Block 4 Final Flashcards
Describe the common findings in Wiskott Aldrich syndrome (labs)
Low IgM
High IgA & IgE
Normal IgG
Low T cell levels
Low IgM
High IgA & IgE
Normal IgG
Low T cell levels
labs indicate which condition?
Wiskott Aldrich syndrome
Describe the clinical signs of Wiskott-Aldridge syndrome
Thrombocytopenia
Eczema
Recurrent infections
Atopic dermatitis (Extensor side)
ThrombocytopenIa
Eczema
Recurrent infections
What’s the condition?
Wiskott-Aldridge syndrome
What causes Wiskott-Aldridge syndrome?
Mutation of the WASP protein (Xp11.23)
Mutation of the WASP protein (Xp11.23) causes which condition?
Wiskott-Aldridge syndrome
Describe the common findings in Isolated IgA deficiency
1) Very low serum & secretory IgA
2) High risk of respiratory tract allergies & autoimmune disease
3) Defective BAFF (Bcell activating cytokine)
1) Very low serum & secretory IgA
2) High risk of respiratory tract allergies & autoimmune disease
3) Defective BAFF (Bcell activating cytokine)
Are all common findings of which condition?
Isolated IgA deficiency
Describe the clinical features of Isolated IgA Deficiency
Recurrent sino-pulmonary infections & diarrhea
Recurrent sino-pulmonary infections & diarrhea & low IgA indicate which conditions
Isolated IgA Deficiency
What is a complication of Isolated IgA Deficiency
Type II severe anaphylaxis when given a blood transfusion
Describe the common findings of DiGeorge syndrome
1) Thymic hypo/anaplasia (no Tcell immunity)
2) Hypocalcemia (no parathyroid)
1) Thymic hypo/anaplasia (no Tcell immunity)
2) Hypocalcemia (no parathyroid)
are all common findings of which condition?
DiGeorge
What is the cause of DiGeorge?
Deleted TBX1 region on 22q11 (causes 3rd & 4th pharyngeal pouches to not develop)
Deleted TBX1 region on 22q11 (causes 3rd & 4th pharyngeal pouches to not develop)
DiGeorge
Describe the clinical features of DiGeorge
1) Recurrent infections
2) Tetany
3) Congenital heart defects
4) Flat nasal bridge
5) Widened epicanthal fold
6) Low set/back rotated ears
7) small philtrum & chin
1) Recurrent infections
2) Tetany
3) Congenital heart defects
4) Flat nasal bridge
5) Widened epicanthal fold
6) Low set/back rotated ears
7) small philtrum & chin
Are features of which condition?
DiGeorge
What are the causes of X-linked Agammaglobinulemia?
Mutated Burton tyrosine kinase (Btk) on Xq21.22 (no Bcell development)
Mutated Burton tyrosine kinase (Btk) on Xq21.22 (no Bcell development)
cause which condition?
causes of X-linked Agammaglobinulemia
Describe the common findings (labs) in X-linked Agammaglobinulemia
1) None/Low B cell #
2) Low Igs (all of them)
3) CD19 +/ IgM - Bcells
4) Normal Tcells
5) Underdeveloped germinal centers in LN
1) None/Low B cell #
2) Low Igs (all of them)
3) CD19 +/ IgM - Bcells
4) Normal Tcells
5) Underdeveloped germinal centers in LN
Are all common findings in which condition?
X-linked Agammaglobinulemia
Describe the clinical features of X-linked Agammaglobinulemia
1) Recurrent respiratory infections
- Acute/chronic pharyngitis
- Sinusitis
- Bronchitis
- Osteitis media
- Pneumonia
2) Giardia lamblia (if IgA is low)
3) Recurrent diarrhea & GERD
1) Recurrent respiratory infections
- Acute/chronic pharyngitis
- Sinusitis
- Bronchitis
- Osteitis media
- Pneumonia
2) Giardia lamblia (if IgA is low)
3) Recurrent diarrhea & GERD
Are features of which condition?
clinical features of X-linked Agammaglobinulemia
Describe the etiology of X-linked Agammaglobinulemia
More common in males & it doesn’t become apparent until 6 months
What are the pathogens that pose the most serious threat to persons with X-linked Agammaglobinulemia?
H. influenza
S. pneumoniae
S. aureus
Enteroviruses (Echo/polio/coxsackie)
H. influenza
S. pneumoniae
S. aureus
Enteroviruses (Echo/polio/coxsackie)
Pose the most risk to persons with which autoimmune disorder?
X-linked Agammaglobinulemia
What is a consideration when vaccinating children with X-linked Agammaglobinulemia?
you can’t give them live vaccines because they don’t have B-cells to fight it!!!!
Describe the clinical features of SCID
1) Oral thrush
2) Extensive diaper rash
3) Failure to thrive
4) Morbilliform rash & GVHD (shortly after birth)
5) Recurrent infections
6) Chronic watery diarrhea (viral)
1) Oral thrush
2) Extensive diaper rash
3) Failure to thrive
4) Morbilliform rash & GVHD (shortly after birth)
5) Recurrent infections
6) Chronic watery diarrhea (viral)
Are all features of which condition?
SCID
Which pathogens pose the most risk to a person with SCID?
1) Candida albicans
2) Pneumonitis jiroveci (sand paper lung)
3) Pseudomonas
4) CMV
5) Vericella
1) Candida albicans
2) Pneumonitis jiroveci (sand paper lung)
3) Pseudomonas
4) CMV
5) Vericella
Are pathogens that pose the most risk to a person with which autoimmune condition?
SCID
Describe the cause of X-linked SCID (subtype)
Mutation in a common y-chain that messes with interleukin production especially IL-7 (lymphoid progenitors) & IL15 (NK proliferation)
Mutation in a common y-chain that messes with interleukin production especially IL-7 (lymphoid progenitors) & IL15 (NK proliferation)
IS THE CAUSE OF which AUTOIMMUNE disease?
cause of X-linked SCID (subtype
Describe the common findings in X-linked SCID
1) Normal neutrophil #
2) Black thymic shadow on X-ray
3) Low Igs
4) Low Tcell #
1) Normal neutrophil #
2) Black thymic shadow on X-ray
3) Low Igs
4) Low Tcell #
Are all common findings of which condition?
X-linked SCID
Describe the etiology of X-linked SCID
More common in young boys
Describe the cause of AUTO-REC SCID
Deficient ADA enzyme (Adenosine deaminase) causing an accumulation of deoxy-ATP which is toxic to lymphocytes
&
Mutated RAG gene (blocks B & T cell development)
Deficient ADA enzyme (Adenosine deaminase) causing an accumulation of deoxy-ATP which is toxic to lymphocytes
&
Mutated RAG gene (blocks B & T cell development)
The cause of which condition?
AUTO-REC SCID
Describe the etiology of Sjogren syndrome
Older females (50-60yrs) typically with thyroid issues
Describe the clinical features of Sjogren syndrome
1) Keratoconjunctivitis sicca (dry/burning/itchy eyes & blurred vision)
2. Xerostomia (dry mouth)
- diff swallowing solids
- tongue fissures
- Parotid gland enlargement
3. Extra glandular disease
- Synovitis
- Diffuse pulmonary fibrosis
- Peripheral neuropathy
1) Keratoconjunctivitis sicca (dry/burning/itchy eyes & blurred vision)
2. Xerostomia (dry mouth)
- diff swallowing solids
- tongue fissures
- Parotid gland enlargement
3. Extra glandular disease
- Synovitis
- Diffuse pulmonary fibrosis
- Peripheral neuropathy
All features of which condition?
Sjogren syndrome
Describe the immuno-markers of Sjogren syndrome?
1) Anti-CCLP ab **
2) IgM vs IgG
3) RA factor
4) SS-A (Ro)
5) SS-B (La)
In sjogren syndrome presenting with SS-A (Ro) is indicative of what prognosis?
poor prognosis (systemic spread of disease shows extra glandular symptoms)
What is the first form of Sjogren syndrome?
1) Sicca syndrome (primary) associated with defective:
- HLA-B8
- HLA-DR3
- DRW52
- HLA-DQA1
- HLA-DQB1
An autoimmune disorder associated with defective:
- HLA-B8
- HLA-DR3
- DRW52
- HLA-DQA1
- HLA-DQB1
Sicca syndrome (primary)
What is the second form of Sjogren syndrome?
2) legit when Sjogrens is associated with any other autoimmune disorder the most common being Rheumatoid arthritis
Describe the etiology of Systemic sclerosis (scleroderma)
Females 50-60yrs old usually
Describe the common findings in Systemic sclerosis (scleroderma)
Widespread damage of small blood vessels & progressive fibrosis in the interstitial & perivascular tissues of the skin, Gi, kidneys, heart, muscles, & lungs
Widespread damage of small blood vessels & progressive fibrosis in the interstitial & perivascular tissues of the skin, Gi, kidneys, heart, muscles, & lungs
Indicates which condition?
Systemic sclerosis (scleroderma)
Describe the clinical features of Limited Systemic Sclerosis
“CREST”
Calcification
Raynaud’s
Esophageal dysmotility (rubber hose)
Sclerodactyly (claw hands)
Telangiectasia
Typically skin symptoms are limited to the forearms, face & fingers
“CREST”
Calcification
Raynaud’s
Esophageal dysmotility (rubber hose)
Sclerodactyly (claw hands)
Telangiectasia
Typically skin symptoms are limited to the forearms, face & fingers
Are features of which condition?
Limited Systemic Sclerosis
Describe the cause of Limited Systemic Scleroderma
The body makes anti-SCL-70 (Targets DNA topoisomerase)
The body makes anti-SCL-70 (Targets DNA topoisomerase)
the cause of which condition?
Limited Systemic Sclerosis
In a persons with systemic scleroderma anti-centromere production indicates which prognosis?
It indicates CREST (aka limited SS) a good prognosis
In a persons with systemic scleroderma anti-RNA pol III production indicates which prognosis?
It indicates diffuse SS which has a poorer prognosis
Describe the common findings in Diffuse scleroderma
Widespread diffuse atrophy of the skin that spreads to the viscera of organs
Widespread diffuse atrophy of the skin that spreads to the viscera of organs
Indicated which condition?
Diffuse scleroderma
Describe the histological findings typical of Diffuse Scleroderma?
1) edema
2) Perivascular infiltration
3) Thickened basal lamina
1) edema
2) Perivascular infiltration
3) Thickened basal lamina
Are common histological findings in which condition?
Diffuse Scleroderma
Describe the clinical features of Diffuse scleroderma
1) Diffuse sclerotic atrophy of the skin
2) autoamputation (fingers)
3) Progressive atrophy and fibrosis of Gi & Esophagus (Esophageal dysmotility & Barrets)
4) Fibrosis of intralobular kidney arteries
5) Pulmonary hypertension/vasospasms
6) Interstitial fibrosis
7) Pericarditis with effusion
8) Myocardial fibrosis
1) Diffuse sclerotic atrophy of the skin
2) autoamputation (fingers)
3) Progressive atrophy and fibrosis of Gi & Esophagus (Esophageal dysmotility & Barrets)
4) Fibrosis of intralobular kidney arteries
5) Pulmonary hypertension/vasospasms
6) Interstitial fibrosis
7) Pericarditis with effusion
8) Myocardial fibrosis
Are all features of which condition?
Diffuse scleroderma
Describe the etiology of Acute myeloid leukemia (AML)
Happens at all ages but peaks at 60yrs
Describe the causes of Acute myeloid leukemia (AML)
AML gene disruptions due to:
1) t(8;21) translocation(disrupts RUNX1)
2) INV(16) (disrupts CBFB)
3) t(15;17) translocation(acute promyelocytic leukemia)
4) Benzene (leather industry)
AML gene disruptions due to:
1) t(8;21) translocation(disrupts RUNX1)
2) INV(16) (disrupts CBFB)
3) t(15;17) translocation(acute promyelocytic leukemia)
4) Benzene (leather industry)
Are all contributing factors to developing which condition?
Acute myeloid leukemia (AML)
Describe the common findings of Acute myeloid leukemia
1) There (20%) myeloblasts in the bone marrow
2) Neoplastic cells have delicate chromatin & azurophilic granules
1) There (20%) myeloblasts in the bone marrow
2) Neoplastic cells have delicate chromatin & azurophilic granules
What’s the condition?
Acute myeloid leukemia
1) Auer rods
2) AML t(15;17) translocation
What’s the condition?
Acute Promyelocytic leukemia
Describe the features of Acute myeloid leukemia
1) Recurrent infections’
2) Anemia
3) Thrombocytopenia (increased PT & PTT)
4) Neutropenia
1) Recurrent infections’
2) Anemia
3) Thrombocytopenia (increased PT & PTT)
4) Neutropenia
Are all features of which condition?
Acute myeloid leukemia
1) Cell differentiation
2) Fibrosis (increased Fibrogenic cytokines) (Downs syndrome)
3) Pseudopod formation***
What’s the condition
AML Megakaryoblastic type
1) Myeloperoxidase +
2) CD33/34+
What’s the condition
Acute Myeloblastic leukemia
1) Non-specific esterase +
2) Blueberry rash
What’s the condition
Monoblastic
1) Auer rods
2) AML t (15;17)
What’s the condition?
Acute promyelocytic leukemia
Describe the etiology of Lymphocytic predominance non-classical Hodgkin Lymphoma
Rare, Usually in males under 35yrs
Describe the common findings of Lymphocytic predominance non-classical Hodgkin Lymphoma
A mix of lymphocytes & histocyte variants (aka Popcorn cells)
Describe the immuno-markers for Lymphocytic predominance non-classical Hodgkin Lymphoma
1) CD20+ & BCL-6 +
2) CD15 - & CD30 -
3) EBV -
1) CD20+ & BCL-6 +
2) CD15 - & CD30 -
3) EBV -
Indicate which condition?
Lymphocytic predominance non-classical Hodgkin Lymphoma
Describe the etiology of Lymphocyte depletion-type Hodgkin Lymphoma
The rarest, usually older men who are HIV + & from 3rd world countries
Describe the common findings of Lymphocyte depletion-type Hodgkin Lymphoma
1) Low lymphocyte #
2) High Reed-Sternberg cell #
3) High association with EBV
4) Poorest prognosis
1) Low lymphocyte #
2) High Reed-Sternberg cell #
3) High association with EBV
4) Poorest prognosis
Are indicating of which condition?
Lymphocyte depletion-type Hodgkin Lymphoma
Describe the immuno-markers of Lymphocyte depletion-type Hodgkin Lymphoma
1) CD15+ & CD30+
2) EBV +
1) CD15+ & CD30+
2) EBV +
Are indicative of which condition?
Lymphocyte depletion-type Hodgkin Lymphoma
Describe the etiology of Lymphocyte-rich Hodgkin Lymphoma
Older men
Describe the common findings of Lymphocyte-rich Hodgkin Lymphoma
1) Reed-Sternberg cells
2) Mononuclear variants (halo cells)
3) More reactive lymphocytes
1) Reed-Sternberg cells
2) Mononuclear variants (halo cells)
3) More reactive lymphocytes
Are common findings of which condition?
Lymphocyte-rich Hodgkin Lymphoma
Describe the immuno-markers of Lymphocyte-rich Hodgkin Lymphoma
1) CD15+ & CD30+
2) EBV -
1) CD15+ & CD30+
2) EBV -
Are indicative of which condition?
Lymphocyte-rich Hodgkin Lymphoma
Describe the etiology of Mixed cellular type Hodgkin Lymphoma
Usually males, it has to peaks of incidence
- Young adulthood
- Over 55yrs old
Describe the common findings of Mixed cellular type Hodgkin Lymphoma
A heterogenous mix of cells:
- T cells
- Eosinophils
- Benign macrophages
- Reed-Sternberg cells
- Lacunar cells
- Mononuclear lacunar cells
A heterogenous mix of cells:
- T cells
- Eosinophils
- Benign macrophages
- Reed-Sternberg cells
- Lacunar cells
- Mononuclear lacunar cells
Are common findings of which condition?
Mixed cellular type Hodgkin Lymphoma
Describe the immunomarkers of Mixed cellular type Hodgkin Lymphoma
1) CD15+ & CD30+
2) EBV+
3) Heterogenous mix of cells
1) CD15+ & CD30+
2) EBV+
3) Heterogenous mix of cells
Indicate which condition?
Mixed cellular type Hodgkin Lymphoma
Describe the clinical features of Mixed cellular type Hodgkin Lymphoma
1) Painless lymphadenopathy
2) Fever
3) Night sweats
4) Weight loss
1) Painless lymphadenopathy
2) Fever
3) Night sweats
4) Weight loss
In a condition with heterogenous mix of cells indicates….
Mixed cellular type Hodgkin Lymphoma
Describe the etiology of Nodular sclerotic type Hodgkin Lymphoma
Usually young women