophil cytoplasmic antibody-associated vasculitis.
    Clin Kidney J 2017 Aug 12;10(4):470-474. Epub 2017 Apr 12.
    Department of Nephrology, Johns Hopkins University School of Medicine, Baltimore, MD, USA.
    Background: Rituximab (RTX), a B cell-depleting anti-CD20 monoclonal antibody, is approved for treatment of anti-neutrophil cytoplasmic antibody (ANCA)-associated vasculitis (AAV). Low immunoglobulin (Ig) levels have been observed surrounding RTX treatment. The association between the degree of Ig deficiency and infection risk is unclear in AAV patients. Read More

    Early diagnosis of PI3Kδ syndrome in a 2 years old girl with recurrent otitis and enlarged spleen.
    Immunol Lett 2017 Aug 31;190:279-281. Epub 2017 Aug 31.
    Fondazione Monza e Brianza per il Bambino e la sua Mamma, Ospedale San Gerardo, Monza, Italy; Università degli Studi di Milano-Bicocca, Monza, Italy.
    Heterozygous gain of function mutations in the gene encoding p110δ subunit of PI3K have been recently associated with activated PI3K-δ syndrome (APDS), a novel combined immune deficiency characterized by recurrent sinopulmonary infections, lymphopenia, reduced class-switched memory B cells, lymphadenopathy, CMV and/or EBV viremia and EBV-related lymphoma. Here we report a dominant gain of function PIK3CD mutation (E1021K) in a patient presenting with recurrent otitis media, massive splenomegaly, and persistent EBV-viraemia. The immunological studies showed low IgA level, but normal IgM, IgG, and normal antibody response to diphtheria and tetanus toxoid vaccination. Read More

    A Comparison of Clinical and Immunologic Phenotypes in Familial and Sporadic Forms of Common Variable Immunodeficiency.
    Scand J Immunol 2017 Aug 11. Epub 2017 Aug 11.
    Research Center for Immunodeficiencies, Pediatrics Center of Excellence, Children's Medical Center, Tehran University of Medical Science, Tehran, Iran.
    Common variable immunodeficiency (CVID) is the most frequent symptomatic primary immunodeficiency disease and its prevalence varies significantly among different population. Minority of CVID patients present a familial aggregation suggesting a higher probability of heritable genetic defects. A total of 235 registered CVID patients were evaluated in this cohort study. Read More

    CCR7 Deficiency Allows Accelerated Clearance of Chlamydia from the Female Reproductive Tract.
    J Immunol 2017 Oct 11;199(7):2547-2554. Epub 2017 Aug 11.
    Center for Comparative Medicine, Department of Anatomy, Physiology, and Cell Biology, School of Veterinary Medicine, University of California, Davis, Davis, CA 95616; and.
    Immune mechanisms responsible for pathogen clearance from the female reproductive tract (FRT) are incompletely defined; in particular, the contribution of lymphocyte trafficking to this process is unclear. CCR7-deficient mice have profoundly altered lymphocyte recirculation and display ectopic formation of lymphocyte aggregates within mucosal nonlymphoid tissues, including the FRT. In this study, we investigated how altered lymphocyte distribution in CCR7-deficient mice would affect host responses to Chlamydia muridarum within the reproductive tract. Read More

    Vasculitis update: pathogenesis and biomarkers.
    Pediatr Nephrol 2017 Aug 7. Epub 2017 Aug 7.
    Infection, Inflammation, and Immunology Section, University College London Great Ormond Street Institute of Child Health, 30 Guilford Street, London, WC1N1EH, UK.
    Better understanding of the pathogenesis and treatment of primary systemic vasculitides (PSV) has led to the development of many potentially clinically relevant biomarkers. Genome-wide association studies have highlighted that MHC class II polymorphisms may influence the development of particular anti-neutrophil cytoplasmic antibody (ANCA) serotypes, but not the clinical phenotype of ANCA-associated vasculitis (AAV). Although ANCAs are overall poor biomarkers of disease activity, they may be useful for the prediction of flares of renal and/or pulmonary vasculitis. Read More

    Defective anti-polysaccharide IgG vaccine responses in IgA deficient mice.
    Vaccine 2017 Sep 31;35(37):4997-5005. Epub 2017 Jul 31.
    Department of Immunology and Microbial Disease, Albany Medical College, Albany, NY 12208, USA. Electronic address:
    We report that IgA(-/-) mice exhibit specific defects in IgG antibody responses to various polysaccharide vaccines (Francisella tularensis LPS and Pneumovax), but not protein vaccines such as Fluzone. This defect further included responses to polysaccharide-protein conjugate vaccines (Prevnar and Haemophilus influenzae type b-tetanus toxoid vaccine). In agreement with these findings, IgA(-/-) mice were protected from pathogen challenge with protein- but not polysaccharide-based vaccines. Read More

    Two Sides of the Same Coin: Pediatric-Onset and Adult-Onset Common Variable Immune Deficiency.
    J Clin Immunol 2017 Jul 28. Epub 2017 Jul 28.
    Division of Allergy and Immunology, Children's Hospital of Philadelphia, ARC 1216, 3615 Civic Center Blvd., Philadelphia, PA, 19104, USA.
    Purpose: Common variable immunodeficiency (CVID) is a complex, heterogeneous immunodeficiency characterized by hypogammaglobulinemia, recurrent infections, and poor antibody response to vaccination. While antibiotics and immunoglobulin prophylaxis have significantly reduced infectious complications, non-infectious complications of autoimmunity, inflammatory lung disease, enteropathy, and malignancy remain of great concern. Previous studies have suggested that CVID patients diagnosed in childhood are more severely affected by these complications than adults diagnosed later in life. Read More

    CCR6 Deficiency Impairs IgA Production and Dysregulates Antimicrobial Peptide Production, Altering the Intestinal Flora.
    Front Immunol 2017 11;8:805. Epub 2017 Jul 11.
    Taiwan International Graduate Program in Molecular Medicine, National Yang-Ming University and Academia Sinica, Taipei, Taiwan.
    Intestinal immunity exists as a complex relationship among immune cells, epithelial cells, and microbiota. CCR6 and its ligand-CCL20 are highly expressed in intestinal mucosal tissues, such as Peyer's patches (PPs) and isolated lymphoid follicles (ILFs). In this study, we investigated the role of the CCR6-CCL20 axis in intestinal immunity under homeostatic conditions. Read More

    Serum Vitamins and Minerals at Diagnosis and Follow-up in Children With Celiac Disease.
    J Pediatr Gastroenterol Nutr 2017 Aug;65(2):185-189
    *Section of Pediatric Gastroenterology, Department of Pediatrics and Child Health, Max Rady College of Medicine, Rady Faculty of Health Sciences†Departments of Internal Medicine and Pathology, Max Rady College of Medicine, University of Manitoba‡Children's Hospital Research Institute of Manitoba, Winnipeg, Manitoba, Canada§Department of Pediatrics, University of Alexandria, Egypt.
    Objectives: Children with celiac disease (CD) may experience deficiencies of several micronutrients. The objectives of the present study were to determine the prevalence of micronutrient deficiencies in children with CD at diagnosis, 6 months, and 18 months after the start of a gluten-free diet (GFD), and examine any correlation between micronutrient deficiencies, serum tissue transglutaminase (TtG) immunoglobulin A (IgA) antibody titers, and the degree of mucosal damage at diagnosis.

    Methods: Children (<17 years) with CD had their serum vitamins, minerals, and anti-TtG IgA antibodies measured at diagnosis, 6 and 18 months after starting a GFD. Read More

    Brucella Causing Liver Abscess in a Child with Selective IgA Deficiency.
    Indian Pediatr 2017 Jul;54(7):595-596
    Department of Pediatric Medicine, Institute of Child Health, Kolkata, West Bengal, India. Correspondence to: Dr Devdeep Mukherjee, Uttara Cooperative Housing Society, 13, Broad Street, Kolkata 700 019, West Bengal, India.
    Background: Brucella has been known to cause pyrexia of unknown origin.

    Case Characteristics: 9-year-old boy with fever and abdominal pain; multiple abscesses within the liver on ultrasonography.

    Observations: IgM Antibodies against Brucella were raised in his serum sample, and Brucella serum agglutination test was positive. Read More

    Selective IgM Deficiency: Clinical and Laboratory Features of 17 Patients and a Review of the Literature.
    J Clin Immunol 2017 Jul 21. Epub 2017 Jul 21.
    Department of Clinical Immunology and Allergy, St. Anne's University Hospital in Brno, Pekarska 53, 65691, Brno, Czech Republic.
    Purpose: Primary selective IgM deficiency (sIgMD) is a primary immunodeficiency with unclear pathogenesis and a low number of published cases.

    Methods: We reviewed clinical and laboratory manifestations of 17 sIgMD patients. Serum IgM, IgG, and its subclasses, IgA, IgE, antibodies against tetanus toxoid, pneumococcal polysaccharides and Haemophilus influenzae type b, isohemagglutinins, and T and B lymphocyte subsets, expressions of IgM on B cells and B lymphocyte production of IgM were compared with previously reported case reports and a small series of patients, which included 81 subjects in total. Read More

    Cernunnos deficiency associated with BCG adenitis and autoimmunity: First case from the national Iranian registry and review of the literature.
    Clin Immunol 2017 Jul 17;183:201-206. Epub 2017 Jul 17.
    Research Center for Immunodeficiencies, Pediatrics Center of Excellence, Children's Medical Center, Tehran University of Medical Science, Tehran, Iran. Electronic address:
    Non-homologous end-joining (NHEJ) is a pathway that repairs double-strand breaks (DSB) in DNA and plays a vital role in V(D)J recombination of immunoglobulin genes. Cernunnos is a DNA repair factor that is involved in nonhomologous end-joining (NHEJ) process. Impairment in Cernunnos leads to a genetic disease characterized by neural disorders, immunodeficiency and increased radiosensitivity. Read More

    X-Linked Agammaglobulinaemia: Outcomes in the modern era.
    Clin Immunol 2017 Jul 17;183:54-62. Epub 2017 Jul 17.
    Institute of Cellular Medicine, Newcastle University, 4th Floor, William Leech Building, Medical School, Framlington Place, Newcastle upon Tyne NE2 4HH, United Kingdom.
    Colonel Ogden Bruton reported X-Linked Agammaglobulinaemia in 1952 and treated the child with replacement immunoglobulin therapy. Over 60years later, the treatment for XLA has largely remained unchanged. Replacement immunoglobulin lacks the isotypes IgA and IgM, leading to concerns that patients continue to experience recurrent sinopulmonary tract infections and be at increased risk of bronchiectasis. Read More

    Mannose-Binding Lectin Levels Could Predict Prognosis in IgA Nephropathy.
    J Am Soc Nephrol 2017 Jul 11. Epub 2017 Jul 11.
    Renal Division, Department of Medicine, Peking University First Hospital, Beijing, China.
    IgA nephropathy (IgAN) is characterized by infections followed by episodic gross hematuria. Deficiency of mannose-binding lectin (MBL) is associated with recurrent infection in many diseases, but controversy exists regarding the role of MBL in IgAN. Here, we measured MBL2 variants and MBL levels in 749 patients with IgAN and 489 healthy controls. Read More

    Oral manifestations of selective IgA-deficiency: review and case-report.
    J Biol Regul Homeost Agents 2017 Apr-Jun;31(2 Suppl 1):113-117
    Department of Surgical and Morphological Sciences, University of Insubria, Ospedale di Circolo Macchi Foundation, Unit of Oral Pathology, Varese, Italy.
    Immunoglobulin A deficiency is the most common primary immunodeficiency defined as decreased serum level of IgA (less than 7 mg/dl) in the presence of normal levels of other immunoglobulin isotypes. Most individuals with IgA deficiency are asymptomatic and identified coincidentally. However, some patients may present with recurrent infections, allergic disorders and autoimmune manifestations, such as diabetes mellitus, Graves disease and celiac disease. Read More

    [Clinical and immunological profile of 15 Moroccan patients with Hyper IgM syndrome].
    Pan Afr Med J 2017 19;26:212. Epub 2017 Apr 19.
    Laboratoire d'Immunologie Clinique, Inflammation et Allergie, Faculté de Médecine et Pharmacie, Université Hassan II, Casablanca, Maroc.
    Hyper IgM syndrome is a well known genetic (primary) immunodeficiency disorder which was first described in 1961. It is caused by B lymphocyte deficiency characterized by normal or elevated serum IgM levels and low or zero levels of IgG, IgA, IgE resulting from isotype-switching deficiency. Clinical manifestations are dominated by recurrent infections, especially involving the digestive tube of the ENT sphere and the lungs. Read More

    A unified pathogenesis for kidney diseases, including genetic diseases and cancers, by the protein-homeostasis-system hypothesis.
    Kidney Res Clin Pract 2017 Jun 30;36(2):132-144. Epub 2017 Jun 30.
    Department of Pediatrics, College of Medicine, The Catholic University of Korea, Seoul, Korea.
    Every cell of an organism is separated and protected by a cell membrane. It is proposed that harmony between intercellular communication and the health of an organism is controlled by a system, designated the protein-homeostasis-system (PHS). Kidneys consist of a variety of types of renal cells, each with its own characteristic cell-receptor interactions and producing characteristic proteins. Read More

    Vitamin D-deficiency and sex-specific dysregulation of placental inflammation.
    J Steroid Biochem Mol Biol 2017 Jul 1. Epub 2017 Jul 1.
    Dept of Orthopaedic Surgery, David Geffen School of Medicine at UCLA, Los Angeles, CA, 90095, USA; Institute of Metabolism and Systems Research, The University of Birmingham, Birmingham B15 2TT, UK; Centre for Endocrinology, Diabetes and Metabolism, Birmingham Health Partners, Birmingham B15 2TH, UK. Electronic address:
    To investigate an immunomodulatory role for vitamin D in pregnancy we used mice raised on vitamin D-sufficient (SUFF), or -deficient (DEF) diets. At embryonic day 14, pregnant mice received intraperitoneal injection of lipopolysaccharide (LPS) or vehicle for 24h, with age-matched non-pregnant mice as controls. In non-pregnant mice, 6 serum analytes (IL-1β, IL-18, MDC/CCL22, MIP-1α/CCL3, EGF, IgA) were lower in DEF mice. Read More

    Immunological phenotype of the murine Lrba knockout.
    Immunol Cell Biol 2017 Jul 25. Epub 2017 Jul 25.
    Center for Chronic Immunodeficiency (CCI), Medical Center-Faculty of Medicine, University of Freiburg, Freiburg, Germany.
    Biallelic mutations in the human lipopolysaccharide responsive beige-like anchor (LRBA) gene lead to a primary immunodeficiency known as LRBA deficiency, characterized by a broad range of clinical manifestations including autoimmunity, organomegaly, hypogammaglobulinemia and recurrent infections. Considering the phenotypic heterogeneity in patients and the severity of the disease, our aim was to assess the role of LRBA in immune cells and to understand the underlying pathomechanisms through the study of a Lrba knockout (Lrba(-/-)) mouse model. LRBA-deficient mice did not show severe clinical or immunological signs of disease, either at steady state under specific-pathogen-free conditions, after vaccination with T-dependent and T-independent antigens, or in the context of acute infections with lymphocytic choriomeningitis virus (LCMV) or Salmonella Typhimurium. Read More

    Autoantibodies against BAFF, APRIL or IL21 - an alternative pathogenesis for antibody-deficiencies?
    BMC Immunol 2017 Jun 26;18(1):34. Epub 2017 Jun 26.
    Centre for Chronic Immunodeficiency, Medical Centre University Hospital, Medical Faculty of Freiburg, Freiburg, Germany.
    Background: The ability of anti-cytokine antibodies to play a disease-causing role in the pathogenesis of immunodeficiencies is widely accepted. The aim of this study was to investigate whether autoantibodies against BAFF (important B cell survival signal), APRIL (important plasma cell survival signal), or Interleukin-21 (important cytokine for immunoglobulin class switch) present an alternative mechanism for the development of the following primary antibody deficiencies (PADs): common variable immune deficiency (CVID) or selective IgA deficiency (sIgAD).

    Results: Two hundred thirty-two sera from patients with PADs were screened for autoantibodies against cytokines by ELISA. Read More

    Concentrations of Pneumococcal IgA and IgM are compromised in some individuals with antibody deficiencies.
    J Immunoassay Immunochem 2017 Jun 15:1-9. Epub 2017 Jun 15.
    e The Binding Site Group Limited , Birmingham , UK.
    The response to pneumococcal vaccination is assessed by measurement of antigen specific IgG only and is compromised in a number of antibody deficiencies. We measured the concentrations of Pneumococcal IgA and IgM in individuals with both normal and abnormal pneumococcal capsular polysaccharide (PCP) IgG concentrations. A higher number of individuals had abnormal pre-vaccination IgA and IgM concentrations below the lower limit of the normal range compared to the control group. Read More

    The renal pathological findings in Japanese HIV-infected individuals with CKD: a clinical case series from a single center.
    Clin Exp Nephrol 2017 Jun 8. Epub 2017 Jun 8.
    Division of Nephrology, Department of Medicine, Tokyo Metropolitan Komagome Hospital, 3-18-22, Honkomagome, Bunkyo-Ku, Tokyo, 113-0021, Japan.
    Background: Chronic kidney diseases (CKD) have emerged as a significant cause of morbidity and mortality in patients infected with human immunodeficiency virus (HIV). However, the detailed study of renal pathological findings currently remains unclear in these Japanese patients.

    Methods: A retrospective cohort study was undertaken to investigate renal pathological findings between January 1996 and July 2016. Read More

    Specific Antibody Deficiency: Controversies in Diagnosis and Management.
    Front Immunol 2017 22;8:586. Epub 2017 May 22.
    Division of Allergy and Immunology, Department of Pediatrics, University of South Florida, Saint Petersburg, FL, USA.
    Specific antibody deficiency (SAD) is a primary immunodeficiency disease characterized by normal immunoglobulins (Igs), IgA, IgM, total IgG, and IgG subclass levels, but with recurrent infection and diminished antibody responses to polysaccharide antigens following vaccination. There is a lack of consensus regarding the diagnosis and treatment of SAD, and its clinical significance is not well understood. Here, we discuss current evidence and challenges regarding the diagnosis and treatment of SAD. Read More

    An Expanded Role for HLA Genes: HLA-B Encodes a microRNA that Regulates IgA and Other Immune Response Transcripts.
    Front Immunol 2017 19;8:583. Epub 2017 May 19.
    Department of Pathology and Laboratory Medicine, The Children's Hospital of Philadelphia, Philadelphia, PA, USA.
    We describe a novel functional role for the HLA-B locus mediated by its intron-encoded microRNA (miRNA), miR-6891-5p. We show that in vitro inhibition of miR-6891-5p impacts the expression of nearly 200 transcripts within the B-lymphoblastoid cell line (B-LCL) COX, affecting a large number of metabolic pathways, including various immune response networks. The top affected transcripts following miR-6891-5p inhibition are those encoding the heavy chain of IgA. Read More

    Novel variant of common variable immunodeficiency.
    BMJ Case Rep 2017 May 27;2017. Epub 2017 May 27.
    Graduate Medical Education, Florida Hospital East Orlando, Orlando, Florida, USA.
    A 57-year-old woman with frequent respiratory infections was initially diagnosed with IgG subclass deficiency based on low levels of IgG subclasses 2 and 3. Three years later, she progressed to having IgA deficiency as well. With a normal total IgG level, she does not meet criteria for common variable immunodeficiency (CVID). Read More

    MST1 deficiency promotes B cell responses by CD4(+) T cell-derived IL-4, resulting in hypergammaglobulinemia.
    Biochem Biophys Res Commun 2017 Jul 17;489(1):56-62. Epub 2017 May 17.
    Division of Life Sciences, College of Life Sciences and Biotechnology, Korea University, Seoul 02841, Republic of Korea. Electronic address:
    MST1 deficiency causes T and B cell lymphopenia, resulting in combined immunodeficiency. However, MST1-deficient patients also exhibit autoimmune-like symptoms such as hypergammaglobulinemia and autoantibody production. Recent studies have shown that the autoimmune responses observed in MST1-deficient patients were most likely attributable to defective regulatory T (Treg) cells instead of intrinsic signals in MST1-lacking B cells. Read More

    Collagenous Gastritis in a Young Female With IgA Deficiency.
    Gastroenterology Res 2017 Apr 19;10(2):126-127. Epub 2017 Apr 19.
    UHS Wilson Medical Center, Binghamton, NY, USA.
    Collagenous gastritis, without colonic involvement, is exceptionally rare. It is not known to be associated with IgA deficiency and scleroderma. This is the first report of this type of association. Read More

    Recurrent respiratory tract infections (RRTI) in the elderly: A late onset mild immunodeficiency?
    Clin Immunol 2017 Jul 6;180:111-119. Epub 2017 May 6.
    Department of Infectious Diseases, Leiden University Medical Center, Leiden, The Netherlands.
    Elderly with late-onset recurrent respiratory tract infections (RRTI) often have specific anti-polysaccharide antibody deficiency (SPAD). We hypothesized that late-onset RRTI is caused by mild immunodeficiencies, such as SPAD, that remain hidden through adult life. We analyzed seventeen elderly RRTI patients and matched controls. Read More

    Acne conglobata in a long-term survivor with trisomy 13, accompanied by selective IgM deficiency.
    Am J Med Genet A 2017 May 7. Epub 2017 May 7.
    Department of Dermatology, Red Cross Sendai Hospital, Sendai, Japan.
    Trisomy 13 (T13) is a congenital chromosomal disorder that is usually fatal within 2 years of birth, and only a few patients have been reported to reach adolescence. Here, we report a male long-term survivor of T13, currently 15 years of age, with a several-year history of extensive acne conglobata (AC) with abscesses on the face and neck. Methicillin-resistant Staphylococcus aureus was consistently isolated from the pustular lesions. Read More

    A Case Report of Hypoglycemia and Hypogammaglobulinemia: DAVID Syndrome in a Patient With a Novel NFKB2 Mutation.
    J Clin Endocrinol Metab 2017 Jul;102(7):2127-2130
    Division of Allergy, Immunology & Rheumatology, Department of Pediatrics, Stanford University School of Medicine, Stanford, California 94305.
    Context: Deficient anterior pituitary with variable immune deficiency (DAVID) syndrome is a rare disorder in which children present with symptomatic adrenocorticotropic hormone (ACTH) deficiency preceded by hypogammaglobulinemia from B-cell dysfunction with recurrent infections, called common variable immunodeficiency (CVID). Subsequent whole exome sequencing studies have revealed germline heterozygous C-terminal mutations of NFKB2 as a cause of DAVID syndrome or of CVID without clinical hypopituitarism. However, to the best of our knowledge there have been no cases in which the endocrinopathy has presented in the absence of a prior clinical history of CVID. Read More

    Implementation of National Institute for Health and Care Excellence (NICE) guidance to measure immunoglobulin A with all coeliac screens: can an affordable solution be devised?
    Clin Exp Immunol 2017 Sep 19;189(3):352-358. Epub 2017 May 19.
    Department of Immunology, Eastbourne Hospital, Eastbourne, East Sussex, UK.
    There has been a dramatic increase in requests for coeliac disease (CD) serological screening using immunoglobulin (Ig)A tissue transglutaminase antibodies (IgA-tTG). Recently, the UK National Institute for Health and Care Excellence has revised its guidance, recommending that total IgA should also be measured in all samples. This is justified, as false-negative results may occur with IgA deficiency. Read More

    Syndrome Differentiation of IgA Nephropathy Based on Clinicopathological Parameters: A Decision Tree Model.
    Evid Based Complement Alternat Med 2017 26;2017:2697560. Epub 2017 Mar 26.
    Renal Division, Guangdong Provincial Hospital of Chinese Medicine, Guangzhou 510120, China.
    Background. IgA nephropathy is the most common cause of primary glomerulonephritis in China, and Traditional Chinese Medicine (TCM) is a vital treatment strategy. However, not all doctors prescribing TCM medicine have adequate knowledge to classify the syndrome accurately. Read More

    Thymoma with immunodeficiency/Good syndrome associated with myasthenia gravis.
    Rinsho Shinkeigaku 2017 May 27;57(5):208-213. Epub 2017 Apr 27.
    Departments of Pathology, International University of Health and Welfare Hospital, Tochigi, Japan.
    Good syndrome is a rare condition in which thymoma is associated with hypogammaglobulinemia; it is characterized by repeated respiratory or systemic infections caused by bacteria, viruses, and fungi, as well as with various autoimmune disorders such as pure red cell aplasia. A 65-year-old woman was admitted to our hospital with ptosis and abdominal muscle weakness. Based on the presence of anti-acetylcholine receptor (Ach-R) antibodies, she was diagnosed with myasthenia gravis (MG). Read More

    Lack of Utility of Anti-tTG IgG to Diagnose Celiac Disease When Anti-tTG IgA Is Negative.
    J Pediatr Gastroenterol Nutr 2017 May;64(5):726-729
    *Division of Pediatric Gastroenterology and Hepatology, College of Medicine †Division of Gastroenterology and Hepatology, Mayo Clinic, Rochester, Minnesota ‡Division of Biomedical Statistics and Informatics §Division of Clinical Biochemistry and Immunology, Department of Laboratory Medicine and Pathology.
    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 2 approaches to address this include measuring "both tTG IgA and tTG IgG" or measuring "total IgA. Read More

    Effect of threonine on secretory immune system using a chicken intestinal ex vivo model with lipopolysaccharide challenge.
    Poult Sci 2017 Sep;96(9):3043-3051
    Department of Animal Sciences, Purdue University, West Lafayette, IN 47906.
    Secretory IgA (sIgA) and its transcytosis receptor, polymeric immunoglobulin receptor (pIgR), along with mucus, form the first lines of intestinal defense. Threonine (Thr) is a major component of intestinal mucins and IgA, which are highly secreted under lipopolysaccharide (LPS) induced inflammation. In the current study, the effect of Thr on the secretory immune system was determined in an ex vivo chicken ileal explant model. Read More

    Allergic and autoimmune disorders in families with selective IgA deficiency.
    Turk J Med Sci 2017 Apr 18;47(2):592-598. Epub 2017 Apr 18.
    Department of Pediatric Allergy and Immunology, Faculty of Medicine, Abant İzzet Baysal University, Bolu, Turkey.
    Background/aim: IgA deficiency is the most common human primary immunodeficiency. The prevalence of allergic disorders and autoimmunity is thought to be increased in selective IgA deficiency (sIgAD). However, it is currently unclear if these disorders coincide within these families. Read More

    Hypersensitivity transfusion reactions due to IgA deficiency are rare according to French hemovigilance data.
    J Allergy Clin Immunol 2017 Sep 13;140(3):884-885. Epub 2017 Apr 13.
    Department of Anesthesia and Intensive Care, Hôpitaux Universitaires de Strasbourg, Nouvel Hôpital Civil, Strasbourg, France. Electronic address:

    Heat stress decreases expression of the cytokines, avian β-defensins 4 and 6 and Toll-like receptor 2 in broiler chickens infected with Salmonella Enteritidis.
    Vet Immunol Immunopathol 2017 Apr 27;186:19-28. Epub 2017 Feb 27.
    Neuroimmunomodulation Research Group, Department of Pathology, School of Veterinary Medicine, University of São Paulo, São Paulo, SP, Brazil.
    A high ambient temperature is a highly relevant stressor in poultry production. Heat stress (HS) has been reported to reduce animal welfare, performance indices and increase Salmonella susceptibility. Salmonella spp. Read More

    The protection role of Atg16l1 in CD11c(+)dendritic cells in murine colitis.
    Immunobiology 2017 Jul 16;222(7):831-841. Epub 2017 Mar 16.
    Department of Gastroenterology, The Second Hospital of Hebei Medical University, Hebei, China. Electronic address:
    The autophagy-related 16-like 1 gene (Atg16l1) is associated with inflammatory bowel disease (IBD) and has been shown to play an essential role in paneth cell function and intestinal homeostasis. However, the functional consequences of Atg16l1 deficiency in myeloid cells, particularly in dendritic cells (DCs), are not fully characterized. The aim of this study is to investigate the functional consequence of Atg16l1 in CD11c(+)DCs in murine colitis. Read More

    Short article: Mortality and differential diagnoses of villous atrophy without coeliac antibodies.
    Eur J Gastroenterol Hepatol 2017 May;29(5):572-576
    aFirst Department of Internal Medicine, Coeliac Centre Departments of bClinical Biochemistry cBiometry and Clinical Epidemiology, Fondazione IRCCS Policlinico San Matteo, University of Pavia, Pavia, Italy.
    Objective: Villous atrophy (VA) of the small bowel is mainly related to coeliac disease (CD), whose diagnosis is made on the basis of positive endomysial/tissue transglutaminase antibodies while on a gluten-containing diet in the vast majority of patients. However, VA can also occur in other conditions whose epidemiology is little known. Our aim was to study the epidemiology and clinical features of these rare enteropathies. Read More

    Delay in diagnosis affects the clinical outcome in a cohort of cvid patients with marked reduction of iga serum levels.
    Clin Immunol 2017 Jul 25;180:1-4. Epub 2017 Mar 25.
    Department of Translational Medical Sciences, Allergy and Clinical Immunology, University of Naples Federico II, Naples, Italy.
    Common variable immunodeficiency disorders (CVID) represent a collection of diseases leading to an absent or strongly impaired antibody production. CVID presents a wide range of immunological abnormalities and clinical manifestations, including infections, inflammatory and autoimmune diseases, and malignancies. The aim of this observational study was to analyze the epidemiological and clinical features of a cohort of 75 Italian CVID patients, and evaluate the correlation with comorbidity and mortality. Read More

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