Immunodeficiencies Flashcards
Recurrent bacteria and enteroviral infections, normal CD19+ B cell count, low Ig of all classes
Agammaglobulinemia
How is Agammaglobulinemia inherited?
X-linked recessive
What is the defect in Agammaglobulinemia?
BTK (tyrosine kinsase gene) mutation leads to no B cell maturation
Airway and GI infections, Autoimmune and atopic disorders and anaphylaxis to blood transfusions
Selective IgA deficiency
What are the lab finidings in Selective IgA deficiency?
Low IgA with normal IgG and IgM
Low plasma cells and iummunoglobulins, onset in the 20’s-30’s, increased risk of autoimmune disease, bronchiectasis, lymphoma, sinus infections
Common variable immunodeficiency
What causes Common variable immunodeficiency?
Defects in B-cell differentiation
Tetany, recurrent viral and fungal infections, and tetralogy of Fallot or truncus arteriosus
Thymic aplasia, DiGeorge Syndrome
Low T-cells, low PTH, and low Ca+2 with an absent thymic shadow on CXR
Thymic aplasia, DiGeorge Syndrome
What is the cause of Thymic aplasia, DiGeorge Syndrome?
22q11 deletion, failure to develop the 3rd and 4th pharyngeal pouches
Disseminated mycobacterial and fungal infections with decreased IFN-gamma levels
IL-12 receptor deficiency (leads to low Th1 response)
Course faces with a broad nose, frontal bossing, cold abscesses, retained primary teeth, eczema and high IgE levels
AD hyper-IgE syndrome
What is the cause of AD hyper-IgE syndrome?
Deficiency of Th17 cells due to STAT3 mutation, leads to a no IFN-gamma production so no phagocytes get recruited to the site of infection
What are the lab findings in AD hyper-IgE syndrome?
High IgE with low IFN-gamma
Noninvasive candida albicans infections (skin and mucous membranes)
Chronic mucocutaneous candidiasis
