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Original Article from The New England Journal of Medicine — Transplantation Outcomes for Severe Combined Immunodeficiency, 2000–2009 
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A major effort to understand a not so rare immunodeficiency
Alfredo Corell's insight:
Common variable immunodeficiency (CVID) is the most frequent of the large group of primary (inborn) immunodeficiencies. As the name indicates, the disease is highly variable. While the underlying defect is a lack of antibodies in the blood, patients develop a wide range of symptoms, from respiratory infections to autoimmune disorders and neoplasms, and treating such patients poses many challenges. Notably, the replacement of antibodies (known as immunoglobulin (Ig) replacement) alone does not seem to solve all symptoms; studies in the past have tried to group patients into different phenotypes, also to help identify suitable treatment, but our understanding of the disease remains limited.
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Find information on Common Variable Immune Deficiency (CVID), including definition, diagnosis, treatment, and expectations for patients.
Alfredo Corell's insight:
An atypically adult with CVID recently published on "The Lancet" The Lancet, Volume 383, Issue 9920, Page 926, 8 March 2014 doi:10.1016/S0140-6736(14)60415-3Cite or Link Using DOI Common variable immunodeficiency syndrome in an adult Dr Laura S Lourdes MD a , Karen C Daily DO b
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The PedPAD study: Boys predominate in the hypogammaglobulinemi
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Open Access UCL Research: Actin cytoskeletal defects in immunodeficiency. http://t.co/GUckDlnylL
Link to Immunological Reviews pdf: http://discovery.ucl.ac.uk/1417386/1/imr12114.pdf
The importance of the cytoskeleton in mounting a successful immune response is evident from the wide range of defects that occur in actin-related primary immunodeficiencies (PIDs). Studies of these PIDs have revealed a pivotal role for the actin cytoskeleton in almost all stages of immune system function, from hematopoiesis and immune cell development, through to recruitment, migration, intercellular and intracellular signaling, and activation of both innate and adaptive immune responses. The major focus of this review is the immune defects that result from mutations in the Wiskott-Aldrich syndrome gene (WAS), which have a broad impact on many different processes and give rise to clinically heterogeneous immunodeficiencies. We also discuss other related genetic defects and the possibility of identifying new genetic causes of cytoskeletal immunodeficiency.
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#Immunology: New Diagnostic Criteria for Common Variable Immunodeficiency (#CVID): IV or SubQ #Immunoglobulin? http://t.co/hQSMeiFj8y … #PI
Common variable immune deficiency (CVID) is the most frequent symptomatic primary immune deficiency in adults. The standard of care is intravenous immunoglobulin (IVIG) or subcutaneous immunoglobulin (scIG) therapy. The cause of CVID is currently unknown, and there is no universally accepted definition of CVID. This creates problems in determining which patients will benefit from IVIG/scIG treatment. In this paper, we review the difficulties with the commonly used European Society of Immune Deficiencies (ESID) and the Pan American Group for Immune Deficiency (PAGID) definition of CVID. We propose new criteria for the diagnosis of CVID, which are based on recent scientific discoveries. Improved diagnostic precision will assist with treatment decisions including IVIG/scIG replacement. We suggest that asymptomatic patients with mild hypogammaglobulinaemia are termed hypogammaglobulinaemia of uncertain significance (HGUS). These patients require long-term follow-up, as some will evolve into CVID.
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High-throughput TCR sequencing of rare immune disorders has demonstrated that quantitative TCR diversity can appear normal despite qualitative changes in repertoire and strongly suggests that in human subjects RAG enzymatic function might be necessary for normal CDR3 junctional diversity.
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Australian scientists have described an exquisitely balanced interplay of four molecules that trigger and govern antibody production in immune cells.
As well as being an important basic science discovery, it helps explain why people with mutations in any one of the associated genes cannot fight infection effectively, and develop rare and crippling immunodeficiency disorders.
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Rescooped by Alfredo Corell from Immunology Diagnosis |
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Programa de Garantía Externa de Calidad para Laboratorios de Inmunología Diagnóstica
Programa de los cursos y metodologia docente: http://www.geclidsei.uva.es/mod/resource/view.php?id=3165
Mínimo precio - Gran calidad
Comienzo inminente el 10 de junio de 2013
plazas disponibles
Instrucciones de inscripción: http://www.geclidsei.uva.es/mod/resource/view.php?id=2773
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Complement deficiencies comprise between 1 and 10% of all primary immunodeficiencies (PIDs) accord-ing to national and supranational registries. They are still considered rare and even of less clinicalimportance. This not only reflects (as in all PIDs) a great lack of awareness among clinicians and gen-eral practitioners but is also due to the fact that only few centers worldwide provide a comprehensivelaboratory complement analysis. To enable early identification, our aim is to present warning signs forcomplement deficiencies and recommendations for diagnostic approach. The genetic deficiency of anyearly component of the classical pathway (C1q, C1r/s, C2, C4) is often associated with autoimmune dis-eases whereas individuals, deficient of properdin or of the terminal pathway components (C5 to C9), arehighly susceptible to meningococcal disease. Deficiency of C1 Inhibitor (hereditary angioedema, HAE)results in episodic angioedema, which in a considerable number of patients with identical symptomsalso occurs in factor XII mutations. New clinical entities are now reported indicating disease associa-tion with partial complement defects or even certain polymorphisms (factor H, MBL, MASPs). Mutationsaffecting the regulators factor H, factor I, or CD46 and of C3 and factor B leading to severe dysregulationof the alternative pathway have been associated with renal disorders, such as atypical hemolytic uremicsyndrome (aHUS) and – less frequent – with membranoproliferative glomerulonephritis (MPGN). Wesuggest a multi-stage diagnostic protocol starting based on the recognition of so called warning signswhich should aid pediatricians and adult physicians in a timely identification followed by a step-wisecomplement analysis to characterize the defect at functional, protein and molecular level.© 2014 Published by Elsevier
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A small review about Immunodeficiencies. A "must" visit por Immunology students.
You can also download the printable pdf of the review: http://www.asthmacenter.com/uploads/ID%20printable.pdf
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Blood
Epstein Barr virus (EBV) is an oncogenic gammaherpesvirus that infects and persists in 95% of adults worldwide and has the potential to cause fatal disease, especially lymphoma, in immunocompromised hosts. Primary immunodeficiencies (PIDs) that predispose to EBV-associated malignancies have provided novel insights into the molecular mechanisms of immune defense against EBV. We have recently characterized a novel PID now named "X-linked immunodeficiency with magnesium defect, Epstein-Barr virus (EBV) infection, and neoplasia" (XMEN) disease characterized by loss-of-function mutations in the gene encoding magnesium transporter 1 (MAGT1), chronic high level EBV with increased EBV-infected B cells, and heightened susceptibility to EBV-associated lymphomas. The genetic etiology of XMEN disease has revealed an unexpected quantitative role for intracellular free magnesium in immune functions and led to novel diagnostic and therapeutic strategies. Here, we review the clinical presentation, genetic mutation spectrum, molecular mechanisms of pathogenesis, and diagnostic and therapeutic considerations for this previously unrecognized disease.
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Btk is the protein affected in XLA, a disease identified as a B cell differentiation defect. Btk is crucial for B cell differentiation and activation, but its role in other cells is not fully understood. This review focuses on the function of Btk in monocytes, neutrophils, and platelets and the receptors and signaling cascades in such cells with which Btk is associated.
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Chronic #Granulomatous Disease Associated with Common Variable #Immunodeficiency (#CVID) http://t.co/efWD57jCfr #PI #immunology
Chronic granulomatous disease associated with common variable immunodeficiency (GD-CVID), although well documented, is rare. Granulomatous lesions can affect several organs and are histologically indistinguishable from sarcoidosis.
Clinical casesCase 1: A 39-year-old male patient with CVID, asymptomatic although with thrombocytopenia and mediastinal-hilar adenopathies. GD-CVID was diagnosed by bone marrow biopsy. Progressive clinical and radiological improvement was obtained with corticotherapy.
Case 2: A 38-year-old male patient with CVID, suffered from asthenia, anorexia, myalgia, lower limbs edemas, and dry cough. He had mediastinal and bilateral hilar adenopathies within which biopsy revealed non-necrotizing granulomatous infiltrate. A spontaneous resolution was detected after 9 months of evolution.
ConclusionGD-CVID is rare and can mimetize other pathologies, namely, sarcoidosis; it should therefore be publicized and discussed so that it becomes a general clinical knowledge.
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TREC NBS in California has achieved early diagnosis of SCID and other conditions with T-cell lymphopenia, facilitating management and optimizing outcomes. Furthermore, NBS has revealed the incidence, causes, and follow-up of T-cell lymphopenia in a large diverse population.
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Tregitope applications may include any of the autoimmune diseases that are currently treated almost exclusively with intravenous immunoglobulin G (IVIG), such as Chronic Inflammatory Demyelinating Polyneuropathy (CIDP) and Multifocal Motor Neuropathy (MMN), as well as gene therapy and allergy where Tregitopes may provide a means of inducing antigen-specific tolerance.
Link to the journal: http://www.hindawi.com/journals/jir/2013/493138/
Download pdf: http://downloads.hindawi.com/journals/cdi/2013/493138.pdf
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Rescooped by Alfredo Corell from Immunology for University Students |
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Free USMLE step 1 & basic medical science videos, animated! By http://www.stepnrun.com, Dr A.Elawad continues with Immunology, presenting phagocytosis, intra...
Good video animation about phagocytosis and CGD
Sung-Yun Pai, M.D., Brent R. Logan, Ph.D., Linda M. Griffith, M.D., Ph.D., Rebecca H. Buckley, M.D., Roberta E. Parrott, B.S., Christopher C. Dvorak, M.D., Neena Kapoor, M.D., Imelda C. Hanson, M.D., Alexandra H. Filipovich, M.D., Soma Jyonouchi, M.D., Kathleen E. Sullivan, M.D., Ph.D., Trudy N. Small, M.D., Lauri Burroughs, M.D., Suzanne Skoda-Smith, M.D., Ann E. Haight, M.D., Audrey Grizzle, M.P.H., Michael A. Pulsipher, M.D., Ka Wah Chan, M.D., Ramsay L. Fuleihan, M.D., Elie Haddad, M.D., Ph.D., Brett Loechelt, M.D., Victor M. Aquino, M.D., Alfred Gillio, M.D., Jeffrey Davis, M.D., Alan Knutsen, M.D., Angela R. Smith, M.D., Theodore B. Moore, M.D., Marlis L. Schroeder, M.D., Frederick D. Goldman, M.D., James A. Connelly, M.D., Matthew H. Porteus, M.D., Ph.D., Qun Xiang, M.S., William T. Shearer, M.D., Ph.D., Thomas A. Fleisher, M.D., Donald B. Kohn, M.D., Jennifer M. Puck, M.D., Luigi D. Notarangelo, M.D., Morton J. Cowan, M.D., and Richard J. O'Reilly, M.D.
N Engl J Med 2014; 371:434-446July 31, 2014DOI: 10.1056/NEJMoa1401177
CONCLUSIONS
Transplants from donors other than matched siblings were associated with excellent survival among infants with SCID identified before the onset of infection. All available graft sources are expected to lead to excellent survival among asymptomatic infants. (Funded by the National Institute of Allergy and Infectious Diseases and others.)