Immune Deficiency Flashcards
What is a primary immunodeficiency?
Congenital
Inherited genetic defect affecting immune function
Inherited deficiency in enzyme affecting immune response
What is a secondary immunodeficiency?
Acquired
Loss of previously functioning immunity
an be due to an infection, toxin, splenectomy, irradiation
What autoimmune disease are caused by neutrophil deficiencies?
Congenital neutropenia
Chediak-Higashi syndrome
Leukocyte adhesion deficiency
Chronic granulomatous disease
What are the autoimmune diseases caused by B-cell deficiencies?
Congenital X-linked agammagloulinemia Common variable immunodeficiency Selective IgA deficiency Hyper IgM syndrome Hyper IgE syndrome (job;s syndrome)
What are the autoimmune diseases caused by T-cell deficiencies?
DiGeorge sydrome
Severe combined immunodeficiency
Wiskott-Aldrich syndrom
Ataxia-Telangiectasia
Which is the most common primary immunodeficiency syndrome?
Selective IgA
How many cases of chronic granulomatous disease (CGD) are X linked?
2/3
1/3 or autosomal
What is the main deficiency in chronic granulomatous disease?
Cytochrome-B deficiency = no NADPH oxidase No oxidative burst Can't recycle NADP - no ROS Impaired killing by neutrophils Inflamm response - granulomas
What does chronic granulomatous disease cause clinically?
Life-threatening bacterial and fungal infections
“walling off” of microbes within granulomas
Children often die of septicemia by age 7 yrs
What is the treatment for chronic granulomatous disease?
Antibiotics and IFNy
How does the nitroblue test work?
The nitro blue chemical reacts with macrophages making NADPH and if they are it makes the cell walls a dark blue color
If there is not function you see a clear color indicitive of an NADPH or myeloperoxidase deficiency
What are the clinical features of chronic granulomatous disease?
Inflammation of the nares
Granuloma in the neck
Severe gingivitis
As esophageal stricture caused by granuloma
What is the main cause of Chediak-Higashi syndrome?
Defect in polymerization of microtubules in neutrophils
Defective neutrophil migration
Failure of phagocytosis
Failure of lysosomal function in neutrophils
What is the defective gene in Chediak-Higashi syndrome?
CHS1 on chromosome 1
What are the clinical manifestations of Chediak-Higashi syndrome?
Recurrent pyogenic infections
Partial albinis,
Peripheral neuropathy
Abnormal platelet formation = thrombocytopenia
What is the main cause of Leukocyte adhesion defect (LAD)?
Deficient chemotaxis defect in CD18 integrin gene expression = deficiency in LFA-1 leading to; No adhesion to ICAM Neutrophils unable to bind endothelium Inability of neutrophils to extravaste
What are the clinical manifestations of Leukocyte adhesion defect?
Recurrent soft tissue, peridontitis, skin, respiratory infections
Impaired wound healing (no pus, little infla)
Inc WBC
What signs would you see in a pt with Leukocyte adhesion defect?
Normal neutrophil aggrigation
Neutrophils form but fails to aggregate
What is the main cause of hyper IgE disease (Job’s disease)
Failure to produce IFNy by T helper cells Humoral immune response not inhibited Inc in Th2 cells (no neg feedback) High IgE High histamine, eosinophilia Recurrent staph infections Eczema
What are some characteristics of compliment defeciencies?
Rare, mostly autosomal recessive
What happens if there is a deficiency in early components C1, 2, and 3?
Pyogenic infections (oposonin deficiency)
What happens if there is a deficiency in late component C5?
Causes issues with the membrane attack complex
What happens if there is a deficiency late components C6, 7, 8 and 9?
Little adverse effects, slow lysis
Intracellular infection risk
What is the main cause of hereditary angioedema?
A deficiency in C1-inhibitor (C1-INH)
Unabated activation of C2 and C4
Generation of Kinins = inc vascular perm = edema
