Congenital Immune Deficiencies

Question 0

Selective IgA Deficiency

Answer 0

Unknown cause 
Most ppl asx
Can see increased sinopulm, GI infx, AI disease, and milk allergies 
Selectively low IgA 
False positive hCG

Question 1

X Linked Brutons Agammaglobulinemia

Answer 1

XLR
No B cell maturation (no mature B or plasma cells)
Recurrent bacterial infections >6mo
Low IG of all classes
Small lymphoid organs esp outer cortex of LN

Question 2

Common Variable Immune Deficiency

Answer 2

Defect in B cell maturation
Can be acquired, increased risk of AI disease and sinopulm infx
Normal # of B cells; low plasma cells and IGs

Question 3

DiGeorge/22q11 syndromes

Answer 3

3 and 4 pharyngeal pouches fail to form –> thymic aplasia
Tetany(hypoCa), recurrent fungal and viral infx
Absent T cells

Question 4

Hyper IgE/ Job’s syndrome

Answer 4

Th1 cells fail to make IFN gamma –> poor PMN response and increased IgE

FATED: coarse facies, cold staph abscesses, retained primary teeth, high IgE, derm problems = eczema

Question 5

Chronic Mucocutaneous Candidiasis

Answer 5

T cell dysfunction with low IFN gamma and IL 2
Recurrent candidal infections of all mucous membranes
Presents in infancy

Question 6

SCID

Answer 6

Defective IL2-r
Failure of B and T cells to mature
FTT, chronic diarrhea, thrush, viral bact and fungal infx
Absent thymic shadow (don’t confuse with 22q11)

Question 7

Ataxia Telangiectasia

Answer 7

Defective ATM DNA repair gene
CB degen, ocular spider angiomas, IgA deficiency
Recurrent sinopulm infx
Sensitive to X-rays (not UV light)

Question 8

Hyper IgM syndrome

Answer 8

Defective CD40L on T cells --> no B cell class switching 
Severe pyogenic infx 
Elevated IgM and depressed other classes

Question 9

Wiskott Aldrich Syndrome

Answer 9

X linked inability of B cells to reorganize actin
TIE: thrombocytopenia purpura, infections, eczema
Small platelets
High IgE and A, low IgM

Question 10

Leukocyte adhesion deficiency

Answer 10

CD18 integrity deficiency
Poor migration and phagocytosis 
Recurrent bacterial infx without pus
Delayed separation of umbilical cord 
Neutrophilia

Question 11

Chediak Higashi Syndrome

Answer 11

Micro tubule dysf(x) leads to poor lysosomal function

BALIN: bleeding, albinism partial, leukopenia, infx staph and strep, neuropathy peripheral

Giant granules in PMNs

Question 12

Chronic Granulomatous Disease

Answer 12

NADPH oxidase deficiency
Susceptible to cat + organisms
Dx with NOBA

Cat+: saureus, pseudo/burkhold, aspergillus, nocardia, Serratia, kleb, ecoli, candida