Immune Deficiencies

Front 1

inheritence and genetic mutation in Bruton's agammaglobulinemia

Back 1

x-linked recessive (occurs in boys), defect in a tyrosine kinase (BTK)

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immune deficiency in Bruton's agammaglobulinemia

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low levels of all classes of Ig's (also means they can't opsonize), have decr # b-cells

Front 3

findings in Bruton's agammaglobulinemia (1) and age of onset

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recurrent bacterial infections (often respiratory with pyogenic organism) after 6 months of age (maternal IgG decr)

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genetic and embryological disorder in DiGeorge syndrome

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failure of development of the 3rd and 4th pharyngeal pouches, 22q11 deletion

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deficiency in Di George

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T-cell deficiency (no thymus), but have normal reg T-cells which are thymus independent (also called gamma-delta T-cells), also lack Ca++ (no PTH)

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findings in Di George (3)

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tetany and convulsions due to lack of parathyroid and thus PTH, recurrent viral and fungal infections due to lack of thymus and thus T-cells, congenital defects of the heart and great vessels (truncus arteriosis and teratology of Fallot)

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defect in severe combined immunodeficiency (SCID)

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defect in early stem cell differentiation, can be due to failure to make MHC II, defective IL-2 receptors, adenosine deaminase deficiency (most common, enzyme in the purine salvage pathway)

Front 8

deficiency in severe combined immunodeficiency (SCID)

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B and T cells

Front 9

findings in severe combined immunodeficiency (SCID) (2)

Back 9

recurrent viral, fungal, bacterial and protozoal infections; no rejection of allografts

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IL-12 receptor deficiency

Back 10

present with disseminated mycobacterial infections due to decr Th1 response; giving IFN-g can help

Front 11

defect in hyper IgM syndrome

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defect in CD40 ligand on CD4 cells which causes inability to class switch

Front 12

inheritence of hyper IgM syndrome

Back 12

x-linked

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presentation of hyper IgM syndrome

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presents early in life with severe pyogenic infections, high levels of IgM, low levels of all other Igs

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inheritence in Wiskott-Aldrich and basic defect

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x-linked recessive, inability to mount an IgM response to capsular polysaccarides

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serum levels in Wiskott-Aldrich

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high IgE and IgA, low IgM

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findings in Wiskott-Aldrich (4)

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WIPE: recurrent pyogenic infections (ex: strep pneumo), thrombocytopenic purpura, eczema, incr risk of non-hodkins lymphoma

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defect in Job's syndrome

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failure of IFN-g production by helper T-cells,failure of PMNs to respond to chemotactic stimuli

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findings in Job's syndrome (6)

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FATED: facies, cold staph abscesses, retained primary teeth, incr IgE, dermatologic problems (eczema), often have red hair

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inheritence of Chediak-Higashi syndrome

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autosomal recessive

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defect in Chediak-Higashi syndrome

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defect in microtubular function and lysosomal emptying (can't form phagolysosomes) of phagocytotic cells

Front 21

findings in Chediak-Higashi syndrome (3)

Back 21

recurrent pyogenic infections by staph and strep, partial albinism, peripheral neuropathy

Front 22

presentation of leukocyte adhesion deficiency

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presents early with recurrent bacterial infections, absent pus formation, neutrophilia (decr attachement leads to incr #s in the blood), delayed separation of umbilicus

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inheritence of chronic granulomatous dz

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x-linked recessive

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defect in chronic granulomatous dz

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lack of NADPH oxidase activity which leads to defective in microbiocidal activity of neutrophils

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findings in chronic granulomatous dz

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marked susceptibility to oppotunistic infections with bacteria, esp s. aureus and E. coli and Aspergillus, Pseudomonas, nocardia (but, can kill strep because they don't have catalase to break down the peroxidase they inheriently make)

Front 26

test in chronic granulomatous dz

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negative nitroblue tetrazolium dye reduction test

Front 27

selective Ig deficiency

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possibly defect in class switching; selective IgA deficiency is the most common which presents with sinus and lung infections, milk allergies and diarrhea common, anaphylaxis to blood products with IgA

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common variable immunodeficiency

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normal circulating B cells, decr plasma cells (defect in maturation), decr Ig; can be acquired in 20-30, incr risk of autoimmune, repeated bacterial infections

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ataxia telangiectasia

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defect in DNA repair enzymes associated with IgA deficiency, also combined B and T cell def, present with ataxia and telangiectasia, loss of tumor supressor, have thymic hypoplasia