Immune deficiencies Flashcards
BTK deficiency?
X-linked agammaglobulinemia
No maturation of B cells
Recurrent Bacterial infections AFTER 6 months (maternal IgG runs out)
IgA deficiency?
Increased sinopulmonary infections
MUST remove IgA from blood products to avoid anaphylaxis rejection.
Low IgA, normal IgG and IgM
What is CVID?
Common variable immunodeficiency.
Decreased B cell maturation
Can be acquired in 20s-30s
Normal # of B cells, decreased plasma cells
What mutation leads to DiGeorge? What does it cause?
22q11, failure of 3rd and 4th pharyngeal pouches
Symptoms/signs of DiGeorge?
No parathyroid glands –> low Ca –> tetany
No thymus –> no T cells –> Recurrent viral/fungal infections
Lots of heart/great vessel disorders
What is IL-12 receptor deficiency?
Exactly what it sounds like, leads to decreased Th1 response (needs IL-12)
Decreased IFN-g and increased mycobacterial infections.
What causes chronic mucocutaneous candidiasis?
T cell dysfunction
What is Job’s Syndrome?
Hyper-IgE syndrome.
Th1 cells do not make IFN-g
FATED: course Facies cold staph Abscesses retained primary Teeth high igE Derm problems
What causes SCID?
IL-2 receptor deficiency (MCC - X-linked)
ADA deficiency
What is ataxia-telangiectasia?
Deficient ATM gene (codes for DNA repair enzymes)
Have ataxia and telangiectasia and IgA deficiency
What is Hyper IgM syndrome?
CD40L deficiency –> cannot class switch
What is Wiskott-Aldrich Syndrome?
X-linked WAS gene mutation (T cells cannot reorganize cytoskeleton)
TIE:
Thrombocytopenic purpura
Infections
Eczema
What is LAD type 1?
Leukocyte Adhesion deficiency.
deficient CD18 (LFA integrin-1)
Delayed umbilical separation?
LAD type 1
What is Chediak-Higashi syndrome?
AR defect in lysosomal trafficking gene LYST.
Recurrent pyogenic infections
