Immunodeficiencies

Question 1

Ataxia-telangiectasia presents with ataxia, telangiectasias and _________

Answer 1

sinopulmonary infections

Question 2

What is Dx?

oculocutaneous albinism
pyogenic infections
progressive neurologic dysfunction

Answer 2

Chediak-Higashi Syndrome

Question 3

Severe bacterial and fungal infections with catylase + organisms
Granuloma formation
lack of staining with nitroblue tetrazolium

Answer 3

Chronic granulomatous disease

NADPH Oxidase deficiency

Question 4

Congenital heart disease
Dysmorphic facies (cleft palate)
HYPOcalcemia

Answer 4

DiGeorge Syndrome

22Q11 microdeletion with thymic agenesis

Question 5

Severe bacterial and viral infections in infancy
Chronic diarrhea
mucocutaneous candidiasis

Answer 5

Severe combined imunodeficiency
MCC = IL2R defect
2ndMCC = adenosine deaminase difficiency

Question 6

recurrent nisseria infection

Answer 6

terminal C5-C9 compliment defficiency

Question 7

recurrent infections that worsen with age
easy bleeding (thrombocytopenia)
eczema

Answer 7

Wiscott-Aldrich Syndrome

Question 8

decreased immunoglobulin of all types
normal thymic shadow on x-ray
recurrent infections after 6 months
small/absent lymph nodes and tonsils

Answer 8

Bruton’s X-linked agammaglobulinemia

Question 9

immunodificiencies that decrease IgG

Answer 9

Bruton’s X-linked agammaglobulinemia
Common variable imunodeficiency
Severe-combined immunodeficiency

Question 10

What immunodificiency is caused by defective gamma chain of IL2 receptor ?

Answer 10

Severe combined immunodeficiency (X-linked version)

Autosomal recessive version is adenosine deaminase difficiency

Question 11

What immunodificiency is caused by defective CD40L on T cells?

Answer 11

Hyper IgM (class switching defect), low IgG,E,A, High IgM

Question 12

What immunodificiency is associated with an increase in AFP?

Answer 12

ataxia telangiectasia

spider angiomas on face (telangiectasias ) cause increase risk for lymphoma and leukemia after 5 yrs age

Question 13

What is the pathophysiology for immunodeficiency caused by x-linked agammaglobulinemia?

Answer 13

BTK defect prevents maturation of B cells
lack of mature B cells means decrease in ALL Ig types
and no B cells in peripheral blood

Question 14

Pt receives BCG vaccine and develops disseminated mycobacterial infection; found to have decreased INF-y and decreased Th1 response. What is the Dx?

Answer 14

IL-12 receptor deficiency

Question 15

what immunodeficiency is associated with a deficiency in Th17+ cells (caused by STAT3 mutation) that leads to impaired neutrophil recruitment

Answer 15

Hyper IgE syndrome (aka Job syndrome)

Question 16

what is the cause of chronic mucocutaneous candidiasis?

Answer 16

T cel dysfunction

Lab findings: absent in vitro T-cell proliferation in response to Candida antigens and absent cutanrous reaction to candida antigens