Immuno Def. Deck Flashcards Preview

BPM 3 > Immuno Def. Deck > Flashcards

Flashcards in Immuno Def. Deck Deck (20):

X-linked hyper-IgM Symdrome

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

Mech of Def. Mutation in CD40 ligand


Common Variable Immunodeficiency

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


Bare Lymphocyte Syndrome

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


Defect in T cell receptor complex expression or singaling

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


Defects in Th1 diff.

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


Dect in Th 17 diff.

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


X-linked lymphoproliferative syndrome

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)


Human immunodeficiency virus infection

Mech: depletion of CD4 helper cells


Irradiation and chemotherapy treatments for cancer

Mech:Decreased bone marrow precursors for leukocytes


Immunosuppression for graft rejection and inflammatory diseases

Mech: Depletion or functional impairment of lymphocytes


Involvement of bone marrow by cancer( metastases, leukemias)

Mech: Reduced site of leukocyte development


Protein-calorie malnutrition

Mech:Metabolic derangements inhibit lymphocyte maturation and function


Removal of spleen

Mech: Decreased phagocytosis of microbes


X-linked SCID

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


Autosomal Recessive SCID

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


X linked agammaoliema

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


Ig heavy chain deficiencies

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

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


DiGeorge Sydrome

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


Wiskott Aldrich Syndrome

x-linked recessive disease

Mutation in the WAS gene( cellular cytoskeleton)

Platelets and leukocytes are small and fail to migrate



Gait abnormalities

Mutation in gene involved in DNA repair

Defective lymphocyte maturation