Immunodeficiency Syndromes Flashcards
Severe combined immune deficiency
ADA deficiency
PNP deficiency
gammac chain deficiency
DNA repair defect
ADA deficiency
Deficiency in stem cell to proB/proT cell cell
No T or B cells
PNP deficiency
Deficiency in stem cell to proB/proT cell
No T or B cells
gammac chain deficiency
deficiency in proT cell to preT cell
No T cells
DNA repair defect
No T or B cells
DiGeorge syndrome
Thymic aplasia
Variable numbers of T and B cells
MHC class I deficiency
Mutant TAP1 or TAP2
No CD8 T cells
susceptible to viruses
MHC class II deficiency
Lack of MHC class II expression No CD4 T cells
Wiskott-Aldrich syndrome
X-linked; defective WASP gene
Defective polysaccharide antibody responses
susceptible to encapsulated extracellular bacteria
fewer and smaller platelets
Common variable immunodeficiency
MHC-linked abnormality
Defective antibody production
susceptible to extracellular bacteria
C3 deficiency
Lack of C3
recurrent infection with Gram-neg bacteria
Asplenia
absence of spleen
encapsulated extracellular bacteria
Paroxysmal nocturnal hemoglobinuria
mutations in genes involved in phosphatidylinositol glycan biosynthesis
lack of DAF, HARF, CD59
lysis of erythrocytes by complement
X-linked immunodeficiency (NEMO deficiency)
NEMO
impaired activation of NFkB
chronic bacterial and viral infections
Chronic granulomatous disease
(NOX1) NADPH oxidase
impaired neutrophil function
chronic bacterial and viral infections
MBL deficiency
Lack of mannose-binding lectin
susceptibility to meningitis due to Neisseria meningitidis
NK-cell deficiency
Absence of NK cells
susceptibility to herpesvirus infections
X-linked hyper IgM syndrome
CD40L or CD40 or NEMO
No isotype switching or somatic hypermutation in B cells
extracellular bacterial and fungal infections
SCID
RAG1 or RAG2
No gene rearrangements in B cells and T cells
Omenn syndrome
RAG1 or RAG2 or Artemis Impaired V(D)J recombination
Bare lymphocyte syndrome
TAP1 or TAP2 Low MHC class I expression susceptible to respiratory viral functions
X-linked agammaglobulinemmia
Bruton’s disease
BtK
B cells blocked at pro-B cell stage
recurrent bacterial infections
IPEX
FOXP3
lack of regulatory T cells and peripheral tolerane
autoimmune diseases
ZAP-70 deficiency
ZAP70
T cells that cannot signal through their receptors
IgG2 deficiency
Lack of IgG2
encapsulated bacteria
Selective IgA deficiency
Lack of IgA
No major susceptibility (respiratory infections?)
Factor I deficiency
Autosomal recessive
Absence of factor I and depletion of C3
recurrent infections of URT, ears, skin and UTI
glomerulonephritis with isolated C3 deposits
Deficiencies of C5, C6, C7, C8 or C9
Lack of complement-mediated lysis
infections due to Neisseria species
APECED
AIRE (autoimmune regulator)
Reduced T cell tolerance to self antigens
autoimmune diseases
Bloom’s syndrome
Defective DNA helicase
T cell numbers reduced
Reduced antibody levels
Respiratory infections
Ataxia telangiectasia
Gene with PI-3 kinase homology (ATM gene)
T cell numbers reduced
high AFPF, low IgA, IgG and IgE
ataxia, spider angiomas, IgA deficiency
X-linked lymphoproliferative syndrome
X-linked
EBV-triggered immunodeficiency
EBV virus susceptibility
Hereditary angioneurotic edema
Deficiency of C1INH, autosomal dominant
increase of bradykinin, decrease of C4 and C2
recurrent episodes of edema, abdominal, pelvic pain, suffocation
Factor D, properdin deficiency
no formation or stabilization of C3 convertase
susceptibility to capsulated bacteria and Neisseria but no immune-complex disease
IL-12 receptor deficiency
reduced Th1 response, autosomal recessive
may present after administration of BCG vaccines
low IFN-gamma
Autosomal dominant hyper-IgE syndrome
Job syndrome
deficiency of Th17 cells due to STAT3 mutation
impaired recruitment of neutrophils to siters of infection
high IgE and low IFN-gamma
Leukocyte adhesion deficiency
defect in LFA-1 integrin (CD18)
impaired migration and chemotaxis, autosomal recessive
increased neutrophils, absence of neutrophils at infection sites
Chediak Higashi syndrome
defect in lysosomal trafficking regulator gene
microtubule dysfunction in phagosome-lysosome fusion; autosomal recessive
recurrent pyogenic infections by staph and strep
