2.4 Autoimmune Pathoma

Question 1

Whats up with DiGeorge Syndrome?

whats the deletion

how does it present?

Answer 1

Developmental failure of 3rd/4th pharyngeal pouch

• 22q11
• -*T-cell deficiency (Lack of Thymus)
• Hypocalcemia (Lack of parathyroid)
• Cardiac Defects

Question 2

Whats up with SCID?

what are the deficiencies?

tx?

Answer 2

Defective cell mediated (T-cell) and Humoral mediated (B-cell) immunity

-Adenosine Deaminase Deficiency

MHC class II deficiency

-bubble boy/ bone marrow transplant

Question 3

whats up with X-linked agammaglobulinemia

whats the defect?

when do you get it? why?

Answer 3

-fuck up of B-cell maturation

complete lack of immunoglobulins

• defect in BTK (Bruton Tyrosine Kinase)
• After 6 months of life which is when maternal IgG depletes

Question 4

Common Variable Immunodeficiency

Answer 4

B-cell defect.

low immunoglobulin

-increased risk of autoimmune dz and lymphoma

Question 5

Selective IgA deficiency

What type of infections

Answer 5

• low serum IgA (duh)
• mucosal infections

Question 6

Hyper IgM Syndrome

wheres the mutation

what type of infections?

Answer 6

increased levels of IgM

mutation at CD40L (cant class switch)

-decreased IgA, IgE, IgG

Pyogenic infections, mucosal infections

Question 7

Wiskott-Aldrich Syndrome

(W.A.T.E.R)

Answer 7

• Mutation in WAS gene
• Wiskott Aldrich Thrombocytopenia Eczema Recurrent infections

Question 8

Systemic Lupus erythematosus

Presentation

labs?

Answer 8

Autoimmune Dz

-Malar “butterfly” Rash. Chronic inflam, Arthritis, CNS psychosis

Renal Damage (Cause of death)/ Heart problems

Libman-Sacks-Endocarditis (SLE–>LSE) Vegetations on both sides of a valve

-Antinuclear antibody (ANA) + Anti-dsDNA

Question 9

What are the Lupus causing drugs?

what antibodies do they produce?

Answer 9

Hydralazine, procainamide, Isoniazid

AntiHistone antibodies

Question 10

Anti-phospholipid syndrome

what are the two antibodies?

what can they lead to?

tx?

Answer 10

Associated with Lupus

Autoantibody associated with proteins on phospholipid. Hypercoag state

Anticardiolipin + lupus anticoagulant (falsely increases PTT)

• false positive syphillis test*
• -*life long anticoag tx

Question 11

Sjogren Syndrome

presentation?

lab test? what other dz is SS associated with?

what could enlarged parotids lead too?

Answer 11

Autoimmune destruction of Lacrimal and Salivary glands.

-dry eyes, dry mouth, dental carries

• presence of ANA: Anti-SS-A/ Anti-SS-B (ribonucleoproteins)
• Rheumatoid arthitis
• enlarged parotids=could mean B Cell Lymphoma

Question 12

Scleroderma

Diffuse vs Localized

Answer 12

Triad: Autoimmunity, noninflam vasculopathy, Collagen depositions w/ Fibrosis

Diffuse: widespread involvement of skin and viscera. Anti SCL-70 antibody (Anti-DNA Topoisomerase I antibody)

Localized: local skin involvment of fingers and face. CREST syndrome- Calcinosis/anti Centromere ab, Raynauds, Esophageal dysmotility, Sclerodactyly, Telangeictasia

Question 13

Mixed Connective Tissue Dz

whats the antibody?

Answer 13

Grab bag of a lil bit of SLE, Scleroderma, polymyosistis

Anti-U1 RNP antibodies