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31 Cards in this Set

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Dx:

boys afound 6 mo w/ absence of plasma cells in tissue, recurrent bacterial infections w/ strep, staph, h. influenzae and pneumococci, absent or poorly defined germinal centers in LN, no immunoglobulins

genetic problem?
Bruton's Agammaglobinemia

(Brutons = Boys = Bacteria infect)

(X-recessive)
MCC of B-cell defect
Isolated IgA deficiency
Dx:

sinus and lung infections, milk allergies, diarrhea
Isolated IgA deficiency

(infections of mucosal surfaces)
Dx:

recurrent viral and fungal infections, tetany, lymphopenia, cardiac defects, cleft palate
Di George syndrome


(CATCH-22; 22q11 deletion)
Dx:

severe bacterial, viral, fungal and protozoal infections, failure-to-thrive, high incidence of malignancy, thymic and LN hypoplasia
Severe Combined Immunodeficiency Dz
(SCID)

(no/low B or T cells)
(3) possible causes of SCIDs
Failure to make MHC-2;

defective IL-2 receptors

Adenosine Deaminase Deficiency (ADA)
Dx:

Eczema, thrombocytopenic Purpura, recurrent Infections, elevated IgA, low IgM

genetic problem?
Wiscott-Aldrich syndrome

(WIPE = Wiscott, Infect, Purpura, Eczema)

(X-linked disorder)
what is the dysfunction if patient gets chronic Candida albicans infections?
T-cell dysfunction
Dx:

cerebellar problems, spider angiomas, IgA deficiency

where is the defect?
Ataxia-Telangiectasia

defect:
DNA reapir enzyme
what lymphocyte surface protein deficiency would cause an increase in mycobacterial infections?
IL-12 receptor deficiency
Dx:

baby presents w/ severe pyogenic infections, high IgM, very low IgG, IgA and IgE

where is the defect?
Hyper-IgM syndrome

defect:
CD40L on Th1 helper cells
(leads to inability to class-switch)
Dx:

recurrent "cold" staph abscesses, eczema, coarse facies, Retained Primary Teeth, increased IgE

where is the defect?
Job's syndrome


defect:
Failure of INF-gamma by T-cells (low Macros)
What cell surface protein on HIV binds to CD4 T-cells?

what does it inser into host genome?
gp120


Proviral DNA
(via reverse transcriptase)
what is the test for HIV?

follow-up test?
ELISA


follow: Western Blot
what type of genome does HIV have?
Diploid
(2 molecules of RNA)
what is the rectangular nucleocapsid protein (holds the 2 molecules of RNA) in HIV?
p24 capsid
what is the product of HIV reverse transcriptase?
dsDNA
(2) AIDS criteria
CD4 < 200

or

CD4/CD8 ratio < 1.5
what homozygous mutation gives immunity to HIV?
CCR5 mutation
Dx:

lymphadenopathy, weight loss, arthritis, photosensitivity, raynauds, pulmonary fibrosis, endocarditis, immune-complex vasculitis, glomerular changes

COD?
SLE


COD:
Renal failure (and infections)
what may be the earliest lab abnormality in some SLE patients?
False Positive test for Syphilis
Dx:

tightening of facial skin, sclerodactyly (claw-hand), raynauds, dysphagia, pulmonary fibrosis, HTN
Scleroderma

(CREST-syndrome also has calcinosis and telangiectasia)
Dx:

xerostomia (dry mouth), keratoconjunctivitis (dry eyes), RA or other CT problem, hypergammaglobinemia, parotid enlargement
Sjogren syndrome

[when you're JOGin' you sweat and get dry]
Dx:

chronic inflammation of proximal extremity muscles due to CD8 injury, possible reddish-purple rash on face and neck, increased CK and Adolase
Polymyositis

(w/ skin rash: Dermatomyositis)
Dx:

arthralgias, raynauds, myositis, esophageal hypomotility, no renal involvement

antibody?
Mixed Connective Tissue Dz
(MCTD)

Ab: anti-nRNP
Amyloid associated with:

heart, muscle and tongue; plasma cell disorders
AL (Amyloid Light chain)
Amyloid associated with:

kidney, liver, adrenals, pancreas, LN and spleen
AA protein
Amyloid associated with:

chronic inflammatory diseases:
RA, TB, osteomyelitis, syphilis
AA protein
Amyloid associated with:

Alzheimers
(2)
amyloid Beta-protein;

A4 amyloid
Amyloid associated with:

Insulin or glucagon (in DM-2)
(2 names)
Amylin

Islet Amyloid Polypeptide
(IAPP)
Amyloid associated with:

Elderly (called senile Amyloidosis)
Transthyretin