Immune deficiencies

Question 1

Bruton agammaglobulinemia

Answer 1

Inheritance: x linked
Cause: b cell deficiency, defective tyrosine kinase gene, low levels of all immunoglobulins
- recurrent bacterial infections after 6 months

Question 2

selective immunoglobulin deficiencies

Answer 2

IgA deficiency

• healthy, sinus and lung infections
• european with atopy and asthma
• anaphylaxis to blood products and transfusion

Question 3

thymic aplasia (DiGeorge)

Answer 3

Cause: 3rd and 4th fail to develop
- no thymus, no mature T cells
- no parathyroids, hypoCa
Assoc: congenital heart defects 
- recurrent viral, fungal, protozoal infections
90% have 22q11 deletion

Question 4

chronic mucocutaneous candidiasis

Answer 4

T cell dysfunction vs candida

- Tx: ketoconazole

Question 5

hyper IgM syndrome

Answer 5

Increased IgM, decreased Ig
Inheritance: x linked - no CD40 ligand
AR - no CD40

Question 6

IL12 receptor deficiency

Answer 6

mycobacterial infections

Question 7

SCID

Answer 7

Most common: adenosine deaminase deficiency
- last defense is NK cells
Sx: severe recurrent infections, candidiasis, RSV, VZV, HSV, measles, flu parainfluenze, PCP pneumo
- chronic diarrhea
- failure to thrive
- no thymic shadow on newborn CXR

Question 8

Wiskott Aldrich syndrome

Answer 8

Inheritance: x linked rec

‘WAITER’

Wiskott Aldrich
immunodeficiency
thrombocytopenia and purpura
eczema on trunk
recurrent pyogenic infections
- no IgM vs capsular polysaccharides
- low IgM, high IgA

Question 9

Ataxia telangiectasia

Answer 9

IgA deficiency

Sx: cerebellar ataxia, poor smooth pursuit, telangiectasias of face, avoid xrays, increased risk of lymph and leuk

Question 10

chronic granulomatous disease

Answer 10

No NADPH oxidase, impotent phagocytes
-susceptible to organisms with catalase (s aureus, e coli, klebsiella, aspergillus, candida
Dx: NBT test, no yellow to blue black ox
Tx: TMPSMX and IFNgamma

Question 11

chediak higashi syndrome

Answer 11

Defective LYST gene (lysosomal transport)
- defective phagocyte lysosome, giant cytoplasmic granules in PMNs
Sx: partial albinism, recurrent resp and skin infections, neuro disorders

Question 12

Hyper IgE syndrome (job)

Answer 12

deficienct IFNgamme - impaired neutrophil chemotaxis
- high levels of IgE and eosinophils
Sx: eczema, recurrent cold S aureus abscesses, coarse facial features (broad nose, frontal bossing, deep set eyes, doughy skin) —> two rows of teeth

Question 13

Leukocyte adhesion deficiency syndrome

Answer 13

Abnormal integrins –> phago can’t exit circulation

- delayed separation of umbilical cord