Immunodeficiency Flashcards
B-cell disorder due to BTK gene mutation, no B-cell maturation
X-linked (Bruton) agammaglobulinemia
Most common primary immunodeficiency
Selective IgA deficiency
B-cell disorder with normal B cell count but ↓ plasma cells and immunoglobulins
Common variable immunodeficiency
22q11 microdeletion causing thymic and parathyroid aplasia
DiGeorge syndrome (Thymic aplasia)
Mutation causing ↓ Th1 response, ↑ susceptibility to mycobacteria
IL-12 receptor deficiency
STAT3 mutation with retained primary teeth and coarse facies
Autosomal dominant hyper-IgE syndrome (Job syndrome)
T-cell dysfunction against Candida species
Chronic mucocutaneous candidiasis
Severe immunodeficiency with failure to thrive and recurrent infections
Severe combined immunodeficiency (SCID)
Triad of cerebellar defects, spider angiomas, and IgA deficiency
Ataxia-telangiectasia
Defective CD40L on Th cells → class switching defect
Hyper-IgM syndrome
WATER mnemonic: thrombocytopenia, eczema, infections
Wiskott-Aldrich syndrome
Defect in LFA-1 integrin (CD18) → impaired chemotaxis and migration
Leukocyte adhesion deficiency (type 1)
Defect in LYST gene, giant granules in granulocytes, partial albinism
Chediak-Higashi syndrome
Defect in NADPH oxidase; ↑ susceptibility to catalase+ organisms
Chronic granulomatous disease
B-cell deficiency increases risk of these bacterial infections
Encapsulated bacteria (e.g., SHiNE SKiS)
T-cell deficiency increases risk of these infections
CMV, EBV, JC virus, fungi (Candida), PCP
Granulocyte deficiency increases risk of these bacteria
Staphylococcus, Burkholderia, Nocardia, Serratia
Complement deficiency increases risk of these bacteria
Encapsulated species, Neisseria
