Immunology pathology Flashcards Preview

A - Board Reveiew Misc > Immunology pathology > Flashcards

Flashcards in Immunology pathology Deck (12)
1

X-linked agammaglobinemia

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)

2

DiGeorge syndrome

"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

3

IL-12 receptor deficiency

Decreased TH1 response autosomal recessive.

4

Autosomal dominant hyper IgE syndrome

Deficiency in Treg cells due to STAT3 mutation.

Cannot recruit neutrophils to infections.

5

Severe combined immunodeficincy (SCID)

Deffective IL-2R gamma chain.

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

6

Ataxia telangiectasia

Defects ATM gene
Cerebellar defects, spider angiomas and IgA deficiency

7

Wiskott Aldrich syndrome

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

8

Chronic granulomatous disease

Deficiency in NADPH oxidase

Makes pt more suceptible to catalse positive organsms.

9

Autgrapht

Self

10

Isograft

From twin

11

Allograft

Same species

12

Xenograft

From dfferent species.

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