Immunodeficiency

Question 1

Pre BCR-deficiency

Answer 1

IGLL1 ((ƛ5)
Lack of B cells and antibodies
Persistant bacterial infections

Question 2

X-linked agammaglobulinemia

Answer 2

BtK
Undetected serum antibody level, absent/reduced B cells in periphery. no tonsils, no germinal centers. no plasma cells. immunization response deficient. pyogenic extracellular encapsulated bacterial infections, chronic viral infections (hep B & hep C).

Question 3

Hyper-IgM deficiency

Answer 3

Gene that encodes AID enzyme in B cells or defect in CD40L in T cells or (CD40). AID: enzyme required for isotype switching. would not see isotype switching or affinity maturation or somatic hypermutation. impairment of full activatoin of macrophages by TH1 cells.

Question 4

Hyper-IgM deficiency

resulting pathogen suseptibility

Answer 4

pyogenic and fever inducing bacterial infections, particularly in sinuses, ears and lungs. CD40/CD40L due to lower macrophages.. suseptible to several bacterial and fungal infections

Question 5

Selective IgA deficiency gene

Answer 5

TAC1

Question 6

Selective IgA deficiency

Answer 6

Receptor for BAFF (B-cell activating factor in the TNF familiy) provide costimulatory signal for B cell activation & class switching. plays important role in class switching.

Question 7

Selective IgA deficiency

Answer 7

REspiratory and GI infections, poor response to T cell dependant immunogens, develop B-cell lymphoproliferative disorder & autoimmunity.

Question 8

Selective IgG2 deficiency Gene

Answer 8

Not known

Question 9

Selective IgG2 deficiency

Answer 9

Lack of IgG2; infection: encapsulated bacteria

Question 10

DiGeorge Syndrome (thymic hypoplasia) Gene

Answer 10

Deletion in chromosome 22, encoding TBX1 transcription factor

Question 11

DiGeorge Syndrome immune dysfunction?

Answer 11

Deficient T-cell mediated immunity T cell dependant Ab production & abnormal Ca+ homeostasis. no thymic epithelium. recurrent infections

Question 12

Zap-70 deficiency

Answer 12

zap70. T cells cannot signal through their antigen receptors. susceptible to all types of infections.

Question 13

MHC class 1 deficiency gene

Answer 13

tap 1 or tap 2

Question 14

MHC class 1 deficiency

Answer 14

low MHC class 1 expression, respiratory virus infections

Question 15

MHC class II deficiency gene:

Answer 15

CIITA, RFX5, RFXAP, RFXANK

Question 16

IFN-gamma receptor deficiency

Answer 16

defective expression of cytokine receptor

Question 17

IFN-gamma recptor deficiency

Answer 17

won’t make a TH1 response, less NK cell activation. less activation of macorphage from start, macrophage less able to serve as APC without B7 or MHC molecule being enhanced by IFN-gamma

Question 18

IFN gamma deficiency

Answer 18

intracellular pathogens, (bacteria, fungi, bacteria, protozoa), increase in cancer

Question 19

MHC II deficiency susept

Answer 19

infections by viruses, pneumocystits jirovecii, bacteria, and fungi

Question 20

MHC class II deficiency

Answer 20

impaired antigen presented by APC & delayed/incomplete maturation of CD4+ lymphocytes

Question 21

IL-12 receptor deficiency

Answer 21

defective expression of cytokine receptor

Question 22

IL-12 immune deficiency

Answer 22

won’t make a TH1 response, less NK cell activation, less activation of macrophage.

Question 23

IL-12 receptor deficiency

Answer 23

suseptible to intracellular pathogens, increase in cancer

Question 24

T cell dependent CMI deficiency

Answer 24

Defective expression of cytokine receptors

Question 25

T cell dependent CMI deficiencies

Answer 25

lack of effectie TH1 respones, IL-2 promoted CD8 CTL responses. IFN -gamma induced fully activated macrophage responses

Question 26

T cell dependent CMI deficiencies

Answer 26

suseptible to viruses, fungi, intracellular bacteiral protozoa and virally-induced malignacies

Question 27

Severe combined immunodeficiency

Answer 27

RAG1 or RAG2 gene defects, common gamma gene defect IL-7, IL7r, Alpha. deficiency of ADA, PNP

Question 28

Severe combined immunodeficiency

Answer 28

don’t have enzymes required for rearrangement of IgG and TCR variable genes so no T or B cells in the periphery, son’t signal through IL-7 (delays in B and T cell development/ marrow/thymus)

Question 29

severe combined immunodeficiency

Answer 29

accumulation of precursors that are toxic to developing B and T cells. purine metabolism

Question 30

severe combined immunodeficiency

Answer 30

profound lymphopenia, deficient humoral and cell-mediated immunity, no b or t cells in periphery

Question 31

Wiscott-aldrich syndrome

Answer 31

WASP

Question 32

Wiscott Aldrich syndrome

Answer 32

remodeling actin skeleton to regulate cell movement, signalling and division. regulates lympocyte and platelet development/function. critical for immune synapase formation.

Question 33

wiscott- aldrich syndrome

Answer 33

susptibility to pyogenic bacteiral, viral and opportunistic. thrombocytopenia, platelet problems.

Question 34

chronic granulomatous disease

Answer 34

defect in NADPH oxidase, respiratory burst affected. mirobicidal actviity of phagocytes comprimised. recurrent bacterial infections, chronic granuloma formation in LN, skin, liver, lungs.L

Question 35

leukocyte adhesion deficiency

Answer 35

CD18 (integrin protein)

Question 36

Leukocyte adhesion deficiency

Answer 36

phagocytes are not able to migrate to the site of infections, rare autosomal recessive disorder. recurrent bacterial and fungal infections. impaired wound healing. can be fatal

Question 37

Chediak-Higashi syndrome

Answer 37

CHS1 - regulates lysosomal trafficking. defect in fesicle fusion mechanism so phaocytosed substances are not delivered to lysosomes. leads to fusion of cytoplasmic granules and formation of abnormal lysosomes. autosomal recessive. recurrent pyogenic bacteiral infecitons. partial abinism.

Question 38

complement deficiency

Answer 38

C1Q, C1R, C1S, C2, C3, C4: defects in components of the classical pathway effects the processing. greater suseptibility to encapsulated bacteria. Neisseria spp.

Question 40

Complement regulatory protein deficiencies

Answer 40

CF1 (factor 1) CD55 (DAF), CD59, C1INH.

factor 1 - loss of regulation of both classical and alternative pathways, greater suseptibility to encapsulated bacteria and infection neisseria spp. DAF - autoimmune-like conditions. including paroxysmal nocturnal hemoglobinuria.