Immuno 14

Question 1

What is Aspenia?

Answer 1

Have elevated susceptibility to encapsulated bacterial pathogens (S. pneum and the flu).

Question 2

What is chronic granulomatous disease?

Answer 2

phagocytes cannot produce ROSs, resulting in impaired ability to kill bacteria.

Question 3

What is myeloperoxidase deficiency?

Answer 3

macrophages unable to efficiently kill phagocytosed microbes because they have low ability to produce hypochlorous acid and have defective oxidative burst.

Question 4

What is Chediak-Higashi syndrome?

Answer 4

impaired ability to form phagolysosome

Question 5

What are characteristics of neutropenias?

Answer 5

Low numbers of granulocytes, usually defined as neutrophil count less than 500 cells/uL

Question 6

What are the three common neutropenias?

Answer 6

Severe Congential Neutropenia
Cyclic Neutropenia
Benign Chronic Neutropenia

Question 7

What is XLA?

Answer 7

X-linked Agammaglobulinemia, characterized by absence of Igs in serum

Question 8

How can you treat Immunodeficiencies?

Answer 8

bone marrow transplantation, cord blood can be used as transplant source, beware of GVHD, gene therapy

Question 8

What are people with TLR deficiencies more susceptible to?

Answer 8

Gram-Negative bacterial infections

Question 9

What is NEMO?

Answer 9

A defect in which PRRs are intact, but transcription of the genes that should be expressed following recognition is deficient, like cytokines

Question 10

What is a typically treatment for innate recognition deficiencies?

Answer 10

Bi weekly injections of gamma globulin from healthy donor. Bone marrow transplant

Question 11

What protein deficit is the important factor of XLA?

Answer 11

A lack of Bruton’s Tyrosine Kinase, which is in B cells and neutrophils and is responsible for signal transduction from cell-surface receptors during B cell develop.

Question 12

What is AID deficiency?

Answer 12

Lacking the enzyme required for isotype switching, resulting in increased levels of Igm but low levels of other Abs.

Question 13

What deficiency can have the same end result as AID deficiency but through T cells?

Answer 13

A defect in CD40 ligand on T CElls. The CD40L cannot interact with CD40 on B cells. Therefore, the Th1 cells cannot deliver second activation signal to B cells.

Question 14

What does TAP deficiency cause?

Answer 14

Very low levels of MHC 1 and defective responses to intracellular pathogens due to CD8 T cell deficiency

Question 15

What is SCID?

Answer 15

It is the deficiency in working T Cells, both CD4 AND CD8

Question 16

What are Adenosine Deaminase and Purine Nucleotide Phosphorylase deficiency?

Answer 16

Two deficiencies that lead to SCID phenotypes

Question 17

What is bare lymphocyte syndrome?

Answer 17

The complete lack of MHC II mculs, preventing positive selection of CD4 cells in the thymus

Question 18

What is common gamma chain deficiency?

Answer 18

The common gamma chain is responsible for signalling in various cytokine receptors, interacting with Jaks to signal. People without it cannot initiate signaling of any cytokine receptor, leading to SCID

Question 19

What is omen syndrome?

Answer 19

Paritally active RAG, resulting in lack of B cells and low concentration of autoreactive T cells.

Question 20

What is ZAP 70?

Answer 20

Have no CD8 cells but normal concentration of non-functioning CD4 T cells.

Question 21

What is IPEX?

Answer 21

Deficiency in FoxP3 in regulatory CD4 cells, with watery diarrhea, dermatitis, and type 1 diabetes.