Lec 15

Front 1

Can result from abnormalities at different stages of T cell development

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Defects in cell-mediated immunity

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More difficult to manage than defects in humoral immunity

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defects in cell-mediated immunity

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is often required to restore immune function in cell mediated immunity

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allogenic bone marrow transplant

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patients with severe defects in cell-mediated immunity may be at risk of developing

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graft vs host

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Transfused lymphocytes are normally destroyed by the recipient’s T cells

A severe defect in the T cell system allows these donor lymphs to survive

The surviving donor lymphs can proliferate and attack recipient tissues.

This is potentially fatal.

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GvH

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Prevention of GvH
Cell-containing products for transfusion should be _____

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irriadiated

Front 7

This prevents GvH by destroying the donor lymphocytes’ ability to proliferate

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irradiation

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Defects in humoral immunity _____ predispose a patient to GvH

Back 8

do not

Front 9

Developmental abnormality of the 3rd & 4th pharyngeal pouches

Back 9

digorge anomaly

Front 10

digeorge anomaly-This affects thymic development as well as other organs derived from these structures during embryonic development.

This results in

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thymic hypoplasia

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Mental retardation
Absence of hyoid bone ossification
Cardiac anomalies
Abnormal facial development
Hypoparathyroidism

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abnormalities with DiGeorge

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The immunodeficiency of DiGeorge anomaly is a severe and persistent decrease in the number of

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t cells

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digeorge anomaly-The T cells that are present function normally.

But, not enough mature T cells are being made due to insufficient

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thymic tissue

Front 14

Severe cases present in the neonatal period with hypocalcemia and cardiac defects.

Effects are severe and recurrent viral and fungal infections.

The immunodeficiency may be treated with a fetal thymus transplant.

Back 14

DiGeroge Anomaly

Front 15

Rare autosomal recessive trait

Affects an enzyme involved in the metabolism of purines

A toxic purine metabolite called deoxyguanosine triphosphate accumulates

This causes the number of T cells to progressively decrease.

Back 15

PNP deficiency

Front 16

Produces a moderate to severe defect in cell-mediated immunity

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pnp

Front 17

Condition presents in infancy with recurrent or chronic:
Pulmonary infections
Oral or cutaneous candidiasis
Diarrhea
Skin infections
UTIs
Failure to thrive

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pnp

Front 18

Two-thirds of patients also have neurological disorders

No physical abnormalities are seen

Can be confused with neonatal HIV

Can be distinguished from HIV with specific tests for HIV or PNP activity.

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PNP

Front 19

May be caused by a defect that affects development of both types of lymphocytes or by defective interaction

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combined deficiency

Front 20

Severe defects of T cell function will also have effects on immunoglobulin levels.

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combined deficiency

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The most serious congenital immune deficiency

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SCID

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A group of related diseases with different causes that affect T & B cell function
x-linked is most common form

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SCID

Front 23

Abnormal gene codes for the gamma chain that is common to receptors for interleukins – 2, 4, 7, 9, & 15.

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x-linked SCID

Front 24

Live vaccines can cause severe illness.

Most patients die before the age of 2 years unless immunity can be restored by:
Bone marrow transplant
Specifically replacing a specific enzyme

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SCID`

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Rare X-linked syndrome

Only affects about 6 patients a year in the U.S.

Defined by the triad of:
Immunodeficiency
Thrombocytopenia
Eczema

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Wiscott-Aldrich Syndrome

Front 26

Defect is an abnormality of the membrane protein CD43

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WAS

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Effects
Platelets have a shortened half-life
T lymphocytes are affected

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WAS

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IgM levels are usually low.

Absence of IgM antibodies to ABO antigens are the most consistent finding and is used diagnostically.

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WAS

Front 29

usually lethal in childhood due to infection, bleeding, or malignancy.

Treatment is bone marrow or stem cell transplant.

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WAS

Front 30

Rare autosomal recessive syndrome

Characterized by cerebellar ataxia and telangiectasias especially on the earlobes and conjunctiva

Abnormal rearrangement of T cell receptor & immunoglobulin genes affects both T & B cells.

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Ataxia Telangiectasia

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progressively impaired coordination of voluntary movements)

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ataxia

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(development of reddish lesions of the skin and mucous membranes due to permanent widening of groups of blood vessels

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Telangiectasia

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Susceptible to respiratory infections

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AT

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Death usually occurs in early adulthood from pulmonary disease or malignancy.

95% of patients show an increased level of alpha-fetoprotein.

Only treatment is bone marrow transplant

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AT

Front 35

Four inherited disorders with common phenotype (autosomal or X-linked rec.)

All characterized by enzymatic deficiencies
Severe recurrent infections
Susceptible to catalase+ bacteria & fungi
Pneumonia and skin infections
Bacteremia uncommon

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chronic granulomatus disease

Front 36

Susceptible to pyogenic bacteria

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LAD

Front 37

Failure to form pus; inability to demarcate the fibrotic skin debris, and limited inflammation

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LAD-1 CD 18