Module 8: Primary immune deficiencies Flashcards Preview

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Flashcards in Module 8: Primary immune deficiencies Deck (14)
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Cellular immune deficiencies

thymic hypoplasia
Nezelof's syndrome


Thymic Hypoplasia

Thymus and parathyroid glands do not develop normally
Patients are hypocalcemic due to lack of PTH

Decreased # of T cells
Ig levels normal or decreased

Patients require CMV negative irradiated blood products


Nezelof's Syndrome

Thymus is small with abnormal morphology
Secondary lymph tissue are also reduced in size
Parathyroid is normal

Decreased # of T cells
IVIg if required


Humoral immune deficiencies

X-linked agamma-globulinemia (Brutons)
Selective IgA deficiency
Transient Hypogamma-globulinemia of infancy
X-linked hyper-IgM syndrome


X linked agamma-globulinemia (burtons)

Defect in B cell maturation due to missing enzyme

Circulating mature B-cells are rare
IgG, IgA, IgM are decreased or absent
No Ab response to antigen stimulation


Selective IgA deficiency

Patients have a near or complete absence of serum and secretory IgA

*Patient may develop anti IgA if exposed to blood products
Patients with risk of Anti-IgA risk serious allergic reaction to blood product containing IgA

***DO NOT transfuse IgA containing blood products to patients that have developed Ab to IgA


Transient Hypogamma-globinemia of Infancy

Prolongation of the decline in maternal Ig


Combined cellular and humeral immunodeficiencies

Severe combined immune deficiency (SCID)
Wiskott-Aldrich Syndrome
Ataxia Telangiectasia


Severe combined immune deficiency (SCID)

Failure of lymphoid stem cells to develop

Infants show markedly decreased mature T cell percentage
Both B and T cells non functional
NK cells are deficient
Ig levels very low

Mutation in gene for several cytokine receptors (mutation is Adenosine deaminase enzyme)


Wiskott-Aldrich Syndrome

Inability to respond to polysaccharide antigens

Infants have decreased number and function of T cells
B cells are decreased

Therapy includes PLT transfusions and gamma globulin administration
Treatment: splenectomy, HSC transplant


Ataxia Telangiectasia

Defect in DNA repair
T cell deficiency and disordered Ig synthesis

Decrease in Th cells, Ig levels


Phagocytic deficiencies

Leukocyte adhesion defect (LAD)
Chronic Granulomatous disease
Chediak Higashi syndrome


Leukocyte adhesion defect

Leukocytes cannot adhere to endothelial cells

Cord stub doesn't heal properly


Chronic Granulomatous disease

From impairment of the phagocytes' ability to produce oxygen radical and hydrogen