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Common Variable Immunodeficiency Type 11

CVID11


Presentation

  • Delivers comprehensive coverage of seminal human immunology discoveries and the resulting impact on therapeutic strategies Presents potential novel targets and approaches for clinical applications in organ specific and systemic autoimmunity, transplant[books.google.ro]
  • They present before diagnosis of CVID in 18% and are the only presenting feature of CVID in 2.3% [ 3 , 4 ].[omicsonline.org]
  • A 6-year-old boy presented with a 6-month history of weight loss and malaise and a 1-month history of fever and polyarticular arthritis. Parvovirus DNA was detected in plasma at 10 300 copies/mL.[uncch.pure.elsevier.com]
  • These include Giardia lamblia (the most common), salmonella, shigella and campylobacter. [ 11 ] Some patients present with mycobacterial or fungal infection. Some present with Pneumocystis jirovecii .[patient.info]
  • A 6-year-old boy presented with a 6-month history of weight loss and malaise and a 1-month history of fever and polyarticular arthritis. Parvovirus DNA was detected in plasma at 10 300 copies/mL.[pediatrics.aappublications.org]
Massive Splenomegaly
  • Patients with massive splenomegaly and pancytopenia are not particularly susceptible to opportunistic infections and may face diagnostic exclusion.[jcp.bmj.com]
Recurrent Bacterial Infection
  • UniProtKB/Swiss-Prot : 76 Immunodeficiency, common variable, 11: A primary immunodeficiency characterized by antibody deficiency, hypogammaglobulinemia, recurrent bacterial infections and an inability to mount an antibody response to antigen.[malacards.org]
  • bacterial infections and an inability to mount an antibody response to antigen.[selfdecode.com]
  • Definition A primary immunodeficiency characterized by antibody deficiency, hypogammaglobulinemia, recurrent bacterial infections and an inability to mount an antibody response to antigen.[uniprot.org]
  • CVID is characterized by hypogammaglobulinemia and recurrent bacterial infections. About two third of CVID subjects have an autoimmune condition. The etiology of about 80% of CVID remains unknown.[jimmunol.org]
Inflammation
  • Disorders characterized by chronic inflammation of the lower respiratory tract. N Engl J Med 1984; 310:235-244. ‎[books.google.ro]
  • Diseases related with Growth delay and Inflammation of the large intestine In the following list you will find some of the most common rare diseases related to Growth delay and Inflammation of the large intestine that can help you solving undiagnosed[mendelian.co]
  • Inflammation of the large intestine MedGen UID: 662273 • Concept ID: C0578878 • Disease or Syndrome Inflammation, or an inflammatory state in the large intestine.[ncbi.nlm.nih.gov]
  • It can significantly decrease pro-inflammatory cytokines produced by T cells in addition to decreasing IgE levels in a mouse model for rhinitis (nasal passage inflammation) Immune Checkpoint Immunotherapy Cancer Immunotherapy Targeted Therapy IL21/IL-[sinobiological.com]
Physician
  • Readers will gain an understanding of the rationale and mechanisms underlying current and emerging pharmacologic approaches for interventional immunology, the gaps therein, and new ideas for better and safer therapeutic approaches, and physicians will[books.google.ro]
  • Close-ups A Patient's Perspective Am Fam Physician. 2009 Dec 1;80(11):1223. I was recently diagnosed with common variable immunodeficiency (CVID).[aafp.org]
  • *Medscape Business of Medicine Academy Survey, September 2015 Learn from Experienced Professionals Courses were developed especially for physicians by business health experts and experienced physicians.[medscape.org]
  • Coauthor(s) Rohit M Modak, MD, MBA Staff Physician, Department of Infectious Diseases, Virginia Hospital Center Disclosure: Nothing to disclose.[emedicine.medscape.com]
  • But these type patients, in the final analysis, are treated according to their clinical manifestations and the judgment of the physician administering the therapy.[aaaai.org]
Recurrent Respiratory Infections
  • Affiliated tissues include b cells and t cells, and related phenotypes are failure to thrive and recurrent respiratory infections[malacards.org]
  • ECR 2017 / C-1730 Chest HRCT findings in patients with humoral Primary Immunodeficiencies and recurrent respiratory infections: review of literature and personal experience This poster is published under an open license .[epos.myesr.org]
  • Recurrent respiratory infections MedGen UID: 812812 • Concept ID: C3806482 • Finding An increased susceptibility to respiratory infections as manifested by a history of recurrent respiratory infections.[ncbi.nlm.nih.gov]
  • respiratory infections Splenomegaly Failure to thrive Arthritis Pica Microcephaly Chronic diarrhea Hepatitis Enterocolitis Rare Symptoms - Less than 30% cases Ranula Bloody diarrhea Ptosis Autoimmune hemolytic anemia Abnormal intestine morphology Hemolytic[mendelian.co]
  • The usual presentation is with recurrent respiratory infections. There is a strong association between CVID and autoimmune disorders . However, for CVID to present initially and solely with Autoimmune Encephalitis (AIE) is extremely rare.[omicsonline.org]
Surgical Procedure
  • The development of surgical procedures decreased mortality and morbidity, which allowed the emergence of familial cases.[mendelian.co]
Failure to Thrive
  • Affiliated tissues include b cells and t cells, and related phenotypes are failure to thrive and recurrent respiratory infections[malacards.org]
  • Failure to thrive MedGen UID: 115900 • Concept ID: C0231246 • Finding Failure to thrive (FTT) refers to a child whose physical growth is substantially below the norm.[ncbi.nlm.nih.gov]
  • Persistent diarrhoea and malabsorption (causing failure to thrive in children) from gastrointestinal infections.[patient.info]
Eczema
  • Keeps you up-to-date with the latest hot-topic developments including new biologic agents used in the treatment of various diseases such as psoriasis, eczema and melanoma.[books.google.ro]
  • Celiac disease Omphalocele Wide nose Tics Autoimmune thrombocytopenia Delayed puberty Pain Abnormality of the dentition Diabetes mellitus Hypothyroidism Hepatosplenomegaly Weight loss Leukemia Interstitial pulmonary abnormality Abdominal pain Neutropenia Eczema[mendelian.co]
  • Allergic diseases 38 %of ptsin one of cohorts had some evidence of an allergic disease:food allergy, eczema, urticaria, rhinitis, asthma. 41. J Pediatr. 2009;154(6):888. 42. 83 % had asthma. 43. Ann Allergy Asthma Immunol. 2006;97(5):653 44. 45. 46.[slideshare.net]
Cafe-Au-Lait Spots
  • AND no evidence of Ataxia telangiectasia (cafe-au lait spots, ataxia, telangiectasia, raised Alpha fetoprotein (AFP)). ESID, European Society for Immunodeficiencies.[jcp.bmj.com]

Workup

  • The diagnostic workup is complex, and referral to immunology for specific diagnosis and treatment is strongly advised.[mdedge.com]
  • Other serological workup revealed negative titers of anti-smooth antibodies, anti-LKM, anti-endomesial, anti-tissue transglutaminase IgG and IgA, anti-cardiolipin IgM & IgG, rheumatoid factor, anti-nuclear antibodies, anti-myeloperoxidase, antiproteinase[omicsonline.org]
  • […] this hypothesis. 72 Diagnostic and therapeutic consideration Given the prevalence of T-cell abnormalities among patients with CVID, the recent redefinition of CVID by the ESID now emphasises on the use of T-cell immunophenotyping during the diagnostic workup[jcp.bmj.com]
  • (suggestive of granuloma annulare). [11] Procedures Biopsy - Should be considered to exclude infection or malignancy in enlarging lymph nodes Bronchoscopy or endoscopy - Can provide information regarding specific lesions or infectious processes See Workup[emedicine.medscape.com]
  • The laboratory workup for humoral immunodeficiency (including CVI) consists of measuring serum immunoglobulin levels, including subclasses of IgG.[annals.org]

Treatment

  • Keeps you up-to-date with the latest hot-topic developments including new biologic agents used in the treatment of various diseases such as psoriasis, eczema and melanoma.[books.google.ro]
  • The diagnostic workup is complex, and referral to immunology for specific diagnosis and treatment is strongly advised.[mdedge.com]
  • Levels of sCD14 were not elevated in treatment-naive CVID patients, but were significantly increased after patients initiated IVIg treatment ( p 0.01, Fig. 6A ).[immunohorizons.org]
  • Jordan looks and feels great, and we are so pleased with the progress of the Rituximab treatment, I would highly recommend it for anyone dealing with this blood disorder.[jacksonfivejourneywithevans.blogspot.com]
  • Treatment [ edit ] Treatment consists of immunoglobulin replacement therapy, which replenishes Ig subtypes that the person lack.[en.wikipedia.org]

Prognosis

  • PROGNOSIS Life span of children with CVID has been significantly lengthened since Ig replacement therapy became standard of care 114. Prognosis is good. 115.[slideshare.net]
  • Prognosis The prognosis depends on the presence of severe autoimmune disease, recurrent infections causing structural lung damage, and the development of a malignancy. A 20-year survival rate is 64% for male patients and 67% for female patients.[emedicine.medscape.com]
  • Notably, approximately 10% of people display CD4 T cell counts lower than 200 cells/mm 3 ; this particular phenotype of CVID has been named LOCID (Late Onset Combined Immunodeficiency), and has a poorer prognosis than classical CVID.[en.wikipedia.org]
  • Prognosis [ 2 ] This depends on the extent of lung damage as a consequence of infection, severity of autoimmune disease and the development of a malignancy. Numbers of switched memory B cells may also play an important role.[patient.info]
  • PMID: 23166431 Free PMC Article Prognosis Hartono S, Motosue MS, Khan S, Rodriguez V, Iyer VN, Divekar R, Joshi AY Ann Allergy Asthma Immunol 2017 May;118(5):614-620. Epub 2017 Feb 20 doi: 10.1016/j.anai.2017.01.004.[ncbi.nlm.nih.gov]

Etiology

  • The etiology of about 80% of CVID remains unknown. Genetic linkage studies in such families have found distinct homozygous mutations in the gene encoding LRBA.[jimmunol.org]
  • […] death. 1,17 Being alert for these elements of family history can help to avoid delays in diagnosis and treatment and eventual organ damage. 2 DIFFERENTIAL DIAGNOSIS When considering the differential diagnosis for the primary features of CVID, other etiologies[mdedge.com]
  • In this review, we have a special focus on the immunopathogenesis of CVID, recent advances in understanding the underlying etiology and genetics for patients.[advbiores.net]
  • Etiology Odnoletkova I, Kindle G, Quinti I, Grimbacher B, Knerr V, Gathmann B, Ehl S, Mahlaoui N, Van Wilder P, Bogaerts K, de Vries E; Plasma Protein Therapeutics Association (PPTA) Taskforce.[ncbi.nlm.nih.gov]
  • Etiology The primary cause of common variable immunodeficiency (CVID) remains unknown despite 40 years of research. Part of the problem is the heterogeneity of the disease. Genetic factors may be involved.[emedicine.medscape.com]

Epidemiology

  • Definition, epidemiology and pathogenesis of hPIDs Primary Immunodeficiencies (PIDs) are genetically determined conditions characterized by impaired development and/or functioning of the immune system.[posterng.netkey.at]
  • Gholamreza Azizi,Moslem Ahmadi,Hassan Abolhassani,Reza Yazdani,Hamed Mohammadi,Abbas Mirshafiey,Nima Rezaei,Asghar Aghamohammadi International Archives of Allergy and Immunology. 2016; 171(3-4): 180 7 Autoimmunity in common variable immunodeficiency: epidemiology[advbiores.net]
  • There is a possible association with use of antirheumatic or anti-epileptic drugs. [ 7 , 8 ] Epidemiology [ 2 ] It is found in one per 25,000-50,000 subjects, depending on the ethnicity of the population.[patient.info]
  • Autoimmunity in common variable immunodeficiency: Epidemiology, pathophysiology and management. Expert Rev Clin Immunol. 2017;13(2):101-115.[scielo.org.mx]
Sex distribution
Age distribution

Pathophysiology

  • They control many different cellular functions including proliferation, differentiation and cell survival/apoptosis but are also involved in several pathophysiological processes including viral infections and autoimmune diseases.[sinobiological.com]
  • Recent advances that allow the detection of multiple novel susceptibility loci for CVID have dramatically increased our understanding of the pathophysiology and pathogenesis of this disorder. 5 These advances are being used to refine the diagnostic parameters[mdedge.com]
  • Azizi,Moslem Ahmadi,Hassan Abolhassani,Reza Yazdani,Hamed Mohammadi,Abbas Mirshafiey,Nima Rezaei,Asghar Aghamohammadi International Archives of Allergy and Immunology. 2016; 171(3-4): 180 7 Autoimmunity in common variable immunodeficiency: epidemiology, pathophysiology[advbiores.net]
  • Pathophysiology In CVID there are, as implied in the name, many and varied immune-system abnormalities. To understand these, some understanding of immunology is helpful.[patient.info]

Prevention

  • Krankheitsprävention – Preventive healthcare consists of measures taken for disease prevention, as opposed to disease treatment.[wikivisually.com]
  • Clinical trials Explore Mayo Clinic studies testing new treatments, interventions and tests as a means to prevent, detect, treat or manage this disease.[mayoclinic.org]
  • Treatment for CVID involves lifelong immunoglobulin replacement, preventative antibiotics, and if indicated management of autoimmune and granulomatous disease.[asifrafimd.com]
  • Prednisone and other immune-suppressing medicines are used to prevent excessive organ damage caused by the donor's immune cells.[webmd.com]
  • Unfortunately, difficulties arise in making the diagnosis of CVID in adults treated with immunosuppressive drugs, steroids, or chemotherapy, preventing the timely use of Ig replacement therapies in these patients.[clinicaltrials.gov]

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