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]

Late component defects (C5-9) may present with meningitis, whereas early component defects (C1q, r, s, C4, C2) may present with a lupus-like illness. [nationaljewish.org]

Patients of CVID usually present later in life that is after 5 years though some may present as early as 2 years of age. [indianpediatrics.net]

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

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]

Management and treatment Treatment of the associated disease should generally allow episodes to be controlled and lead to normalization of C1-INH levels. [orpha.net]

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

Treatment during attacks is to administer fresh frozen plasma or commercially available C1-INH. [brainkart.com]

Alternative treatment There is no alternative treatment for complement problems. Prognosis Since complement deficiencies include a wide range of disorders, the prognoses can also vary widely. Some patients remain healthy their entire life. [medical-dictionary.thefreedictionary.com]

Prognosis The prognosis depends on the risk of developing hematological manifestations. Rituximab can be an alternative treatment in cases of AAE associated with C1-INH antibodies. [orpha.net]

Prognosis Since complement deficiencies include a wide range of disorders, the prognoses can also vary widely. Some patients remain healthy their entire life. [medical-dictionary.thefreedictionary.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]

Prompt and accurate diagnosis of PID not only helps to direct the most appropriate treatment, and predict prognosis, but also it is important for further genetic counseling for the family. [indianpediatrics.net]

Etiology The edemas are triggered by increased permeability of the blood vessels in response to elevated levels of bradykinin as a result of the C1-INH deficiency. [orpha.net]

They may also have symptoms that suggest autoimmune disease and complement deficiency may be an etiologic factor in the development of autoimmune disease. Inherited deficiency of C1 is rare. [mayomedicallaboratories.com]

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

The diagnosis should be directed toward primary and secondary etiologies that are consistent with the clinical presentation and pattern of infections. [worldallergy.org]

Taking into consideration the high proportion of rIPD children with recognized anatomical etiology one may speculate whether some of the unexplained rIPD cases may in fact have an underlying unrecognized, eg, functional hyposplenism, which notoriously [journals.lww.com]

Relevant External Links for C1QC Genetic Association Database (GAD) C1QC Human Genome Epidemiology (HuGE) Navigator C1QC Atlas of Genetics and Cytogenetics in Oncology and Haematology: C1QC No data available for Genatlas for C1QC Gene Characterization [genecards.org]

Summary Epidemiology Prevalence is unknown. Clinical description Onset most commonly occurs after 50 years of age. [orpha.net]

[…] also include MBL testing, depending on clinical presentation Further testing based on disease presentation and initial testing – refer to Key Points and algorithm Monitoring Circulating immune complexes – may be useful for disease monitoring Background Epidemiology [arupconsult.com]

Epidemiology Complement deficiencies are rare. [patient.info]

[…] deficiency has a frequency of 0.01% in the USA, although it is unreported in Japan. 5 Complement deficiency was found in 6/176 Dutch patients (3%) over a 33 year period. 6 Thus the threshold for screening for complement abnormalities should reflect these epidemiological [adc.bmj.com]

Useful For Suggests clinical disorders or settings where the test may be helpful Diagnosis of first component of complement (C1) deficiency Investigation of a patient with an absent total complement (CH50) level Clinical Information Discusses physiology, pathophysiology [mayomedicallaboratories.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]

Pathophysiology The complement cascade consists of 3 separate pathways that converge in a final common pathway. [emedicine.medscape.com]

Clinical spectrum, pathophysiology and treatment of the Wiskott-Aldrich syndrome. Curr Opin Hematol. 2010. Nov 11. [Epub ahead of print] 16. Madkaikar M, Currimbhoy Z, Gupta M, Desai M, Rao M. Clinical profile of leukocyte adhesion deficiency. [indianpediatrics.net]

Complement is potentially very inflammatory once activated and there are a number of regulatory molecules which either prevent unregulated activation of complement, such as C1 inhibitor (C1INH), or which prevent damage to innocent bystander cells, such [brainkart.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]

Chapter 21 - The Immune System Immunity : Two Intrinsic Defense Systems Innate (nonspecific) system responds quickly and consists of: First line of defense - intact skin and mucosae prevent entry of microorganisms Second line of defense - antimicrobial [apchute.com]

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]

Prevention There is currently no way to prevent complement deficiencies. Resources Organizations Immune Deficiency Foundation. 25 W. Chesapeake Ave., Suite 206, Towson, MD 21204. (800) 296-4433. . [medical-dictionary.thefreedictionary.com]