Immuno Deficiencies

Question 1

Bruton’s agammaglobulinemia

Answer 1

X-linked recessive
Boys
BTK defect (tyrosine kinase)
B Cell decrease -> Ig decr
Bacterial Infxns after 6 months old (oponization defect)

Question 2

Hyper-IgM syndrome

Answer 2

CD40L defect on Th cells -> inability to class switch
IgM increase
IgG, IgA, IgE decrease
Pyogenic Infxns

Question 3

Selective Ig deficiency

Answer 3

Isotype switching defect -> deficiency in specific Ig
IgA deficiency is most common
Sinus, Lung Infxns, Diarrhea, Milk Allergy, Anaphylaxis with blood products

Question 4

Common variable immunodeficiency (CVID)

Answer 4

B-cell maturation defect acquired in 20-30s
Normal B cell levels
Plasma cell & Ig decrease
Autoimmune dz, lymphoma, sinopulmonary infxns

Question 5

Thymic Aplasia

DiGeorge Syndrome

Answer 5

22q11 deletion bc failure to develope 3rd and 4th pharyngeal pouches
CATCH22
Tetany, recurrent viral/fungal infxns
Congenital Heart defects
T Cell, PTH, Ca2+ decrease

Question 6

IL-12 receptor deficiency

Answer 6

Th1 response decreases
IFN-gamma decrease
Disseminated mycobacterial infxns

Question 7

Hyper IgE syndrome

Job’s syndrome

Answer 7

IFN-gamma deficiency -> neutrophil inability
FATED
coarse Facies
sold staph Abscesses
retained primary Teeth
IgE increase
Derm problems

Question 8

Chronic Mucotaneous Candidiasis

Answer 8

T-cell dysfunction

Candida albicans infections of skin and mucous membrane

Question 9

Severe Combined immunodeficiency (SCID)

Answer 9

X-linked
IL-2 receptor defect -> T-cell act decrease
Adenosine deaminase deficiency
Failure to syn MHC II antigens
Recurrent Viral, Bacterial, Fungal, Protozoal infxns

Question 10

Ataxia-telangiectasia

Answer 10

ATM gene defect

1. Cerebellar defects
2. Spider angiomas
3. IgA deficiency

Question 11

Wiskott-Aldrich syndrome

Answer 11

X-linked recessive
Progressive deletion of B and T cells
IgE, IgA increase
IgM decrease
TIE
Thrombocytopenia
Infxns
Eczema

Question 12

Leukocyte adhesion deficiency (type 1)

Answer 12

LFA-1 integrin (CD18) defect on phagoctyes
Neutrophilia
Recurrent bacterial infxns (no pus)
delayed separation of umbilical cord

Question 13

Chediak-Higashi syndrome

Answer 13

Autosomal recessive
Lysosomal Trafficking Regulator gene (LYST) defect -> microtubule dysfxn in phagosome-lysosome fusion
Recurrent Pyogenic infxns by Staph and Strep
Albinism
Periph neuropathy

Question 14

Chronic Granulomatous dz

Answer 14

Lack of NADPH oxidase -> reactive oxygen species decrease (superoxide decrease) and absent respiratory burst in neutrophils
Susceptibile to Catalase + organisms
PLACESS (Pseud, Listeria, Asperigillis, Candidia, E. coli, Staph aureus, Serratia)
Negative Nitroblue tetrazolium dye reduction test