Presentation
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]
Presentation in early infancy.. .. .. Poor growth or failure to thrive.. .. .. Persistent oral thrush.. .. .. Opportunistic infection. Phagocytic Defects:. .. .. Presentation in infancy or childhood.. .. .. [hawaii.edu]
Gastrointestinal
- Recurrent Abdominal Pain
HAE : diagnosis should be suspected : • history of recurrent angioedema, esp. if hives are absent • with (1) positive family history (2) onset of symptoms in childhood/adolescence (3) recurrent abdominal pain attacks (4) occurrence of upper airway edema [slideshare.net]
Workup
Resources on Primary Immunodeficiency Diseases for Physicians and Patients Resource Website Comments European Society for Immunodeficiencies http://www.esid.org Includes diagnostic workup and criteria for 19 primary immunodeficiency diseases; registry [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]
Treatment
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]
Prophylactic treatments include attenuated androgens and C1 inhibitor. [primaryimmune.org]
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]
^ "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]
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]
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]
Clinical manifestations of complement deficiencies Epidemiology Complement deficiency accounts for approximately 2% of all primary immune deficiencies. [unboundmedicine.com]
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]
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]
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]
[…] 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]