Step 1 Immune Deficiencies

Front 1

Low immunoglobulin of all classes; no circulating B cells; B cell marrow stopped at pre-B stage (mu chains)

Back 1

Bruton's X linked hypogammaglobulinemia
-X linked
-tyrosine kinase (btk = bruton tyrosine kinase gene)

Front 2

Onset in late teens to early 20s
B cells present
immunoglobulin levels decrease with time

Back 2

Common variable hypogammaglobulinemia
unknown cause

Front 3

Repeated sinopulmonary and GI infections; anaphylaxis on exposure to blood

Back 3

Selective IgA deficiency
-can be other Ig

Front 4

High serum titers of IgM without other isotypes

Back 4

X linked hyper-IgM syndrome
-deficiency of CD40L on activated T cells

Front 5

Recurrent infections with catalase positive bacteria and fungi

Back 5

Chronic granulomatous disease
-deficiency of NADPH oxidase

Front 6

recurrent infections with bacteria
absent NK activity
partial albinism

Back 6

Chediak-Higashi syndrome
-granule structure defect

Front 7

Recurrent and chronic infections early in life
failure to reject umbilical stump
lack of pus

Back 7

Leukocyte adhesion deficiency
CD18 (LFA-1 integrin) deficiency

Front 8

facial abnormalities
hypoparathyrodism
cardiac malformation
depression of T cell numbers

Back 8

di georgy syndrome
-3rd branchial arch
-22q syndrome

Front 9

CD8+ cells deficient
CD4+ cells normal
recurring viral infections

Back 9

MHC1 deficiency
failure of TAP 1 molecules to transport peptides to ER

Front 10

thrombocytopenia
eczema
depressed IgM
infections

Back 10

Wiskott-Aldrich syndrome
defect in cytoskeletal glycoprotein

Front 11

abnormal gait
capillary distortions in the eye
deficiency of IgA and IgE

Back 11

Ataxia Telangiectasia
defect in kinase involved in cell cycle

Front 12

chronic diarrhea, skin mouth and throat lesions, opportunistic infections, low levels of circulating lymphocytes

Back 12

SCID
-IL-2 receptor is most comon, X linked
ADA next cause
MHC class 2 and defect in T cell IL-2 signalling also causes