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    231 results match your criteria Immunoglobulin D Deficiency

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    Metabolic Reprogramming Commits Differentiation of Human CD27(+)IgD(+) B Cells to Plasmablasts or CD27(-)IgD(-) Cells.
    J Immunol 2017 Jul 16;199(2):425-434. Epub 2017 Jun 16.
    First Department of Internal Medicine, School of Medicine, University of Occupational and Environmental Health, Japan, Kitakyushu, Fukuoka 807-8555, Japan;
    B cells play a crucial role in the pathogenesis of autoimmune diseases, such as systemic lupus erythematosus (SLE). However, the relevance of the metabolic pathway in the differentiation of human B cell subsets remains unknown. In this article, we show that the combination of CpG/TLR9 and IFN-α markedly induced the differentiation of CD27(+)IgD(+) unswitched memory B cells into CD27(hi)CD38(hi) plasmablasts. Read More

    A 6-year-old girl diagnosed with mevalonate kinase deficiency who had hydrops fetalis and neonatal-onset cholestasis.
    Nihon Rinsho Meneki Gakkai Kaishi 2017 ;40(2):131-137
    Department of Pediatric Hepatology and Gastroenterology, Saiseikai Yokohamashi Tobu Hospital.
    We experienced a 6-year-old girl diagnosed with mevalonate kinase deficiency (MKD) who had cholestasis, anemia, and elevated inflammatory markers in neonatal period. She was admitted to our hospital because of fever and elevated inflammatory markers at 5 years 11months of age. Without using antibiotics, the fever and the inflammatory markers were spontaneously resolved. Read More

    Endothelial Plasmalemma Vesicle-Associated Protein Regulates the Homeostasis of Splenic Immature B Cells and B-1 B Cells.
    J Immunol 2016 Nov 14;197(10):3970-3981. Epub 2016 Oct 14.
    Department of Microbiology and Immunology, Geisel School of Medicine at Dartmouth, Lebanon, NH 03756;
    Plasmalemma vesicle-associated protein (Plvap) is an endothelial protein with roles in endothelial diaphragm formation and maintenance of basal vascular permeability. At the same time, Plvap has roles in immunity by facilitating leukocyte diapedesis at inflammatory sites and controlling peripheral lymph node morphogenesis and the entry of soluble Ags into lymph node conduits. Based on its postulated role in diapedesis, we have investigated the role of Plvap in hematopoiesis and show that deletion of Plvap results in a dramatic decrease of IgM(+)IgD(lo) B cells in both the spleen and the peritoneal cavity. Read More

    Duplex Quantitative PCR Assay for Detection of Haemophilus influenzae That Distinguishes Fucose- and Protein D-Negative Strains.
    J Clin Microbiol 2016 Sep 22;54(9):2380-3. Epub 2016 Jun 22.
    School of Paediatrics and Child Health, University of Western Australia, Perth, Australia Wesfarmers Centre for Vaccines and Infectious Diseases, Telethon Kids Institute, Perth, Australia
    We have developed a specific Haemophilus influenzae quantitative PCR (qPCR) that also identifies fucose-negative and protein D-negative strains. Analysis of 100 H. influenzae isolates, 28 Haemophilus haemolyticus isolates, and 14 other bacterial species revealed 100% sensitivity (95% confidence interval [CI], 96% to 100%) and 100% specificity (95% CI, 92% to 100%) for this assay. Read More

    Bacterial exploitation of phosphorylcholine mimicry suppresses inflammation to promote airway infection.
    J Clin Invest 2015 Oct 31;125(10):3878-90. Epub 2015 Aug 31.
    Regulation of neutrophil activity is critical for immune evasion among extracellular pathogens, yet the mechanisms by which many bacteria disrupt phagocyte function remain unclear. Here, we have shown that the respiratory pathogen Streptococcus pneumoniae disables neutrophils by exploiting molecular mimicry to degrade platelet-activating factor (PAF), a host-derived inflammatory phospholipid. Using mass spectrometry and murine upper airway infection models, we demonstrated that phosphorylcholine (ChoP) moieties that are shared by PAF and the bacterial cell wall allow S. Read More

    In Silico Prediction of the Effects of Mutations in the Human Mevalonate Kinase Gene: Towards a Predictive Framework for Mevalonate Kinase Deficiency.
    Ann Hum Genet 2015 Nov 29;79(6):451-9. Epub 2015 Sep 29.
    School of Biological Sciences, Queen's University Belfast, Medical Biology Centre, 97 Lisburn Road, Belfast, BT9 7BL, UK.
    Mevalonate kinase (MVK) catalyses the phosphorylation of mevalonate. Deficiency of MVK is associated with two rare periodic fever syndromes, mevalonic aciduria (MA), a severe form and hyper-immunoglobulin-D syndrome (HIDS), a milder form. An in silico approach was used to analyse the physicochemical and structural effects of 47 disease-associated variants of MVK. Read More

    A restrospective survey of patients's journey before the diagnosis of mevalonate kinase deficiency.
    Joint Bone Spine 2015 Jul 9;82(4):240-4. Epub 2015 Feb 9.
    Department of Pediatric Rheumatology, National referral centre for auto-inflammatory diseases (CEREMAI), CHU de Bicêtre, AP-HP, Le Kremlin-Bicêtre, France; University of Paris Sud, Le Kremlin-Bicêtre, France; Inserm U1018 CESP, Le Kremlin-Bicêtre, France.
    Unlabelled: Mevalonate kinase deficiency (MKD) is an autosomic recessive auto-inflammatory disease caused by mutations of the MVK gene. MKD being a very rare disease, numerous misdiagnoses and medical referrals may precede the right diagnosis, amplifying the burden of the disease.

    Objectives: To evaluate the patient's medical referrals between the first symptom and the diagnosis of MKD and the diagnosis delay. Read More

    Comment to Santos et al., "hyper-IgD and periodic fever syndrome: a new MVK mutation (p.R277G) associated with a severe phenotype".
    Gene 2015 Mar 22;559(1):99-101. Epub 2015 Jan 22.
    Institute for Maternal and Child Health - IRCCS "Burlo Garofolo", Via dell'Istria 65/1, 34137 Trieste, Italy. Electronic address:
    We performed molecular modeling analysis onto a novel mutation in the gene MVK, described by Santos et al., found to be causative of a severe form of Hyper-IgD/Mevalonate Kinase Deficiency. The mutation p. Read More

    Current advances in the understanding and treatment of mevalonate kinase deficiency.
    Int J Immunopathol Pharmacol 2014 Oct-Dec;27(4):491-8
    Institute of Pediatrics, Universita’ Cattolica Sacro Cuore, Rome, Italy.
    Mevalonate kinase deficiency (MKD) is a rare autosomal recessive autoinflammatory metabolic disease that is caused by mutations in the MVK gene. Patients with MKD typically have an early onset in infancy. MKD is characterized by recurrent episodes of high fever, abdominal distress, diffuse joint pain, and skin rashes. Read More

    Improving immunity to Haemophilus influenzae in children with chronic suppurative lung disease.
    Vaccine 2015 Jan 22;33(2):321-6. Epub 2014 Nov 22.
    Division of Child Health, Menzies School of Health Research, Charles Darwin University, NT, Australia; Department of Respiratory Medicine, Queensland Children's Medical Research Institute, Royal Children's Hospital, QLD, Australia.
    Background: Endobronchial infections related to non-typeable Haemophilus influenzae (NTHi) are common in children and adults with suppurative airway disease such as bronchiectasis and COPD. Impaired cell mediated immune responses to NTHi have been described in these patients. Currently there are no interventions known to correct the deficiency in cell mediated immune responses to NTHi. Read More

    Altered serum cytokine signature in common variable immunodeficiency.
    J Clin Immunol 2014 Nov 23;34(8):971-8. Epub 2014 Sep 23.
    Department of Pathology and Department of Microbiology, University of Alabama at Birmingham, Birmingham, AL, USA.
    Purpose: Common variable immunodeficiency (CVID) is the most frequent form of primary symptomatic hypogammaglobulinemia. CVID patients display a number of abnormalities in lymphocyte subpopulations including chronic T-cell activation and decreased numbers of circulating CD4(+) T cells and NK cells. We and others have recently shown that CVID is associated with increased concentration of soluble CD14 (sCD14) and other factors indicating limited microbial translocation. Read More

    The ataxia telangiectasia mutated and cyclin D3 proteins cooperate to help enforce TCRβ and IgH allelic exclusion.
    J Immunol 2014 Sep 15;193(6):2881-90. Epub 2014 Aug 15.
    Division of Cancer Pathobiology, Department of Pathology and Laboratory Medicine, Center for Childhood Cancer Research, Children's Hospital of Philadelphia, Philadelphia, PA 19104; Abramson Family Cancer Research Institute, Department of Pathology and Laboratory Medicine, Perelman School of Medicine, University of Pennsylvania, Philadelphia, PA 19104; and Immunology Graduate Group, Perelman School of Medicine, University of Pennsylvania, Philadelphia, PA 19104
    Coordination of V rearrangements between loci on homologous chromosomes is critical for Ig and TCR allelic exclusion. The Ataxia Telangietasia mutated (ATM) protein kinase promotes DNA repair and activates checkpoints to suppress aberrant Ig and TCR rearrangements. In response to RAG cleavage of Igκ loci, ATM inhibits RAG expression and suppresses further Vκ-to-Jκ rearrangements to enforce Igκ allelic exclusion. Read More

    Zfp318 regulates IgD expression by abrogating transcription termination within the Ighm/Ighd locus.
    J Immunol 2014 Sep 23;193(5):2546-53. Epub 2014 Jul 23.
    Division of Microbiology and Immunology, Department of Pathology, University of Utah School of Medicine, Salt Lake City, UT 84112
    The protein Zfp318 is expressed during the transition of naive B cells from an immature to mature state. To evaluate its role in mature B cell functions, a conditional gene deficiency in Zfp318 was created and deleted in bone marrow lineages via Vav-Cre. B cell development was minimally altered in the absence of the protein, although transitional 2 (T2) B cell populations were depressed in the absence of Zfp318. Read More

    The majority of human memory B cells recognizing RhD and tetanus resides in IgM+ B cells.
    J Immunol 2014 Aug 25;193(3):1071-9. Epub 2014 Jun 25.
    Department of Experimental Immunohematology, Sanquin Research and Landsteiner Laboratory, Academic Medical Center, University of Amsterdam, 1066 CX Amsterdam, the Netherlands; and
    B cell memory to T cell-dependent (TD) Ags are considered to largely reside in class-switched CD27(+) cells. However, we previously observed that anti-RhD (D) Igs cloned from two donors, hyperimmunized with D(+) erythrocytes, were predominantly of the IgM isotype. We therefore analyzed in this study the phenotype and frequency of D- and tetanus toxoid-specific B cells by culturing B cells in limiting dilution upon irradiated CD40L-expressing EL4. Read More

    A case of CD138-/CD19+/CD4+ IgD plasma cell leukemia.
    Cytometry B Clin Cytom 2015 Jan 9;88(1):69-73. Epub 2014 Apr 9.
    IJC, Hospital Germans Trias i Pujol, Hematology Laboratory and Pathology Service, Badalona, Spain.
    Background: Plasma cell leukemia (PCL) is an uncommon and aggressive disease caused by the clonal proliferation of atypical plasma cells with phenotypical abnormalities similar to those seen in multiple myeloma (MM), although at different rates. Here, we report a case of IgD PCL with a very unusual CD138-/CD19+/CD4+ phenotype.

    Methods: Peripheral blood and bone marrow samples from a 37-year-old patient afflicted by an aggressive plasma cell dyscrasia were examined and analyzed by conventional morphology, flow cytometry, and immunohistochemistry. Read More

    Hyper-IgD and periodic fever syndrome: a new MVK mutation (p.R277G) associated with a severe phenotype.
    Gene 2014 Jun 18;542(2):217-20. Epub 2014 Mar 18.
    Pediatric Rheumatology, Hospital Dona Estefânia, CHLC, EPE, Lisbon, Portugal. Electronic address:
    Hyperimmunoglobulinemia D and periodic fever syndrome (HIDS; MIM# 260920) is a rare recessively-inherited autoinflammatory condition caused by mutations in the MVK gene, which encodes for mevalonate kinase, an essential enzyme in the isoprenoid pathway. HIDS is clinically characterized by recurrent episodes of fever and inflammation. Here we report on the case of a 2 year-old Portuguese boy with recurrent episodes of fever, malaise, massive cervical lymphadenopathy and hepatosplenomegaly since the age of 12 months. Read More

    Intermittent neutropenia as an early feature of mild mevalonate kinase deficiency.
    J Clin Immunol 2014 Jan 1;34(1):123-6. Epub 2013 Nov 1.
    Pediatric Infectious Diseases Research Center, Children's Medical Center, Tehran University of Medical Sciences, 62 Gharib St, 14194, Tehran, Iran,
    A 15-month-old boy, born to Iranian consanguineous parents presented with intermittent neutropenia interspersed with episodes of fever and leukocytosis since early infancy. No ELA2 mutations were found and the bone marrow study was normal. At age 4 years he progressed to more typical attacks of periodic attacks of fever, abdominal pain, oral aphthous ulcers, cutaneous rash and leukocytosis. Read More

    Identification of sturgeon IgD bridges the evolutionary gap between elasmobranchs and teleosts.
    Dev Comp Immunol 2014 Feb 31;42(2):138-47. Epub 2013 Aug 31.
    State Key Laboratory of Agrobiotechnology, College of Biological Sciences, National Engineering Laboratory for Animal Breeding, China Agricultural University, Beijing 100193, PR China.
    IgD has been found in almost all jawed vertebrates, including cartilaginous and teleost fish. However, IgD is missing in acipenseriformes, a branch that is evolutionarily positioned between elasmobranchs and teleost fish. Here, by analyzing transcriptome data, we identified a transcriptionally active IgD-encoding gene in the Siberian sturgeon (Acipenser baerii). Read More

    B-cell subsets in patients with transient hypogammaglobulinemia of infancy, partial IgA deficiency, and selective IgM deficiency.
    J Investig Allergol Clin Immunol 2013 ;23(2):94-100
    Department of Pediatric Immunology-Allergy, Ankara University School of Medicine, Ankara, Turkey.
    Background: The pathogenesis of some primary humoral immunodeficiencies, such as transient hypogammaglobulinemia of infancy (THI) and immunoglobulin (Ig) A deficiency, remains unknown and can render diagnosis problematic.

    Objective: In the present study, we used flow cytometry to analyze peripheral blood B-cell subsets in patients with THI and unclassified hypogammaglobulinemia (UCH), partial IgA deficiency, and selective IgM deficiency.

    Methods: The study population comprised 41 patients with hypogammaglobulinemia (THI, 18; UCH, 23), 16 patients with partial IgA deficiency, and 16 patients with selective IgM deficiency who were admitted to Ankara University Department of Pediatric Immunology-Allergy between January 2010 and April 2011, as well as 29 healthy controls. Read More

    Defense genes missing from the flight division.
    Dev Comp Immunol 2013 Nov 24;41(3):377-88. Epub 2013 Apr 24.
    Department of Biological Sciences, University of Alberta, Edmonton, Canada.
    Birds have a smaller repertoire of immune genes than mammals. In our efforts to study antiviral responses to influenza in avian hosts, we have noted key genes that appear to be missing. As a result, we speculate that birds have impaired detection of viruses and intracellular pathogens. Read More

    Extensive thrombosis in a patient with familial Mediterranean fever, despite hyperimmunoglobulin D state in serum. [corrected].
    J Korean Med Sci 2013 Feb 29;28(2):328-30. Epub 2013 Jan 29.
    Department of Internal Medicine, Inha University Hospital, Incheon, Korea.
    Familial Mediterranean fever (FMF) is an autosomal recessive disease characterized by recurrent episodes of fever accompanied by peritonitis, pleuritis, arthritis, or erysipelas-like erythema. It is known to occur mainly among Mediterranean and Middle Eastern populations such as non-Ashkenazi Jews, Arabs, Turks, and Armenians. FMF is not familiar to clinicians beyond this area and diagnosing FMF can be challenging. Read More

    Long chain fatty acid (Lcfa) abnormalities in hyper Igd syndrome (Hids) and Familial Mediterranean Fever (Fmf): new insight into heritable periodic fevers.
    Mol Genet Metab 2013 Mar 15;108(3):166-71. Epub 2013 Jan 15.
    Department of General Internal Medicine, Radboud University of Nijmegen Medical Center, The Netherlands.
    Objective: To examine essential fatty acids (EFAs) in hyper-IgD syndrome (HIDS) and Familial Mediterranean Fever (FMF).

    Methods: EFAs were determined in sera derived from an archival, cross-sectional group of HIDS/FMF patients, stratified for presence and absence of fever. Control populations included healthy afebrile adults, and individuals with non-periodic fever (septic shock). Read More

    B cell survival, surface BCR and BAFFR expression, CD74 metabolism, and CD8- dendritic cells require the intramembrane endopeptidase SPPL2A.
    J Exp Med 2013 Jan 24;210(1):31-40. Epub 2012 Dec 24.
    Ramaciotti Immunization Genomics Laboratory, John Curtin School of Medical Research, The Australian National University, Canberra, Australian Capital Territory 2600, Australia.
    Druggable proteins required for B lymphocyte survival and immune responses are an emerging source of new treatments for autoimmunity and lymphoid malignancy. In this study, we show that mice with an inactivating mutation in the intramembrane protease signal peptide peptidase-like 2A (SPPL2A) unexpectedly exhibit profound humoral immunodeficiency and lack mature B cell subsets, mirroring deficiency of the cytokine B cell-activating factor (BAFF). Accumulation of Sppl2a-deficient B cells was rescued by overexpression of the BAFF-induced survival protein B cell lymphoma 2 (BCL2) but not BAFF and was distinguished by low surface BAFF receptor and IgM and IgD B cell receptors. Read More

    Mevalonate kinase genotype in children with recurrent fevers and high serum IgD level.
    Rheumatol Int 2013 Dec 13;33(12):3039-42. Epub 2012 Dec 13.
    Department of Pediatric Sciences, Università Cattolica Sacro Cuore, Largo A. Gemelli, 8, 00168, Rome, Italy,
    In selected cases, childhood's recurrent fevers of unknown origin can be referred to systemic autoinflammatory diseases as mevalonate kinase deficiency (MKD), caused by mutations in the mevalonate kinase gene (MVK), previously named "hyper-IgD syndrome" due to its characteristic increase in serum IgD level. There is no clear evidence for studying MVK genotype in these patients. From a cohort of 305 children evaluated for recurrent fevers in our outpatient clinic during the decade 2001-2011, we have retrospectively selected 10 unrelated Italian children displaying febrile episodes, associated with recurrent inflammatory signs (variably involving gastrointestinal tube, joints, lymph nodes, and skin) and persistently increased serum IgD levels. Read More

    Hyper-IgD syndrome or mevalonate kinase deficiency.
    Curr Opin Rheumatol 2011 Sep;23(5):419-23
    Department of General Internal Medicine, Radboud University Nijmegen Medical Centre, Nijmegen, The Netherlands.
    Purpose Of Review: The hyper-IgD and periodic fever syndrome (HIDS) is one of the classical monogenetic hereditary autoinflammatory disorders, and together with the more severe mevalonic aciduria it is also known as 'mevalonate kinase deficiency' (MKD). In this study, we will give an overview of the primary research on mevalonate kinase deficiency published in the past 2 years.

    Recent Findings: Besides an inventory of a number of recent case reports, literature review shows there are several interesting developments in the basic field of research. Read More

    A woman with recurrent "infections" since birth--a new mevalonate kinase mutation.
    Acta Clin Belg 2011 Mar-Apr;66(2):129-31
    Unité de Traitement des Immunodéficiences, Hôpital Erasme, Bruxelles, Belgique.
    A tired 32-year-old woman complaining of tiredness was referred for work-up of a possible immune deficiency. She had a history of recurrent infections since birth, which usually responded to antibiotics within a few days. Her mother, a nurse, had reported that early charts had disappeared. Read More

    Aberrant expression of costimulatory molecules in splenocytes of the mevalonate kinase-deficient mouse model of human hyper-IgD syndrome (HIDS).
    J Inherit Metab Dis 2012 Jan 24;35(1):159-68. Epub 2011 May 24.
    Department of Biological Sciences, DOW ESE Room 742, Michigan Technological University, 1400 Townsend Drive, Houghton, MI 49931, USA.
    Objective: We sought to determine the activation status and proliferative capacities of splenic lymphocyte populations from a mevalonate kinase-deficient mouse model of hyper-IgD syndrome (HIDS). We previously reported that murine mevalonate kinase gene ablation was embryonic lethal for homozygous mutants while heterozygotes (Mvk (+/-)) demonstrated several phenotypic features of human HIDS including increased serum levels of IgD, IgA, and TNFα, temperature dysregulation, hematological abnormalities, and splenomegaly.

    Methods And Results: Flow cytometric analysis of cell surface activation markers on T and B lymphocytes, and macrophage populations, demonstrated aberrant expression of B7 glycoproteins in all splenic cell types studied. Read More

    The absence of immunoglobulin D B cell receptor-mediated signals promotes the production of autoantibodies and exacerbates glomerulonephritis in murine lupus.
    Clin Exp Immunol 2011 May 24;164(2):227-35. Epub 2011 Feb 24.
    Department of Pathology and Immunology, Baylor College of Medicine, Houston, TX, USA.
    Immunoglobulin (Ig)D is the major antigen receptor isotype co-expressed with IgM on the surface of most peripheral B cells in mice and humans. However, the biological role of IgD as B cell receptor (BCR) has remained unclear. Previous studies have indicated that IgD may play a role in B cell tolerance. Read More

    Elevated immunoglobulin D levels in children with PFAPA syndrome.
    Neuro Endocrinol Lett 2010 ;31(6):743-6
    2nd Department of Pediatrics, Comenius University Medical School, Slovakia.
    Background: The periodic fever, aphthous stomatitis, pharyngitis and cervical adenitis (PFAPA) syndrome appears to be more common than generally appreciated and should be differentiated from hereditary periodic fever syndromes, particularly from mevalonate kinase deficiency (MKD).

    Patients And Methods: 14 unrelated patients (7 males, 7 females) met clinical criteria for both the PFAPA syndrome and MKD. Immunoglobulin D (IgD) levels, mevalonic aciduria and mevalonate kinase (MVK) genotype was determined in all patients. Read More

    Hyperimmunoglobulinemia D and periodic fever syndrome in children. Review on therapy with biological drugs and case report.
    Acta Paediatr 2011 Jan 26;100(1):21-5. Epub 2010 Aug 26.
    Pediatric Research Centre, Tampere University and University Hospital, Finland.
    Unlabelled: Hyperimmunoglobulinemia D syndrome (HIDS) is a rare, autosomal recessively inherited autoinflammatory disease caused by mutations in the mevalonate kinase gene. HIDS usually starts in infancy with recurrent fever episodes lasting 3-7 days and recurring every 4-6 weeks, with only partial symptom decrease in adulthood. Fever is typically accompanied by abdominal pain, vomiting, diarrhoea and cervical lymphadenopathy, and sometimes by skin and joint symptoms. Read More

    Stromal cell independent B cell development in vitro: generation and recovery of autoreactive clones.
    J Immunol Methods 2010 Mar 28;354(1-2):53-67. Epub 2010 Jan 28.
    Department of Immunology, DUMC 3010, Duke University Medical Center, Durham, NC 27710, USA.
    We describe and characterize a stromal cell independent culture system that efficiently supports pro-B cell to IgM+ B cell development with near normal levels of IgH and Igkappa diversity. Pro-B cells present in non-adherent bone marrow cells proliferate in the presence of IL-7 and subsequent to the removal of IL-7 and addition of BAFF, differentiate normally into IgM+ B cells. B cell development in vitro closely follows the patterns of development in vivo with culture-derived (CD) B cells demonstrating characteristic patterns of surface antigen expression and gene activation. Read More

    CD20 deficiency in humans results in impaired T cell-independent antibody responses.
    J Clin Invest 2010 Jan 21;120(1):214-22. Epub 2009 Dec 21.
    Emma Children's Hospital, Amsterdam, The Netherlands.
    CD20 was the first B cell differentiation antigen identified, and CD20-specific mAbs are commonly used for the treatment of B cell malignancies and autoantibody-mediated autoimmune diseases. Despite this the role of CD20 in human B cell physiology has remained elusive. We describe here a juvenile patient with CD20 deficiency due to a homozygous mutation in a splice junction of the CD20 gene (also known as MS4A1) that results in "cryptic" splicing and nonfunctional mRNA species. Read More

    [Utility of denaturing high performance liquid chromatography (DHPLC) for the diagnosis of mevalonate kinase deficiency in periodic disease].
    Reumatismo 2009 Jul-Sep;61(3):187-96
    Cattedra e UOC di Reumatologia, Dipartimento di Medicina Clinica e Sperimentale, Università degli Studi di Padova, Italia.
    Objectives: We developed a genetic investigation using denaturing high performance liquid chromatography (DHPLC), in order to identify polymorphisms of the gene MVK in patients with autoinflammatory syndrome suspicion.

    Methods: We evaluated 19 patients affected by recurrent fevers and other clinical manifestations usually found in autoinflammatory syndromes and not correlated with infections or autoimmune disease and 10 healthy controls. IgD level was measured in all patients. Read More

    Immunoglobulin D enhances immune surveillance by activating antimicrobial, proinflammatory and B cell-stimulating programs in basophils.
    Nat Immunol 2009 Aug 28;10(8):889-98. Epub 2009 Jun 28.
    Department of Pathology and Laboratory Medicine, Weill Cornell Medical College, New York, New York, USA.
    Immunoglobulin D (IgD) is an enigmatic antibody isotype that mature B cells express together with IgM through alternative RNA splicing. Here we report active T cell-dependent and T cell-independent IgM-to-IgD class switching in B cells of the human upper respiratory mucosa. This process required activation-induced cytidine deaminase (AID) and generated local and circulating IgD-producing plasmablasts reactive to respiratory bacteria. Read More

    Abnormal IgD and IgA1 O-glycosylation in hyperimmunoglobulinaemia D and periodic fever syndrome.
    Clin Exp Med 2009 Dec 20;9(4):291-6. Epub 2009 Jun 20.
    Department of General Medicine, Chase Farm Hospital, Enfield, UK.
    In order to determine the glycosylation pattern for IgD, and to examine whether there are changes in the pattern of IgD and IgA1 O-glycosylation in patients with hyperimmunoglobulinaemia D and periodic fever syndrome (HIDS) during acute febrile attacks and during periods of quiescence, serum was obtained from 20 patients with HIDS and 20 control subjects. In the HIDS group, serum was obtained either during an acute febrile episode (n = 9) or during a period of quiescence (n = 11). The O-glycosylation profiles of native and desialylated IgA1 and IgD were measured in an ELISA-type system using the lectins Helix aspersa and peanut agglutinin, which bind to alternative forms of O-glycan moieties. Read More

    Functional characteristics of small proteins (70 amino acid residues) forming protein-nucleic acid complexes.
    J Biomol Struct Dyn 2009 Jun;26(6):663-77
    Department of Bioinformatics and Telemedicine, Collegium Medicum--Jagiellonian University, Lazarza 16, Krakow 31-530, Poland.
    The proteins composed of short polypeptides (about 70 amino acid residues) participating in large complexes (ribosome) and proteins interacting with DNA/RNA were taken for analysis and classified according to the hydrophobicity excess/deficiency distribution as a measure of structural and functional specificity and similarity. The characterization of this group of proteins is the introductory part to the analysis of the so called "Never Born Proteins" (NBP) in search for protein compounds exhibiting biological activity that may be valuable in pharmacological research. The entropy scale (classification between random and deterministic limits) organized in ranking list allows the comparative analysis of the proteins under consideration. Read More

    Measurement of human serum IgD levels.
    Curr Protoc Immunol 2009 Apr;Chapter 2:Unit 2.9B
    Department of Medicine, Addenbrooke's Hospital, Cambridge, United Kingdom.
    This unit describes an ELISA for the quantitative measurement of IgD levels in human serum. The ELISA is highly specific and sensitive, with a minimum detectable concentration of 30 pg/ml and more than 10,000-fold specificity for IgD over all other human immunoglobulins. Linear dilution characteristics enable measurement of IgD concentrations ranging over 5 orders of magnitude. Read More

    Evidence of a functional B-cell immunodeficiency in adults who experience serogroup C meningococcal disease.
    Clin Vaccine Immunol 2009 May 11;16(5):692-8. Epub 2009 Mar 11.
    Unit of Infection and Immunity, University of Sheffield School of Medicine and Biomedical Science, Sheffield, United Kingdom.
    After adolescence, the incidence of meningococcal disease decreases with age as a result of the cumulative immunizing effect of repeated nasopharyngeal colonization. Nevertheless, some adults succumb to meningococcal disease, so we hypothesized that this is due to a subtle functional immunological defect. Peripheral blood lymphocytes derived from survivors of serogroup C meningococcal disease and from age- and sex-matched controls were incubated with a polyclonal B-cell activator containing anti-immunoglobulin D (alpha-delta-dex) employed to mimic antigen-specific stimuli encountered during immune responses to bacterial polysaccharides, with and without T-cell activation (using anti-CD3/anti-CD28). Read More

    Cutting edge: Helminth infection induces IgE in the absence of mu- or delta-chain expression.
    J Immunol 2008 Nov;181(10):6697-701
    Trudeau Institute, Saranac Lake, NY 12983, USA.
    Infections with helminth parasites are associated with an IgE isotype switch and high serum IgE concentrations. IgE is rapidly bound by the high affinity IgE receptor (Fc epsilonRI), thereby sensitizing Fc epsilonRI-bearing basophils and mast cells for IgE-inducible effector functions such as IL-4 production. The development of Ab-secreting B cells is dependent on IgM and consequently, muMT mice, which lack surface IgM, are considered devoid of Abs. Read More

    B cell cytopenia in two brothers with hyper-IgD and periodic fever syndrome.
    Eur J Pediatr 2009 Jul 7;168(7):825-31. Epub 2008 Oct 7.
    Department of Pediatrics, Division of Pediatric Immunology, University Medical Center Hamburg-Eppendorf, Hamburg, Germany.
    Unlabelled: We report on two brothers with hyperimmunoglobulinemia D (patient 1: serum immunoglobulin D [IgD] concentration initially 61 IU/ml, later on 340 IU/ml; patient 2: serum IgD concentration 144 IU/ml; normal <100 IU/ml, 97th centile) and periodic fever syndrome (HIDS). Both are compound heterozygous for the mevalonate kinase (MVK) mutations V377I and I268T. They developed significant B cell cytopenia (7%, 129/microl and 11%, 132/microl, respectively; normal ranges 12-22%, 300-500/microl) with hypogammaglobulinemia (IgG 5. Read More

    Identification of initiator B cells, a novel subset of activation-induced deaminase-dependent B-1-like cells that mediate initiation of contact sensitivity.
    J Immunol 2008 Aug;181(3):1717-27
    Department of Internal Medicine, Section of Allergy and Clinical Immunology, Yale University School of Medicine, New Haven, CT 06520, USA.
    Contact sensitivity (CS) is related to delayed-type hypersensitivity and is a well-characterized prototype of T cell-mediated inflammation. However, the inflammatory response associated with CS is additionally dependent on Ag-specific IgM produced by a subpopulation of B cells in response to sensitization. Upon re-exposure to hapten, this IgM mediates rapid vascular activation and subsequent recruitment of proinflammatory T cells to the local site. Read More

    Deletion of a single mevalonate kinase (Mvk) allele yields a murine model of hyper-IgD syndrome.
    J Inherit Metab Dis 2007 Nov 19;30(6):888-95. Epub 2007 Nov 19.
    Division of Medical Genetics, Children's Hospital of Pittsburgh, University of Pittsburgh School of Medicine, Rangos Research Building, Room 2113, 3460 Fifth Ave., Pittsburgh, PA 15213, USA.
    In the current study our objective was to develop a murine model of human hyper-IgD syndrome (HIDS) and severe mevalonic aciduria (MA), autoinflammatory disorders associated with mevalonate kinase deficiency (MKD). Deletion of one Mvk allele (Mvk (+/-)) yielded viable mice with significantly reduced liver Mvk enzyme activity; multiple matings failed to produce Mvk (-/-) mice. Cholesterol levels in tissues and blood, and isoprene end-products (ubiquinone, dolichol) in tissues were normal in Mvk (+/-) mice; conversely, mevalonate concentrations were increased in spleen, heart, and kidney yet normal in brain and liver. Read More

    Novel mutations in a Japanese patient with CD19 deficiency.
    Genes Immun 2007 Dec 20;8(8):663-70. Epub 2007 Sep 20.
    Department of Pediatrics, Graduate School of Medicine, University of Toyama, Toyama, Japan.
    Common variable immunodeficiency (CVID) is a heterogeneous disorder characterized by recurrent bacterial infections, hypogammaglobulinemia and low to normal numbers of circulating B cells. Mutations in the ICOS, TACI and CD19 genes have recently been identified in <10% of CVID patients. We, herein, describe two novel CD19 gene disruptions in an 8-year-old Japanese boy, who had been clinically diagnosed as having CVID at the age of 5 years. Read More

    Diagnostic value of serum immunoglobulinaemia D level in patients with a clinical suspicion of hyper IgD syndrome.
    Rheumatology (Oxford) 2007 Oct 5;46(10):1597-600. Epub 2007 Sep 5.
    Department of Internal Medicine, Tenon Hospital, Paris, France.
    Objective: The hyperimmunoglobulinaemia D and periodic fever syndrome (HIDS) was originally defined by the presence of a high serum level of immunoglobulin D associated with recurrent fever. Since the discovery of the mevalonate kinase gene (MVK) gene encoding the mevalonate kinase enzyme, most patients with a clinical diagnostic of HIDS are now found to have a mevalonate kinase deficiency based on metabolic and genetic data. We aimed to asses the value of a high IgD serum level for the diagnosis of HIDS in a cohort of patients with a phenotype of recurrent fever, and to characterize patients with a high IgD serum level without mevalonate kinase mutation. Read More

    Regulation of IgA production by naturally occurring TNF/iNOS-producing dendritic cells.
    Nature 2007 Aug;448(7156):929-33
    Department of Immunology, Akita University Graduate School of Medicine, Akita 010-8543, Japan.
    Immunoglobulin-A has an irreplaceable role in the mucosal defence against infectious microbes. In human and mouse, IgA-producing plasma cells comprise approximately 20% of total plasma cells of peripheral lymphoid tissues, whereas more than 80% of plasma cells produce IgA in mucosa-associated lymphoid tissues (MALT). One of the most biologically important and long-standing questions in immunology is why this 'biased' IgA synthesis takes place in the MALT but not other lymphoid organs. Read More

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