The book presents up-to-date reviews of the immunological basis of connective tissue diseases as it impacts on diagnosis, pathogenetic concepts, disease monitoring and management. [books.google.de]

Associated with frequent, recurrent disseminated infections Streptococcus pneumoniae Neisseria meningitidis Neisseria gonorrhea May present as autoimmune disease (eg, systemic lupus erythematosus [SLE], nephritis) Presentation is similar among various [arupconsult.com]

Pneumocystis jiroveci pneumonia is possible as initial presentation. [unboundmedicine.com]

Presentation in early infancy.. .. .. Poor growth or failure to thrive.. .. .. Persistent oral thrush.. .. .. Opportunistic infection. Phagocytic Defects:. .. .. Presentation in infancy or childhood.. .. .. [hawaii.edu]

[…] of patients with suspected primary immunodeficiency is presented in Figure 1. [aafp.org]

• Increased Susceptibility to Infections

  C5, C6, C7, C8, and C9 deficiencies are associated with increased susceptibility to infection with Neisseria organisms. Properdin deficiency is also associated with increased susceptibility to infection with Neisseria organisms. [clinicaladvisor.com]

  […] to cause disease in older individuals who have an increased lifelong susceptibility. [adc.bmj.com]

  Autoimmune disease can increase susceptibility to infections, especially in systemic lupus erythematosus ( 40, 24 ). [antimicrobe.org]

  […] in complement deficiencies. [ medical citation needed ] Among the possible complications are the following: Deficiencies of the terminal complement components increases susceptibility to infections by Neisseria. [10] Causes [ edit ] The cause of complement [en.wikipedia.org]

  This may lead to an increased susceptibility to infection and a balance must often be struck between controlling immune complex disease and increasing propensity to infection. [patient.info]

• Chronic Diarrhea

  These disorders are genetically determined and typically manifest during infancy and childhood as frequent, chronic, or opportunistic infections. [amboss.com]

  This disorder is characterized by severe opportunistic infections, or by chronic diarrhea and failure to thrive in infancy. Laboratory findings typically demonstrate severe lymphopenia. [aafp.org]

  Combined B and T cell deficiency, such as Severe Combined Immunodeficiency, is very rare and often presents in infancy with chronic diarrhea, failure to thrive, and severe, recurrent, opportunistic infections in the first few months of life. [antimicrobe.org]

• Convulsions

  Neurologic signs are common; approximately one-third of patients have convulsions or coma when first seen by a physician. Signs of meningeal irritation such as spinal rigidity, hamstring spasms and exaggerated reflexes are common. [textbookofbacteriology.net]

[…] recurrent abdominal pain attacks (4) occurrence of upper airway edema (5) failure to respond to antihistamines, glucocorticoid, or epinephrine; and (6) presence of prodromal signs or symptoms before swellings • Suspicion of HAE-1/2 should prompt laboratory workup [slideshare.net]

Anti-IgA antibodies in common variable immunodeficiency (CVID): diagnostic workup and therapeutic strategy. Clin Immunol. 2007;122(2):156-162. DOI: 10.1016/j.clim.2006.10.002 [ Links ] 76. Park MA, Li JT, Hagan JB, Maddox DE, Abraham RS. [scielo.org.mx]

The immunologic workup of the child suspected of immunodeficiency. Ann Allergy Asthma Immunol 2001;87(5):362-370. 4. Paul ME, Shearer WT. Chapter 33- Approach to the Evaluation of the Immunodeficient Patient. In: Rich RR, Fleisher TA (eds). [hawaii.edu]

• Cytopenia

  Manifestations are not limited to sinopulmonary infections, as chronic Giardia enteritis, gastrointestinal lymphoid hyperplasia, polymyositis, autoimmune cytopenias, and chronic arthritis also occur. [worldallergy.org]

  Vasculitic disorders, autoimmune cytopenias, and inflammatory arthropathies are a few examples of autoimmune conditions commonly associated with various types of immune deficiency ( 11, 33, 56 ). [antimicrobe.org]

no specific treatment or prophylaxis is indicated. [amboss.com]

Abdel-Magid AF. (2012) Factor D Inhibitors for the Treatment of AMD: Patent Highlight. ACS Med Chem Lett, 3 (10): 781-2. [PMID:24900375] 2. [guidetopharmacology.org]

Prophylactic treatments include attenuated androgens and C1 inhibitor. [primaryimmune.org]

Treatment and Prevention Antibiotics can be used to treat bacterial infections, like the ones that cause gonorrhea, syphilis, or chancroid. [medbroadcast.com]

In addition, treatment before the age of 3 months is also associated with better prognosis. [antimicrobe.org]

The prognosis in primary immunodeficiency disorders is variable and depends on the specific disorder. Congenital B-cell immunodeficiencies B-cell defects ( humoral immunity deficiencies ) account for 50–60% of all primary immunodeficiencies. [amboss.com]

Deficiencies of the components of the MAC (C5-C9) tend to lead to less severe infections and have a better prognosis with careful management. [patient.info]

A rapid response and antibiotic therapy may help improve the prognosis ( PubMed ) ." [pusware.com]

Complications and prognosis Meningococcal sepsis confers a mortality of up to 40%, and 11% to 19% of survivors suffer sequelae, including hearing loss, neurologic disability, and amputation because of peripheral gangrene.25 The case-fatality rate for [what-when-how.com]

[…] genetic cause cannot be identified in the majority of patients with clinical features of CVID, there are an increasing number of identificable conditions that can be linked to newly identified genetic disorders that have implications for the long term prognosis [worldallergy.org]

Selective IgA deficiency ( SIgAD ) Definition : the most common primary immunodeficiency with near or total absence of serum and secretory IgA Epidemiology : approx. 1/220 to 1/1000 Etiology : unknown Clinical features Often asymptomatic May manifest [amboss.com]

Inherited deficiencies are uncommon, while acquired deficiencies, due to a variety of etiologies, are much more common. [arupconsult.com]

^ "Membranoproliferative Glomerulonephritis: Background, Pathophysiology, Etiology". Medscape. Retrieved 21 September 2016. ^ Reference, Genetics Home. "C2 gene". Genetics Home Reference. Retrieved 21 September 2016. ^ Reference, Genetics Home. [en.wikipedia.org]

Features: Get the answers to any questions you have with more in-depth coverage of epidemiology, etiology, pathology, microbiology, immunology, and treatment of infectious agents than you’ll find in any other ID resource. [euro-libris.ro]

Appearance of a rash should prompt consideration of common viral etiologies, including the en-teroviruses. [what-when-how.com]

Objectives After completing this article, readers should be able to: Understand the epidemiology of Neisseria meningitidis infections. Understand which patients are at increased risk of invasive and recurrent meningococcal disease. [pedsinreview.aappublications.org]

Selective IgA deficiency ( SIgAD ) Definition : the most common primary immunodeficiency with near or total absence of serum and secretory IgA Epidemiology : approx. 1/220 to 1/1000 Etiology : unknown Clinical features Often asymptomatic May manifest [amboss.com]

Relevant External Links for CFD Genetic Association Database (GAD) CFD Human Genome Epidemiology (HuGE) Navigator CFD Atlas of Genetics and Cytogenetics in Oncology and Haematology: CFD No data available for Genatlas for CFD Gene Human adipsin is identical [genecards.org]

Epidemiology and pathogenesis of Neisseria meningitidis. Microbes Infect 2, 687 –700. [CrossRef] [Google Scholar] 122. Urwin, R., Holmes, E. C., Fox, A. J., Derrick, J. P. & Maiden, M. C. ( 2002 ;). [jmm.microbiologyresearch.org]

Epidemiology of Infectious Disease 12. Epidemiologic Principles 13. Emerging and Reemerging Infectious Disease Threat 14. Bioterrorism: An Overview Section D. Clinical Microbiology 15. The Clinician and the Microbiology Laboratory Section E. [euro-libris.ro]

[…] clinical disorders or settings where the test may be helpful Investigation of suspected alternative pathway complement deficiency, atypical hemolytic uremic syndrome, C3 glomerulonephritis, dense-deposit disease Clinical Information Discusses physiology, pathophysiology [mayomedicallaboratories.com]

Meningococcal vaccine Prophylactic antibiotics C3 deficiency Definition : deficiency of the complement factor C3 and its cleaved fragments (e.g., C3b) Etiology : primary or secondary due to impairment in the regulatory proteins factor I or factor H Pathophysiology [amboss.com]

Caccia S, Suffritti C and Cicardi M (2014) Pathophysiology of hereditary angioedema. Pediatric Allergy, Immunology, and Pulmonology 27: 159–163. Carroll MC (2004) The complement system in regulation of adaptive immunity. [els.net]

Factor H >100 FHR1 (FHR3) >100 (5% Caucasians) Factor 1 >50 Thrombomodulin (CD141) >10 CD46/MCP >50 CD55/DAF CR2 (CD21) Rare CR3 (CD18/CD11b) 1/million Genetics Autosomal recessive – most complement deficiency disorders X-linked – properdin deficiency Pathophysiology [arupconsult.com]

^ "Membranoproliferative Glomerulonephritis: Background, Pathophysiology, Etiology". Medscape. Retrieved 21 September 2016. ^ Reference, Genetics Home. "C2 gene". Genetics Home Reference. Retrieved 21 September 2016. ^ Reference, Genetics Home. [en.wikipedia.org]

In this article, we review the basic microbiology, epidemiology, clinical presentation, treatment, and prevention of meningococcal disease. Microbiology N meningitidis is an aerobic, nonmotile Gram-negative diplococcus bacterium. [pedsinreview.aappublications.org]

Get optimal test results with guidance on error detection, correction, and prevention as well as cost-effective test selection. [books.google.de]

May be transient (newborn) or permanent (HIV); more common than PID and tends to occur later in life General Prevention Early identification is key to prevent infection and possible comorbidity. [unboundmedicine.com]

This rare condition mutates or prevents C3 protein from forming, lowering the immune system's ability to protect. [16] C4 : C4 deficiency is highly associated with systemic lupus erythematosus. [2] Aβ42, a protein involved in Alzheimer's disease, can [en.wikipedia.org]

Two vaccines developed to prevent serogroup B vaccine are in late-stage clinical development in the United States. [cdc.gov]