Primary Immune Deficiencies Flashcards
(27 cards)
BTK gene mutation
Agammaglobulinemia (Bruton’s)
CD40 not present
Hyper IgM Syndrome
Main difference between Agammaglobulinemia and CVI:
AGG = low B cells CVI = normal B cells
Low B cells, Low antibodies, Normal T cells
AGG
Normal B cells, Low antibodies
CVI
High IgM, low others; mostly X-linked
Hyper IgM Syndrome
Low IgA, everything else normal
Isolated IgA Deficiency
What is the problem with Low IgA?
Poor respiratory function, GI, and GU
AGG, CVI, Isolated IgA, Hyper IgM = ?
B cell problem
X-linked, mostly seen in men
AGG
Failure to thrive, fungal infections, and viral infections
DiGeorge
Low T cells, specifically
DiGeorge
CATCH 22
H stands for?
H= hypocalcemia
Low T, B, and NK cell
SCID
Low receptors for IL-2,7, and 15
SCID
Infant doesn’t eat well, often lack tonsils, failure to thrive
SCID
DiGeorge and SCID = ?
T cell problem
LAD, chronic granulomatous disease, neutropenia = ?
Phagocytic Deficiencies
Persistent bacterial infections, like gingival and periodontal infections.
LAD (leukocyte adhesion deficiency)
Phagocytes can’t properly digest bacteria
chronic granulomatous disease (CGD)
Clinically presents with formation of granulomas.
chronic granulomatous disease (CGD)
Clinically presents with gingival ulcerations
Neutropenia
Recurrent sinopulmonary infections are seen in:
CVI, AGG, Isolated IgA Deficiency
Most common primary immunodeficiency:
IgA
