Edit concept Question Editor Create issue ticket

Immunodeficiency due to a C5 to C9 Complement Component Deficiency

Deficiency of of Terminal Pathway Complement


Presentation

  • He has edited more than 10 books, has presented more than 350 lectures/posters in congresses/meetings, and has published more than 500 articles in the international scientific journals during last decade.[books.google.com]
  • 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]
  • Bacterial meningitis is a rare presentation for acquired or congenital immunodeficiency; thus, most patients who present with bacterial meningitis do not have an identifiable deficiency of immune function.[academic.oup.com]
  • Clinical Presentation Patients who lack sufficient levels of functional antibody present clinically with recurrent bacterial sinopulmonary infections (sinusitis, otitis media, bronchitis, and pneumonia).[oncohemakey.com]
  • T-cell disorders usually present early in life. The most serious form of T-cell disorder, severe combined immunodeficiency (SCID), presents in infants as an emergent condition with life-threatening infections.[aafp.org]
Splenomegaly
  • […] infections, autoimmune disorders (eg, immune thrombocytopenia, autoimmune hemolytic anemia), malabsorption, giardiasis, granulomatous interstitial lung disease, nodular lymphoid hyperplasia of GI tract, bronchiectasis, lymphoid interstitial pneumonia, splenomegaly[merckmanuals.com]
Pathologist
  • An ideal resource for users pursuing medical lab careers that meets the immunology guidelines of the American Society of Clinical Pathologists. Key Words: immonology, serology, laboratory, immune system, autoimmunity, clinical pathology,[books.google.com]
  • Confidently prepare for the upcoming recertification exams for clinical pathologists set to begin in 2016.[books.google.com]
Disability
  • Particularly in its severe form, available provides important clues for both our atopic eczema is a distressing and even disabling disease. understanding of the disease and for daily patient care.[books.google.com]
Amyloidosis
  • Other signs of a specific genetic disorders in patients with CVID include intestinal amyloidosis (NLRP12 deficiency), CNS granulomas and enteropathy (CTLA4 deficiency).[worldallergy.org]
Perianal Ulcer
  • Delayed separation of the umbilical cord (more than four weeks after birth), or erosive perianal ulcers, can be early signs of leukocyte adhesion deficiency type 1. 3, 7, 8 Omphalitis can occur in severe congenital neutropenia and leukocyte adhesion deficiency[aafp.org]
Eczema
  • I believe that this Handbook of Atopic Eczema Since atopic eczema first emerged as a disease entity in will not only enhance our ability to treat our patients, but the early decades of this century, it has been the subject will also stimulate our efforts[books.google.com]
  • […] hyper IgE syndrome) only Educated get job so JOB hyper Ig"E" th cells fail to produce IFNgama so neutrophils dont respond to chemotactic stimuli "FATED" to get JOB F facies coarse A Abscess T Teeth retained primary teeth E hyper IgE D Dermatological Eczema[welovemedicine.blogspot.com]
  • Etiology : STAT3 mutation decreased Th17 cells defect in neutrophil / macrophage recruitment Clinical features FATED : F acies coarse A bscesses (recurrent bacterial infections) Retained primary T eeth Hyper- IgE ( E osinophilia) D ermatologic (severe eczema[amboss.com]
  • WAS has a classic presentation with eczema, microcytic thrombocytopenia and recurrent encapsulated infection in a young boy.[hawaii.edu]
  • Hyper-IgE syndrome is due to a mutation in STAT3 resulting in severe eczema, soft tissue infections, and staphylococcal pneumonia.[worldallergy.org]
Stroke
  • […] all the latest approaches in clinical laboratory medicine with new and updated coverage of: the chemical basis for analyte assays and common interferences; lipids and dyslipoproteinemia; markers in the blood for cardiac injury evaluation and related stroke[books.google.com]

Workup

  • Resources on Primary Immunodeficiency Diseases for Physicians and Patients Resource Website Comments European Society for Immunodeficiencies Includes diagnostic workup and criteria for 19 primary immunodeficiency diseases; registry Immune Deficiency Foundation[aafp.org]
  • […] 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]
  • 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]
Staphylococcus Aureus
  • aureus and Pseudomonas aeruginosa infections) C complement; MASP mannose-binding lectin-associated serine protease; MBL mannose-binding lectin.[merckmanuals.com]
  • - Intracellular killing and PMN Phagocytic Defects - Patterns of Infections Bacteria : Catalase positive Staph aereus BANS - Staphylococcus aureus - B urkholderia (Pseudomonas) cepacia - Aspergillus (Fungi) - N ocardia - S erratia Marcescens Complement[quizlet.com]
  • Systemic infections with catalase-positive organisms such as Staphylococcus aureus, Serratia, Aspergillus, Burkholderia cepacia and Nocardia are the hallmark of chronic granulomatous disease which is defective in oxidative burst capacity.[worldallergy.org]
  • Infections are related to the inability of the phagocytic system to kill catalase-positive organisms, including Staphylococcus aureus; Burkholderia cepacia ; and Nocardia, Aspergillus, Serratia, and Candida species.[aafp.org]

Treatment

  • Effectively monitor the pace of drug clearing in patients undergoing pharmacogenomic treatments with a new chapter on this groundbreaking new area.[books.google.com]
  • : no specific treatment or prophylaxis is indicated.[amboss.com]
  • What are the treatments of antibody deficiencies? 1. Give them immunoglobulins 2. Antibiotic prophylaxis Severe Combined Immunodeficiency (SCID) - Treatment Curative : 1. Hemapoietic stem cell transplanation 2.[quizlet.com]

Prognosis

  • 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]
  • […] 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]
  • Even though a number of patients have undergone successful bone marrow transplantation, the role of BMT remains somewhat controversial in this disease although in patients with ongoing CP infection, the prognosis for the patients who develop bile duct[oncohemakey.com]
  • The long term prognosis of HIM appears to be worse than in other forms of congenital hypogammaglobulinemia.[hawaii.edu]

Etiology

  • 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]
  • Etiology Primary complement deficiencies are hereditary.[unboundmedicine.com]
  • They may also have symptoms that suggest autoimmune disease, and complement deficiency may be an etiologic factor in the development of autoimmune disease.[pediatric.testcatalog.org]
  • Inherited deficiencies are uncommon, while acquired deficiencies, due to a variety of etiologies, are much more common.[arupconsult.com]

Epidemiology

  • Genatlas disease for C6 Gene infections,recurrent,neisserial Relevant External Links for C6 Genetic Association Database (GAD) C6 Human Genome Epidemiology (HuGE) Navigator C6 Atlas of Genetics and Cytogenetics in Oncology and Haematology: C6 Structure[genecards.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]
  • Complement deficiency states and infection: epidemiology, pathogenesis and consequences of neisserial and other infections in an immune deficiency. Medicine, 63(5), 243-273.[sinobiological.com]
  • Clinical manifestations of complement deficiencies Epidemiology Complement deficiency accounts for approximately 2% of all primary immune deficiencies.[unboundmedicine.com]
  • Ross , SC , Denson , P Complement deficiency status and infection: epidemiology, pathogenesis and consequences of neisserial and other infections in an immune deficiency . Medicine 1984 ; 63 : 243 –73. 11.[journals.cambridge.org]
Sex distribution
Age distribution

Pathophysiology

  • Pathophysiology Classic complement pathway is activated when IgM or IgG antibodies bind to antigen. Lectin pathway is activated when a lectin such as mannose-binding lectin (MBL) binds to antigen.[unboundmedicine.com]
  • Frank MM: Complement in the pathophysiology of human disease. N Engl J Med 1987;316:1525-1530 3. Yamamoto S, Kubotsu K, Kida M, et al: Automated homogeneous liposome-based assay system for total complement activity.[pediatric.testcatalog.org]
  • 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]
  • 100 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]

Prevention

  • Get optimal test results with guidance on error detection, correction, and prevention as well as cost-effective test selection.[books.google.com]
  • (PMID: 20406964) Rajaraman P … Inskip PD (Cancer epidemiology, biomarkers & prevention : a publication of the American Association for Cancer Research, cosponsored by the American Society of Preventive Oncology 2010) 3 45 60 Polymorphisms in innate immunity[genecards.org]
  • For example, serum from patients with genetically determined deficiencies of C1, C4, C2 and C3 fails to prevent the precipitation of immune complexes as they are forming, has a reduced ability to resolubilize complexes once they have formed, and does[sinobiological.com]
  • […] to the cell surface of the erythrocyte, this molecule CD55 inhibits the C3 convertase, which is necessary for complement activation. 02:49 Likewise, CD59 which also requires a GPI anchor to hold it on the surface of the erythrocyte, this functions to prevent[lecturio.com]

Ask Question

5000 Characters left Format the text using: # Heading, **bold**, _italic_. HTML code is not allowed.
By publishing this question you agree to the TOS and Privacy policy.
• Use a precise title for your question.
• Ask a specific question and provide age, sex, symptoms, type and duration of treatment.
• Respect your own and other people's privacy, never post full names or contact information.
• Inappropriate questions will be deleted.
• In urgent cases contact a physician, visit a hospital or call an emergency service!