Immune Deficiencies

Front 1

Decreased production of B CELLS

Back 1

=Bruton's Agammaglobulinemia

**X-linked RECESSIVE = occurs in males
=defect in tyrosine kinase gene --> low levels of all classes of immunoglobulins

**Associated w/ recurrent BACTERIAL infections after 6mo of age --> i.e. when levels of maternal IgG antibody decline

Front 2

Decreased production of T CELLS

Back 2

=DiGeorge Syndrome (thymic aplasia)

**22q11 DELETION
=thymus and parathyroids fail to form BECAUSE the 3rd and 4th pharyngeal pouch didn't form

Front 3

Presentation?

Back 3

**Recurrent viral and fungal infections due to T-cell deficiency

**TETANY = hypocalcemia

**Congenital defects of the heart and great vessels

Front 4

Decreased production of T AND B CELLS

Back 4

=Severe Combined Immunodeficiency (SCID)

**Defect in early stem-cell differentiation

Causes:
=failure to synthesize MHC II antigens
=defective IL-2 receptors
=adenosine deaminase deficiency

Front 5

How does it present?

Back 5

**Recurrent viral, bacterial, fungal, and protozoal infections

Front 6

Decreased ACTIVATION of T Cells

Back 6

=i.e. IL-12 receptor deficiency

**presents w/ disseminated MYCOBACTERIAL infections

Front 7

Decreased ACTIVATION of B-Cells

=Hyper-IgM Syndrome

Back 7

**Defect in CD40 ligand on CD4 T helper cells leads to the INABILITY to class switch

THUS, high levels of IgM, VERY low levels of IgG, IgA, and IgE

Front 8

Presentation?

Back 8

**Presents early in life w/ severe PYOGENIC infections

Front 9

Decreased ACTIVATION of B-Cells

=Wiskott-Aldrich Syndrome

Back 9

**X-LINKED defect
=can't mount an IgM response to CAPSULAR POLYSACCHARIDES of bacteria

**Associated with:
=elevated IgA levels
=normal IgE levels
=LOW IgM levels

Front 10

Triad of Symptoms:

Back 10

W-IPE

1) Recurrent pyogenic INFECTIONS

2) Thrombocytopenic PURPURA

3) ECZEMA

Front 11

Decreased ACTIVATION of Macrophages

Back 11

**Job's Syndrome

=failure of gamma-interferon production by helper T-cells
=neutrophils fail to respond to chemotactic stimuli

**HIGH LEVELS of IgE

Front 12

Presenation:

Back 12

=reccurent "cold" (noninflammed) staph abscesses

=eczema

=coarse facies

=retained primary teeth

Front 13

Phagocytic Cell Deficiency

Back 13

1) Leukocyte Adhesion Deficiency Syndrome

2) Chediak-Higashi Disease

3) Chronic Granulomatous Disease

Front 14

Leukocyte Adhesion Deficiency Syndrome

Back 14

**Defect in LFA-1 adhesion proteins on phagocytes

=presents w/ early severe pyogenic and fungal infections and DELAYED separation of umbilicus

Front 15

Chediak-Higashi

Back 15

**AR**

=defect in microtubular function and lysosomal emptying of phagocytic cells

Front 16

Presentation

Back 16

**Recurrent infections by staph and strep

**Partial albinism

**Peripheral neuropathy

Front 17

Chronic Granulomatous Disease

Back 17

**Defect in phagocytosis of neutrophils owing to LACK of NADPH oxidase activity

Front 18

Presenation?

Back 18

**Marked susceptibility to opportunistic infections with bacteria, esp:

=S. aureus
=E. coli
=Aspergillus

Front 19

Diagnosis confirmed by?

Back 19

**negative nitroblue tetrazolium dye reduction test

Front 20

Chronic Mucocutaneous Candidiasis

Back 20

**T-cell dysfunction specifically against Candida albicans

=presents w/ skin and muccous membrane Candida infections

Front 21

Selective Immunoglobulin Deficiency

Back 21

**Deficiency in a specific CLASS of immunoglobulins

=possibly due to a defect in CLASS SWITCHING

**Selective IgA deficiency is the MOST common
=sinus and lung infections
=milk allergies and diarrhea common

Front 22

Ataxia-Telangiectasia

Back 22

**Defect in DNA repair enzymes w/ associated IgA deficiency

**Presents w/ CEREBELLAR problems (ataxia) and SPIDER ANGIOMAS (telangiectasia)

Front 23

Common Variable Immunodeficiency

Back 23

**Normal numbers of circulating B cells

BUT:
=decreased plasma cells
=decreased Ig

**Can be acquired in 20s-30s