Step 1 - Immuno - Immunodeficiencies

Front 1

What is wrong in Bruton's agammaglobulinemia?

Back 1

Decreased production of B cells. B cells cannot differentiate

Front 2

What is wrong in DiGeorge syndrome?

Back 2

Decreased production of T cells

Front 3

What is wrong in SCID

Back 3

Decreased production of B and T cells

Front 4

What is wrong in IL-12 receptor deficiency

Back 4

Decreased activation of T cells

Front 5

What is wrong in hyper-IgM syndrome?

Back 5

Defect in CD40 ligand on T helper cells, leading to inability to switch isotypes

Front 6

What is wrong in Wiskott-Aldrich syndrome?

Back 6

Defect in the ability to mount an IgM response to capsular polysaccarides of bacteria; associated with elevated IgE and IgA but low IgM (opposite of hyper IgM syndrome). Recall that IgM activates the classic complement pathway, along with IgG.

Front 7

What is wrong in Job's syndrome?

Back 7

Failure of IFN-gamma production by T helper cells leading to decreased activation of PMNs; PMNs fail to respond to chemotactic stimuli.

Front 8

What is wrong in leukocyte adhesion deficiency?

Back 8

Defect in LFA-1 integrin (CD18) on phagocytes

Front 9

What is wrong in Chediak-Higashi syndrome?

Back 9

Defect in microtubule function and lysosomal emptying of phagocytic cells

Front 10

What is wrong in chronic granulomatous disease?

Back 10

Lack of NADPH oxidase or similar enzymes (superoxide dismutase, myeloperoxidase); PMNs lose their microbicidal activity

Front 11

What is wrong in ataxia-telangiectasia?

Back 11

Defective DNA repair enzymes. Associated with IgA deficiency.

Front 12

What is wrong in common variable immunodeficiency (CVID)?

Back 12

Defect in B cell maturation, leading to normal number of circulating B cells but decreased plasma cells and therefore decreased Ig.

Front 13

This immunodeficiency is due to a defect in a tyrosine kinase gene (BTK)

Back 13

Bruton's agammaglobulinemia

Front 14

This immunodeficiency is associated with low levels of all classes of Ig, and a decreased number of circulating B cells, and normal pro-B cells in marrow

Back 14

Bruton's agammaglobulinemia
(Contrast to CVID, in which there is a normal number of circulating B cells)

Front 15

This immunodeficiency is associated with low levels of all classes of Ig, and a normal number of B cells

Back 15

Common variable immunodeficiency (CVID). B cells are normal, but plasma cells are decreased

Front 16

This immunodeficiency is associated with recurrent bacterial infections after 6 months of age

Back 16

Bruton's agammaglobulinemia. Maternal IgG decline at around 6 months of age, and infant is unable to produce his or her own. Antibodies are needed to kill bacteria, whereas cytotoxic T cells are more essential in fighting viruses

Front 17

This immunodeficiency occurs in boys

Back 17

Bruton's agammaglobulinemia (it is X-linked)

Front 18

These two organs fail to develop in DiGeorge syndrome

Back 18

Thymus, parathyroids

Front 19

Failure of development of these embryonic structures results in DiGeorge syndrome

Back 19

3rd and 4th pharyngeal pouches. Thymus is from third, parathyroids are from fourth (the 3rd pouch ends up below the 4th pouch in development)

Front 20

This immunodeficiency presents with tetany due to hypocalcemia

Back 20

DiGeorge syndrome

Front 21

This immunodeficiency is associated with recurrent viral and fungal infections

Back 21

DiGeorge syndrome

Front 22

This immunodeficiency is associated with congenital defects of heart and great vessels

Back 22

DiGeorge syndrome

Front 23

This is a 22q11 syndrome

Back 23

DiGeorge syndrome (deletion of 22q11)

Front 24

These are the three causes of SCID

Back 24

Adenosine deaminase deficiency, defective IL-2 receptor (most common cause), MHC II deficiency

Front 25

This immunodeficiency is associated with recurrent viral, bacterial, fungal and protozoal infections

Back 25

SCID

Front 26

A patient with this immunodeficiency syndrome will not reject any allografts

Back 26

SCID

Front 27

What is the MCC of SCID?

Back 27

IL-2 receptor deficiency, which is X-linked

Front 28

This immunodeficiency is associated with disseminated mycobacterial infection due to decreased Th1 response

Back 28

IL-12 receptor deficiency.
(Compare to DiGeorge syndrome, where there is total absence of mature T cells.)

Front 29

This immunodeficiency presents early in life with severe pygogenic infections

Back 29

Hyper-IgM syndrome.
Infections are pyogenic because they are bacterial--antibodies are key against bacteria, cytotoxic T cells are key against viruses.

Front 30

Triad of symptoms of Wiskott-Aldrich

Back 30

Recurrent pyogenic infections, thrombocytopenic purpura, eczema ("WIPE")

Front 31

This immunodeficiency is associated with elevated IgE and IgA, and low IgM

Back 31

Wilskott-Aldrich

Front 32

This immunodeficiency presents with coarse facies, noninflammed staphylococcal abscess, retained primary teeth, increased IgE, and dermatologic problems (F.A.T.E.D.)

Back 32

Job's syndrome
(PMNs fail to respond to chemotactic stimuli)

Front 33

This immunodeficiency presents early with recurrent bacterial infection, absent pus formation, neutrophilia, and delayed separation of umbilicus

Back 33

Leukocyte adhesion deficiency syndrome type I
(problem of chemotaxis)

Front 34

This immunodeficiency presents with recurrent pyogenic infection by staph and strep, partial albinism, and peripheral neuropathy

Back 34

Chediak-Higashi. Microtubule dysfunction, leading to dysfunctional phagocytosis among other things--such as transfer of melanosomes from melanocytes to epithelial cells

Front 35

This immunodeficiency presents with marked susceptibility to opportunistic infections with bacteria, especially S. aureus and E. coli and Asperigillus

Back 35

Chronic granulomatous disease
(defective PMNs)

Front 36

This immunodeficiency is confirmed by negative nitroblue tetrazolium dye reduction test

Back 36

Chronic granulomatous disease

Front 37

This immunodeficiency presents with skin and mucous membrane fungal infections

Back 37

Chronic Mucocutaneous Candidiasis
(due to T cell dysfunction specifically against Candida albicans)

Front 38

These immunodeficiencies are due to a defect in isotype switching

Back 38

CVID, Hyper-IgM, Selective IgA deficiency.
(Not Wiskott-Aldrich, which is faulty IgM production.)

Front 39

This is the most common selective Ig deficiency

Back 39

IgA

Front 40

This immunodeficiency presents with sinus and lung infections

Back 40

Selective IgA deficiency.
(IgA is mucosal antibody)

Front 41

Milk allergies and diarrhea are common in this immunodeficiency

Back 41

Selective IgA deficiency

Front 42

Patients with this immunodeficiency suffer anaphylaxis upon exposure to blood products containing IgA

Back 42

Selective IgA deficiency

Front 43

This immunodeficiency presents with cerebellar problems and spider angiomas

Back 43

Ataxia-telangiectasia (IgA deficiency)

Front 44

This immunodeficiency can be acquired in 20s-30s

Back 44

Common variable immunodeficiency (CVID). It is "common" because it is the MCC of primary immunodeficiency. It is also called hypogammaglobulinemia, which makes more sense, since it is a plasma cell deficiency (contrast to SCID, which knocks out both B and T cells)

Front 45

This immunodeficiency is associated with increased risk of autoimmune disease and lymphoma

Back 45

Common variable immunodeficiency (CVID)