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Flashcards in Exam 1 Diseases Deck (25):
1

A hispanic or black woman in her 20's comes in with butterfly rash, fever, pain but normal joints, pleuritic chest pain, photosensitivity, has had several miscarriages and tests positive for syphilis, what disease does she have?
What is the test for it? 3
What happens in this disease?
Why does she test positive for syphilis?
What HLA molecule is it linked to?

Systemic Lupus Erythematosus

IF Test for ANA, Anti-dsDNA, antiSM

Antibodies against DNA, histones, RNA proteins, and nucleolar antigens

Antiphospholipid antibodies create false positive for syphilis
HLA-DR1

2

A person comes in with skin manifestations like SLE, skin plaques of edema, erythema, scaliness, follicular plugging, skin atrophy, AND elevated erthematous border on face and scalp, what do they have?
What do you test?

Chronic Discoid Lupus
Test for ANA

3

A person comes in with a widespread but nonscarring skin rash and systemic symptoms similar to SLE, what do they have?
What do you test?
What HLA molecule is it linked to?

Subacute cutaneous lupus

anti-SS-A

HLADR3

4

Person on hydralizine, procainamide, isoniazid, and D-penicillamine come in with SLE like symptoms, what do they have?
What do you test for?

Drug-induced lupus

Anti-histone Ab's

5

Person comes in with terrible joint pain and some skin, bv's, lungs and heart issues, what do they have?

Rheumatoid arthritis

6

A woman between ages of 50-60 comes in with chronic dry eyes and dry mouth as well as difficulty with taste and parotid gland enlargement, what does she have?
What do you test? 2
What are the two types of this disease?
What happens in this disease

Sjogren syndrome

Anti-SS-A and anti-SS-B

Primary: Sjogren alone and Secondary: Sjogren with another autoimmune

CD4 and B cells enter lacrimal and salivary glands

7

A female aged 50-60 comes in with chronic inflammation, skin thickening, abdominal pain, right sided cardiac failure, pulmonary fibrosis, and weight loss anemia, what does she have?
What do you test?
What happens in this disease?

Systemic-Scleroderma Diffuse

Anti-Scl-70

Chronic inflammation, damage to blood vessels, fibrosis in alot of organs but especially skin

8

A person comes in with calcinosis, Raynaud's red discoloration of fingers with cold, esophageal dysmotility, trouble swallowing, sclerodactylyl and telangectasia, what does she have?
What do you test?
What is the pneumonic for remembering the symptoms?

Limited Scleroderma

Anticentromere

Calcinosis, Raynaud's, Esophageal dystmotility, Sclerodactyly, Telangectasia (CREST)

9

A person comes in with symmetric muscle weakness in large muscles, what does he or she have?

Inflammatory myopathy: Polymyositis

10

A person comes in with rash on upper eyelids and periorbital edema, what does he have?

Dermatomyositis

11

A person comes in with symptoms like SLE, along with Polymyositis and systemic sclerosis, what does he have?
What do you test?

Mixed CT disease
Anti-RNP antigen

12

A person comes in with necrotizing inflammation of walls of blood vessels and something seems wrong with his immune system, what does he or she have?

Polyarteritis nodosa

13

A 6 month old baby boy comes in with recurrent infection of respiratory tract (pharygitis, sinusitis, otitis media, bronchitis, and pneumonia) as well as viral infections, what does this person have?
Where is the defect?
What fails in this disease?
What is treatment?

X-linked agammaglobulinemia

Mutation in cytoplasmic tyrosine kinase (bruton tyrosine kinase (BTK)

Can't make mature B cells

Intravenous immunoglobulin

14

A teenager comes in with recurrent sinopulmonary pyogenic infections and is prone to Giarda, what does this person have?
What is happening?

Common Variable Immunodeficiency

Normal B cells are made but normal Antibodies are not. (Hypogammaglobulinemia state)

15

A person of European descent comes in with recurrent sinopulmonary infections and diarrhea as well as rejection of a recent transfusion, what does he have?
How common is this?
What happens?

Isolated IgA deficiency

Most common of all primary immunodeficiencies

Low levels of IgA causes increased risk of autoimmune disease. Naive B cells are stressed to make IgA and end up getting impaired B cells.

16

A patient comes in with recurrent pyogenic infections and has a known CD40L mutation. He tests positive for pneumocysitis jiroveci, what does he have?
What is the mutation?
What is happening?

Hyper IgM Syndrome

X linked mutation in CD40L OR Autosomal recessive mutation in CD40 or AID.

Patient can only make IgM antibodies. T cells can't communicate to B cells to make other antibodies. IgM is known to interact with blood cells in this.

17

A patient comes in with congenital defect of heart and great vessels as well as having an abnormal mouth, ears, and face, what is the disease?
What is the deficiency in?
Why does this occur and what happens?

Di-George Syndrome

T-cells

Failure of 3rd and 4th pharyngeal pounches to develop and loss of T cell mediated immunity (no T cells). Ig levels are probably normal.

18

A child comes in with thrush, diaper rash, failure to thrive, and a morbilliform rash after birth. Child has been diagnosed with candida albicans, P. jiroveci, pseudomonas, CMV, varicella, and other bacteria.
What is the disease?
What is it the result of?
What actually happens?
What is treatment?

SCID

X-linked mutation of gamma chain of cytokine receptors OR Autosomal recessive due to mutation in ADA, RAG genes, Jak3, signaling molecules, or MHCII

No B or T cells.

Bone marrow transplant

19

Young adult Patient comes in with thrombocytopenia, eczema, early infections, what does this person have?
What causes it?
What happens?
Treatment?

Wiskott-Aldrich Syndrome

X-linked mutation in gene encoding WASP protein

Gradual loss of T cells in body, and can't make Ab's to polysaccharide antigens or protein, and is prone to developing non-Hodkin B-cell lymphoma.

Bone marrow transplant

20

Patient comes in with SLE like autoimmunity, but no susceptibility to infections, what does he have?
How common is this?

C2 deficiency

Most common complement deficiency

21

A patient comes in with recurrent pyrogenic infections, what does he have?

Properdin and Factor D deficiency

22

Patient comes in with recurrent pyogenic infections, what does he have?

C3 deficiency

23

Patient comes in with increased susceptibility to Neisserial infecitons, what does he have?

C5 to C9 deficiency

24

Person comes in with life threatening asphyxia, nausa, vomiting, and diarrhea after minor trauma or emotional stress, what does he have?
What is the inheritance of this?

C1-deficiency Hereditary Angioedema

Autosomal Dominant

25

A patient has a mutation in DAF and CD59, what do they have?

Paroxysmal noctural hemoglobinuria