Immunodeficiency Flashcards
Pre BCR-deficiency
IGLL1 ((ƛ5)
Lack of B cells and antibodies
Persistant bacterial infections
X-linked agammaglobulinemia
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).
Hyper-IgM deficiency
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.
Hyper-IgM deficiency
resulting pathogen suseptibility
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
Selective IgA deficiency gene
TAC1
Selective IgA deficiency
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.
Selective IgA deficiency
REspiratory and GI infections, poor response to T cell dependant immunogens, develop B-cell lymphoproliferative disorder & autoimmunity.
Selective IgG2 deficiency Gene
Not known
Selective IgG2 deficiency
Lack of IgG2; infection: encapsulated bacteria
DiGeorge Syndrome (thymic hypoplasia) Gene
Deletion in chromosome 22, encoding TBX1 transcription factor
DiGeorge Syndrome immune dysfunction?
Deficient T-cell mediated immunity T cell dependant Ab production & abnormal Ca+ homeostasis. no thymic epithelium. recurrent infections
Zap-70 deficiency
zap70. T cells cannot signal through their antigen receptors. susceptible to all types of infections.
MHC class 1 deficiency gene
tap 1 or tap 2
MHC class 1 deficiency
low MHC class 1 expression, respiratory virus infections
MHC class II deficiency gene:
CIITA, RFX5, RFXAP, RFXANK
IFN-gamma receptor deficiency
defective expression of cytokine receptor
IFN-gamma recptor deficiency
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
IFN gamma deficiency
intracellular pathogens, (bacteria, fungi, bacteria, protozoa), increase in cancer
MHC II deficiency susept
infections by viruses, pneumocystits jirovecii, bacteria, and fungi
MHC class II deficiency
impaired antigen presented by APC & delayed/incomplete maturation of CD4+ lymphocytes
IL-12 receptor deficiency
defective expression of cytokine receptor
IL-12 immune deficiency
won’t make a TH1 response, less NK cell activation, less activation of macrophage.
IL-12 receptor deficiency
suseptible to intracellular pathogens, increase in cancer
T cell dependent CMI deficiency
Defective expression of cytokine receptors
T cell dependent CMI deficiencies
lack of effectie TH1 respones, IL-2 promoted CD8 CTL responses. IFN -gamma induced fully activated macrophage responses
T cell dependent CMI deficiencies
suseptible to viruses, fungi, intracellular bacteiral protozoa and virally-induced malignacies
Severe combined immunodeficiency
RAG1 or RAG2 gene defects, common gamma gene defect IL-7, IL7r, Alpha. deficiency of ADA, PNP
Severe combined immunodeficiency
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)
severe combined immunodeficiency
accumulation of precursors that are toxic to developing B and T cells. purine metabolism
severe combined immunodeficiency
profound lymphopenia, deficient humoral and cell-mediated immunity, no b or t cells in periphery
Wiscott-aldrich syndrome
WASP
Wiscott Aldrich syndrome
remodeling actin skeleton to regulate cell movement, signalling and division. regulates lympocyte and platelet development/function. critical for immune synapase formation.
wiscott- aldrich syndrome
susptibility to pyogenic bacteiral, viral and opportunistic. thrombocytopenia, platelet problems.
chronic granulomatous disease
defect in NADPH oxidase, respiratory burst affected. mirobicidal actviity of phagocytes comprimised. recurrent bacterial infections, chronic granuloma formation in LN, skin, liver, lungs.L
leukocyte adhesion deficiency
CD18 (integrin protein)
Leukocyte adhesion deficiency
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
Chediak-Higashi syndrome
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.
complement deficiency
C1Q, C1R, C1S, C2, C3, C4: defects in components of the classical pathway effects the processing. greater suseptibility to encapsulated bacteria. Neisseria spp.
Complement regulatory protein deficiencies
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.
