Immunology pathology

Question 1

X-linked agammaglobinemia

Answer 1

Defect in BTK leading to no B cell maturation in boys.

X-linked recessive.

Look for recurrent bacterial infections after the age of 6 months (mothers immunoglobulin wears off)

Question 2

DiGeorge syndrome

Answer 2

“Thymic aplasia”
22q11 deletion failure to develop 3rd and 4th pharyngeal pouches thus absent thymus and parathyroids.

Leads to tetany, decreased T cells, decreased PTH, decreased calcium.

No thymic shadow on CXR

22q11 detected by FISH

Question 3

IL-12 receptor deficiency

Answer 3

Decreased TH1 response autosomal recessive.

Question 4

Autosomal dominant hyper IgE syndrome

Answer 4

Deficiency in Treg cells due to STAT3 mutation.

Cannot recruit neutrophils to infections.

Question 5

Severe combined immunodeficincy (SCID)

Answer 5

Deffective IL-2R gamma chain.

Failure to thrive, lack of T cells no thymic shadow.

Question 6

Ataxia telangiectasia

Answer 6

Defects ATM gene

Cerebellar defects, spider angiomas and IgA deficiency

Question 7

Wiskott Aldrich syndrome

Answer 7

Mutation in WAS gene T cells cannot reorganize actin cytoskeleton leading to thrombocytopenic purpura, eczema, and recurrent infections.

Question 8

Chronic granulomatous disease

Answer 8

Deficiency in NADPH oxidase

Makes pt more suceptible to catalse positive organsms.

Question 9

Autgrapht

Answer 9

Self

Question 10

Isograft

Answer 10

From twin

Question 11

Allograft

Answer 11

Same species

Question 12

Xenograft

Answer 12

From dfferent species.