Immune Deficiencies

Front 1

Patient comes in with recurrent bacterial infections at 6 months of age. Why 6 months, and whats the disease?

Back 1

X-linked recessive agammaglobulinemia. At 6 months, maternal IgG declines

Front 2

Patient comes in with right ventriclar heave, tetany, and consistent flu-like symptoms and candidal infections. Whats the cause?

Back 2

Failure of development of 3rd and 4rd pharyngeal pouch (3rd is inferior ParaT and Thymus, 4th is Superior ParaT. Digeorge's syndrome

Front 3

Patient comes in with repeated giardia infections, bacterial infections, and candidal infections. Cause?

Back 3

Adenosine Deaminase Deficiency - sucesfully treated with anti-retroviral therapy. SCID

Front 4

Patient comes in with infection in the bones and lungs, that is acid fast. Cause?

Back 4

Decreased Th1 response - IL-12 Deficiency - treat with IFN-gamma to activate macrophages

Front 5

1 month Patient comes in with strept throat and inflamed skin and erythametous tongue. Cause

Back 5

Hyper IgM syndrome - defect in CD40 ligand on CD4 T helper cells - inability to class switch. High IgM, low Ig G, A, E

Front 6

Patient comes in with recurrent pneumonia, scaly skin, and decreased platelet count. Cause?

Back 6

X-linked recessive Wiskott Aldrich Syndrome. Increased IgA, low IgM (cannot mount IgM response to capsular polysaccharides of bacteria). Get Pyogenic infections, thrombocytopenic purpura, and eczema

Front 7

Patient comes in with coarse facial features, mucocotuanoues candidal infections, recurrent pneumonia, eczema, and retained primary teeth. Cause?

Back 7

Job's Syndrome - Failure of IFN-gamma production by helper t-cells. Neutrophils fail to respond to chemotactic stimuli. Also see staphylococcal abscess and increased IgE

Front 8

2 month patient presents with recurrent bacterial infections, no pus, and umbilical cord had to be removed by surgery- Cause

Back 8

Leukocyte adhesion deficiency. Defect in LFA-1/Beta Integrin. No CD18

Front 9

Patient comes in with whiteness of part of his hair hand face, nystagmus, recurrent bouts of pneumonia and skin infections. On microscope you see giant lysosomal inclusions in neutrophils. Cause?

Back 9

Autosomal Recessive Chediak Higashi Disease - defect in microtubular function and lysosomal emptying of phagocytic cells. Defect in phagosome lysosome fusion

Front 10

Patient comes in with recurrent granulomas and staph positive infections, as well as diarrhea. Also, you see a negative Nitroblue tetrazolium dye test. Cause?

Back 10

NADPH oxidase deficiency - aka - CGD - inability to kill staph and e. coli and Apergilus, but not strept (can kill strept)

Front 11

Patient comes in with recurrent white patches in the mouth and nose. Also gets skin involvement positive for candida.

Back 11

T-cell dysfunction specifically against candida. T-cell important for superficial candidal infections and Neutrophils are important for disseminated candida

Front 12

Patient comes in with persistent respiratory infections and diarrhea that is foul smelling

Back 12

Selective IgA deficiency - selective Immunoglobulin deficiency. Often from IgG against IgA, also gives a propensity for ABO-incompatibility

Front 13

Patient comes in with recurrent respiratory infections, problems with their gait, and blanching skin lesions. Patients calcium is normal, and they have thymic hyperplasia, and decreased serum IgA

Back 13

Ataxia Telangiectasia - Defect in DNA repair enyzmes, associated with IgA - defective ATM gene

Front 14

25 y.o. patient comes in with decreased plasma cells - what woudl you expect B-cell count to be, and Ig levels to be?

Back 14

Normal B-cell levels, decreased Ig levels. Common variable immunodeficiency -

Front 15

Patient comes in with Fever, pruritic vesicles, pain in the shoulders and knee, and 3.5 grams of protein in their urine. Patient was given a drug 5 days ago. What would compliment levels be? and what would you see in the blood vessels

Back 15

Hypocomplimenemia (due to increased activation) leading to tissue damage, and fibrinoid necrosis and neutrophil infiltrate in vessel wall. If this is local, its called arthus reaction.