Immuno Deficiencies Flashcards
Bruton x linked agammaglobulinemia
Defect
Clinical manif (3)
Btk gene ch xq21.22
Brutons tyrosine kinase
B cells stay as progenitor cells: no plasma cells; no germinal centers
After 5 months: when maternal IG is gone; Enterovirus, respiratory inf, giardia
SCID mutation x2
Labs
Clinical
Treatment
Xlinked cytokinecreceptor deficinecy ; Autosomal recessive ADA def
No Tcell; both CTL and THelper; low T cell, low antibodies
Oral trush; GVHD; HIV like
Hsc transplant
Di george mutation
Clinical PE
Lab
Pathology
Chromosome 22; TBX1 gene; branchial arch 3 and 4
No thymus, no PALS, no paracortical area
Low t cell count; normal to low Ig (depends on which t cell is gone)
Fungal and viral; cardiac abnormality abnormal facies thymic hypoplasia cleft lit hypocalcemia
Hyper IgM syndrome
Defect
Labs
Clinical
X linked cd40 defect
B cell cant class switch; tcells dont secrete il4-5
High igm low iga igg ige
Clinical: PYOGENIC infections (no IgG no opsonization)
CVID
Defect
Lab
Clinical
b and t cell defects??
Hypogammaglobulinemia all classes
Like brutons; diagnosis of exclusion
IgA deficiency
Defect
Clinical: respiratory infections
Most common primary immunodeficiency
Dec serum iga
(Mucosal infections) Respiratory infections, GIT and GUT infections
Cant give iga replacement;
Wiskott aldrich syndrome
Defect
Triad
Labs
X linked xp11 WASP protein
Thrombocytopenia Infections Eczema
Paradoxical: low IgM, normal IgG increased IgA and IgE
Ataxia telangiectasia
Mutation
Triad
Clinical
ATM gene ch11
Ataxia
Vascular malformations
Neurologic deficit
Thymic hypoplasia; Iga and igg deficiency respiratory tract infections
HIV
Genus
Family
Attach
Fusion
Possible cure??
Lenvtivirus
Retroviridae
Cd120
Cd41
CCR5
HIV
Illness 1
2
3
Neoplams
1
2
Cns
1
Candidiasis
Toxoplsma gondii cns mass lesion
Cmv retinitis <50
B cell lymphoma sec to EBV Kaposi sarcoma (KHSV HHV8)
1.SLE pathology
2.Specific test
Screening test
- Which corrlares with disease activity
- Which corrleates with congenital heart block
- Type of valve problem
Loss of self tolerance
Anti dsdna anti smith
ANA
Anti dsdna
Anti ro anti la
Libmansacks endocarditis
- Sjogren syndrome main pathology
- Triad
- Autoantibodies
- Diagnosis
- Autoimmune Destruction of lacrimal and salivaryglands
- Dry eyes dry mouth cavities
- Anti ro SS A anti La SS B (target ribonucleoprotien)| RF | ANA
- Lip biopsy
In sjogren syndrome
- Bilateral inflammation of the parotid glands + then unilateral growth of one of them may have?
- Early glands
Late glands - DIFFERENTIAL of ss
- Is usually associated with which other autoimmune disease?
B cell lymphoma
Lymphocytic infiltration
Fibrosis
Mikulicz syndrome: lacrimal and salivary inflammation due to any other cause
Rheumatoid arthritis
Scleroderma
Triad
Common clinical pres
Death is caused by?
Chronic inflammation
Small blood vessel damage
Progressive skin fibrosis and multiple organs
Raynauds phenomenon + skin thickening
Pulmomary hypetension cause of death
Oliguria scleroderma renal crisis
Diffuse scleroderma
Patho
Widspread skin involvement plus early visceral involvement
Anti DNA topoisomerase I antiscl70
Limited scleroderma
Patho
CREST syndrome
Calcinosis, raynauds phenomenon, esophageal dysmotility, sclerodactyly, telangiectasia
Anti centomere
Sclerodema renal crisis
Anti RNA polymerase III
Scleroderma
Skin morpho = loss of _____ , ____ thckening of dermal vessels
Joints look like _____ but without ____
Rete ridges, hyaline
RA, destruction
Mixed connective tissue disease clincal
Autoantibody
Mixed features of SLE, systemic sclerosis
U1 RNP
Gell and coombs hypersensitivity classification
- Myasthenia gravis
- Graves disease
- Insulin resistant diabetes
4 .pernicious anemia
Type II
- Antibody vs ach receptor
- Antibody vs TSH receptor
- Antibody vs Insulin receptor
- Antibody vs intrinsic factor
Gell and coombs classification
Autoimmune hemolytic anemia
Autoimmune thrombocytopenic purpura
Type II
- RH antigen = opsonization and phagocytosis of RBCs
- Gp IIb IIIa antigen = opsonization and phagocytosis of platelets
Acute rheumatic fever gell and coombs type
PSGN gell and coombs type
- Type II hypersensitivity
2. Type III hypersensitivity
Gell and coombs classification
- RA
- MS
- Type1 DM
- Contact derm
- IBD
- psoriasis
Type IV
- TH1, TH17 destruction of joints
- Myelin destruction via macrophages
- CD8 desturction of islets
- Cytokine mediated inflammation of skin
- Cytokine mediated inflammation of GI mucosa
- TH17 mediated inflammation of skin
Gell and coombs classification
- Autoimmune hemolytic anemia
- Autoimmune thrombocytopenic purpura
- Pernicious anemia
- MG
- Graves disease
- Goodpasture
- SLE
- Type 1 DM
- MS
- RA
1-6. Type II
7. Type III
8-10: Type IV
In SLE
- ANA is for?
- Anti SM, anti dsDNA for?
- anti Ro, Anti La for?
- Screening
- Disease activity
- Correlation with congenital heartblock
Fibrinoid necrosis is associated with which gell and coombs type?
- Type III
Hyperacute kidney rejection onset and mechanism
Onset: minutes to hours after
Mech: antibody mediated (preformed anti donor antibodies)
Type II, Type III
Acute cellular kidney rejection
Onset: months or years after cessation of immunosuppresion
Mechanism : cell mediated type I, Type II
What is the setup in GVHD?
- Patient undergoes chemo / radiotherapy to weaken own immune system
- Donor immune cells in graft attacked new host.
What disease?
+ congo red,
Apple green birefringence on polarized light
Amyloidosis
- excessive beta sheet proteins
- kidney (nephrotic syndrome)
- spllen
