Immuno Def. Deck

Question 1

X-linked hyper-IgM Symdrome

Answer 1

Function Def: Defect in T-cell dependent B cell and macrophage activation

Mech of Def. Mutation in CD40 ligand

Question 2

Common Variable Immunodeficiency

Answer 2

Function Def: Reduced or non production of selective isotypes , susceptibility to bacterial infection

Mech of Def. Mutations in receptors for B cell growth factors, costimulators

Question 3

Bare Lymphocyte Syndrome

Answer 3

Function Def:Lack of Class II MHC expression, impaired CD4 T cell activation, defective cell mediated immunity.

Mech of Def. Mutation in genes encoding transcription factor required for class II MHC gene expression

Question 4

Defect in T cell receptor complex expression or singaling

Answer 4

Function Def: Decreased T cells or abnormal ratio of CD4 and CD8, decreased cell mediated immunity

Mech of Def. Rare, due to mutations or deletions in genes encoding CD3 proteins

Question 5

Defects in Th1 diff.

Answer 5

Function Def: Decreased T cell mediated macrophage activation, susceptibility to infection

Mech of Def. Rare, due to mutations encoding the receptors for Il-12 or interferon-gamma

Question 6

Dect in Th 17 diff.

Answer 6

Function Def:Decreased T cell-mediated macrophage activation, susceptibility to infection

Mech of Def. Rare, due to mutation in genes encoding, STAT3, IL-17, IL-17R

Question 7

X-linked lymphoproliferative syndrome

Answer 7

Function Def:Uncontrolled EVB- induced B cell proliferation and CTL activation, defective NK cell and CTL function antibody responses

Mech of Def. Mutations in gene encoding SAP ( adaptor protein involved in lymphocyte signaling)

Question 8

Human immunodeficiency virus infection

Answer 8

Mech: depletion of CD4 helper cells

Question 9

Irradiation and chemotherapy treatments for cancer

Answer 9

Mech:Decreased bone marrow precursors for leukocytes

Question 10

Immunosuppression for graft rejection and inflammatory diseases

Answer 10

Mech: Depletion or functional impairment of lymphocytes

Question 11

Involvement of bone marrow by cancer( metastases, leukemias)

Answer 11

Mech: Reduced site of leukocyte development

Question 12

Protein-calorie malnutrition

Answer 12

Mech:Metabolic derangements inhibit lymphocyte maturation and function

Question 13

Removal of spleen

Answer 13

Mech: Decreased phagocytosis of microbes

Question 14

X-linked SCID

Answer 14

Func Def:Markedly decreased T cells or increased B cells, reduce serum Ig

Mech: Cytokine receptor common gamma chain gene mutations, defective T cell maturation due to lack of IL-7 signals

Question 15

Autosomal Recessive SCID

Answer 15

Func Def:Progressive decrease in T and B cells (mostly T)

Mech: ADA or PNP def lead to accumulation of toxic metabolites.

Or can be due to defect maturation of T and B cells due to mutation in RAG genes messing up VDJ recombination

Question 16

X linked agammaoliema

Answer 16

Func Def: Decrease in all serum Ig isotypes: reduced B cell numbers

Mech: Block in maturation beyond pre-b cells, because of mutation of BTK

Question 17

Ig heavy chain deficiencies

Answer 17

Func Def: Def. of IgG subclasses, associated with absent IgA or IgE

Mech:Chromosomal deletion involving the heavy chain (14q32)

Question 18

DiGeorge Sydrome

Answer 18

Func Def:Decreased T cells: normal B cells, normal or decreased Ig

Mech: Anomalous development of 3rd and 4th branchial pouches leading to thymic hypoplasia

Question 19

Wiskott Aldrich Syndrome

Answer 19

x-linked recessive disease

Mutation in the WAS gene( cellular cytoskeleton)

Platelets and leukocytes are small and fail to migrate

Question 20

Ataxia-telangiectasia

Answer 20

Gait abnormalities

Mutation in gene involved in DNA repair

Defective lymphocyte maturation