Primary Immunodeficiency Flashcards
DiGeorge
etiology
defect
22q11 = 3rd and 4th pouch defects
absent thymus
SCID
most important etiology
ADA (adenosine deaminase) deficiency
- breaks down adenosine and deoxyadenosine
- if absent, adenosine and deoxyadenosine are toxic to lymphocytes
SCID 3 etiologies
ADA deficiency (adenosine tox to lymphocytes) MHC-II deficiency cytokine receptor defects autosomal recessive
ADA deficiency
adenosine deaminase deficiency
adenosine and deoxyadenosine toxic to lymphocytes
death of lymphocytes (B-cells and T-cells)
SCID
MHC-II deficiency
SCID
humoral and T-cell loss
Cytokine receptor defects
SCID
SCID leads to loss of
cytotoxic and humoral immunity
Tx of SCID
stem cell transplant
X-linked agammaglobulinemia
defect
result
Burtons TK defect
defective B-cell maturation
no humoral immunity
X-linked agammaglobulinemia
presentation
recurrent infections 6 mo after birth
when mom’s IgG is gone
X-linked agammaglobulinemia
Common variable immunodeficiency
**recurrent infections of what
bacterial, enterovirus, and giardia
*giardia because IgA deficiency
Danger in X-linked agammaglobulinemia
don’t give live vaccines
bacterial, enterovirus, giardia
Common variable immunodeficiency
etiologies
low Ig due to B-cell or CD4 defects
IgA deficiency
complications
recurrent mucosal/viral infections
Hyper-IgM syndrome
defect
manifestations
CD40 or CD40L defect T-cells cannot help B-cells class switch recurrent pyogenic infections
Which cytokines are important for B-cell class switching
IL-4 and IL-5 from Th2 CD4+ T-cells
Wiskott-Aldrich syndrome
defect
manifestations
WASP TK defect (X-linked)
thrombocytopenia, eczema, recurrent infections
defect in humoral and cellular immunity
Which 1˚ immunodeficiencies are X-linked
X-linked agammaglobulinemia (ADA defect)
Wiskott-Aldrich syndrome (WASP TK defect)
C5-C9 deficiencies
complications
recurrent Neisseria infections
Hereditary angioedema due to
C1 inhibitor deficiency
C1 inhibitor deficiency
complications
cannot turn off complement
hereditary angioedema
esp periorbital edema
