Immune Deficiencies

Front 1

x linked bruton's agammaglobulinemia

Back 1

1. BTK gene defect
2. no b cell maturation, normal amount pro-B cells

Front 2

selective IgA def

Back 2

1. most common primary immunodeficiency
2. anaphylaxis IgA blood products
3. false positve Beta-HGC

Front 3

CVID

Back 3

1. defect b cell maturation
2. decreased IgA
3. normal number B cells, low plasma cells

Front 4

Digeorge

Back 4

1. 22q11 del
2. failure 3rd and 4th pharyngeal pouches
3. tetany - lack parathyroid gland
4. absent thymic shadow
5. congential heart defect and great vessel defects

Front 5

IL12 receptor def

Back 5

1. decrease TH1
2. decrease INFgamma

Front 6

chronic mucocutaneous candidiasis

Back 6

1. t cell dysfunction
2. recurrent candidiasis

Front 7

hyper IgE (Job's syndrome)

Back 7

1. TH1 fail produce INFgamma and neutrophils cant respond
2. coarse facies
3. cold abscess
4. retained primary teeth
5. hyper IgE
6. dermatologic (eczema)

Front 8

SCID

Back 8

1. x linked defect IL2 receptor
2. decrease adenosine deaminase
3. thymic hypoplasia, decrease germinal centers, decrease T cell flow cytometry
4. failure to thrive
5. absent thymic shadow

Front 9

ataxia telangiectasia

Back 9

1. defect ATM gene codes DNA repair
2. UV sensitive
3. cerebellar defect, spider angiomas, decrease IgA
4. increase AFP

Front 10

hyper IgM syndrome

Back 10

1. defect CD40L on T helpers

Front 11

Wiskott-Aldrich

Back 11

1. X linked WAS gene
2. T cell cant reorganize cytoskeleton
3. thrombocytopenic purpura, eczema
4. thromocytopenia and decrease IgM

Front 12

LAD type 1

Back 12

1. defect LFA-1 integrin CD18
2. bacterial infection w//out pus
3. delayed cord seperation
4. neutrophilia

Front 13

Chedak Hegashi syndrome

Back 13

1. AR
2. defect LYST - lysossomal trafficking
3. MT dysfunction phagosome/lysosome fusion
4. partial albinism
5. peripheral neuropathy
6. giant granules in neutrophils

Front 14

CGD

Back 14

1. lack NADPH oxidase
2. abnormal dihydrorhodamine flow cytometry test