Immunodeficiencies

Question 1

T cells found in

Answer 1

paracortical areas

Question 2

B cell deficiences cause problems with _______

Answer 2

pyogenic bacterial infections

Question 3

T cell deficiencies cause __________

Answer 3

Viral and other intracellular rxs

Question 4

______________ important to prevent malignancies

Answer 4

Cell mediated immunity (T cells)

Question 5

Many are X-linked (more common in boys). Some autosomal recessive. Variable time for clinical manifestations.

Answer 5

Maturation defects

Question 6

Mutation in gamma chain receptor for cytokines. No IL-7 signals. T cells, NK cells, IG serum levels decreased

Answer 6

X-linked SCID

Question 7

Accumulation of toxic metabolites in lymph. T cells, B cells, and serum IG levels down

Answer 7

Autosomal recessive SCID due to ADA deficiency

Question 8

Accumulation of toxic metabolites in lymph. Decrease in T cells

Answer 8

Autosomal recessive SCID due to PNP deficiency

Question 9

Mutations in RAG can cause

Answer 9

Autosomal recessive SCID

Question 10

Missing JAK3 can cause _________

Answer 10

Autosomal recessive SCID

Question 11

IL7 important for

Answer 11

Pro T cells developing into mature T cell

Question 12

IL-15 critical for

Answer 12

Development of NK cells

Question 13

Missing gamma chain in X-linked SCID mainly affects ___________ cytokines

Answer 13

IL7 and IL15

Question 14

Deficiency in _______ or _________ enzymes causes accumulation of toixc products that affects DNA synthesis

Answer 14

ADA or PNP

Question 15

Want to treat as early as possible. Stem cell transplant ideal method (must have compatible donor). Gene therapy with viral vector

Answer 15

SCID

Question 16

SCID most successfully treated with gene therapy

Answer 16

ADA deficiency

Question 17

Treat _______ by inserting gamma gene into bone marrow stem cells with viral vector, and transplanting it back into patients. Use lentivirus now to treat.

Answer 17

X-linked SCID

Question 18

Mother is carrier, seen in male offspring. Mutation of bruton’s tyrosine kinase. Rare. Repeated bacterial infection with absence of all IG classes

Answer 18

Bruton’s agammaglobulinemia

Question 19

Inability of pre-B cells to develop into mature B cells

Answer 19

Bruton’s agammaglobulinemia (X-linked)

Question 20

B cells found in

Answer 20

Germinal centers and follices

Question 21

Infants typically get recurrent otitis media, pneumonia, and sinusitis. Often infections with Strep pneumo, H. flu, and Staph. Problems with encapsulated bacteria. Chronic sinusitis common

Answer 21

X-linked agammaglobulinemia

Question 22

No CD19 on B cells. Serum IG levels decreased. Germinal centers underdeveloped. Plasma cells absent. Increase in autoimmune disease. T cell rxs okay.

Answer 22

X-linked agammaglobulinemia

Question 23

Dysmorphogenesis of 3rd and 4th pharyngeal pouches. Thymus, parathyroid, lip, and ears.

Answer 23

DiGeorge

Question 24

Suggested by presence of neonatal tetany with absent thymic shadow. Decreased numbers of T cells. Decreased antibody response. Depletion of paracortical areas.

Answer 24

DiGeorge

Question 25

Deletion of band q11.2 on long arm chromosome 22. Found in more than 90% of patients with this disease. Gene in deleted region responsible for development of _____________
Associated with schizophrenia and bipolar disorder

Answer 25

DiGeorge

Brachial arch and great vessels

Question 26

Mutation in CD40 ligand gene on X chromosome. Causes absence of CD40L on CD4 T cells. Lack of class switching. Causes elevated levels of IgM. Causes defects in DTH. Susceptible to intracellular Pneumo jiroveci

Answer 26

X-linked hyper IgM syndrome

Question 27

Most common primary deficiency. Cause unknown. No IgA secreting plasma cells. Low serum IgA with other IG levels normal. Patients can be asymptomatic or have recurrent sinopulmonary infections and diarrhea

Answer 27

Selective IgA Deficiency

Question 28

Failure of B cells maturation into plasma cells. Low serum levels IgG and IgA, normal IgM levels. Mature B cells but absence of plasma cells. Presentation and pathogenesis is highly variable. Major problems are respiratory and GI infections with pyogenic bacteria

Answer 28

Common Variable Immunodeficiency

Question 29

X-linked multisystem syndrome with triad of problems. Thrombocytopenia, eczema, recurrent bacterial infections. Immune defects variable. Patients can’t respond to bacterial polysaccharides. Low IgM levels. Treated with gene therapy

Answer 29

Wiskott-Aldrich

Question 30

Multisystem disorder. Neurological problems (staggering gate), vascular problems (abnormal dilation). Affects both T and B cells. Low levels of IgA and IgG. Inability to respond to skin tests. Reduction in T cells

Answer 30

Ataxia Telangiectasia

Question 31

Characterized by recurrent intracellular bacteria and fungal infections

Answer 31

Defects in innate immunity

Question 32

Defect in adhesion of leukocytes to vascular endothelium. Limits recruitment of cells to sites of inflammation. Bacterial infections without pus formation.

Answer 32

Leukocyte adhesion deficiency

Question 33

In leukocyte adhesion deficiency the defect is on the _______________ involving _________ ligand and ________ of integrin

Answer 33

Leukocyte
Selectin
Beta chain

Question 34

Phagocytes with giant dysfunctional granules, do not have ability to kill bacteria

Answer 34

Chediak-Higashi Syndrome

Question 35

Defective production of reactive oxygen intermediates. Intracellular survival of microbes resulting in granuloma formation.

Answer 35

Chronic Granulomatous Disease

Question 36

Test measuring for respiratory burst

Answer 36

NBT

Nitroblue Tetrazolium Test

Question 37

Non-fluorescent molecule taken up by phagocytes and oxidized to green fluorescent compound by NADPH oxidase

Answer 37

Neutrophil function test

Question 38

Deficiencies in neisseria infections with defects in __________________ of complement activation

Answer 38

late steps

Question 39

Deficiencies in C2 and C4 cause increased incidence of __________

Answer 39

immune complex diseases

Question 40

Complement deficiencies can cause ___________. Deficiency in C1 inhibitor. Results in excessive activation of C4 and C2. C2 kinin leads to localized edema

Answer 40

Hereditary angioedema

Question 41

Complement deficiencies lead to ___________. Deficiency in DAF. Host cells not protected from activation of complement. Characterized by intravascular hemolysis. Occurs at night when pH drops

Answer 41

Paroxysmal Nocturnal Hemoglobulinemia

Question 42

Herpes virus can secrete proteins similar to ________

Answer 42

IL-10

Question 43

Metabolic disturbances inhibit ___________ maturation and function

Answer 43

lymphocyte

Question 44

Causes decreased phagocytosis of microbes and susceptibility to infection by encapsulated bacteria

Answer 44

Absence of spleen

Question 45

Overall function of immune system in neonate is reduced. Neonate depends significantly on innate immunity. Antibody protection comes from placental transfer of IgG. Development of Th1 and CD8 T cell responses are delayed. Infant’s own production of IgG not fully developed yet.

Answer 45

Physiological hypogammaglobulinemia

Question 46

Prolongation of physiological hypogammaglobulinemia. Prolonged to 9-15 months of age but may tke 2-4 years before becoming normal. IgG levels 2 standard deviations below mean. Cause unknown. Some infants asymptomatic and others have recurrent infections. Self-limited disorder. Have normal antibody response to immunization with tetanus and diphtheria toxoids

Answer 46

Transient hypogammaglobulinemia of infancy

Question 47

Must use __________ to know total number of T and B cells

Answer 47

Flow cytometry