Chapter 6- Immunodeficiency Syndromes

Question 1

When are primary (congenital) syndromes detected?

Answer 1

6 months - 2 years of life

Question 2

What defects occur in primary congenital syndromes?

Answer 2

defect in innate immunity and defect in adaptive immunity

Question 3

Defect in innate immune system in primary congenital syndromes

Answer 3

affect leukocyte functions or complement system

Question 4

Defect in adaptive immunity in primary congenital syndromes

Answer 4

abnormalities in lymphocyte maturation or activation

Question 5

Immunodeficiency Syndromes

Answer 5

SCID

Question 6

What parts of the immune system are defective in SCID?

Answer 6

humoral and cell-mediated immune response

Question 7

What do infants with SCID present with?

Answer 7

prominent thrush (oral fungi)
extensive diaper rash
failure to thrive

Question 8

What infections are patients with SCID susceptible to? (5)

Answer 8

candida albicans
Pneumocystis jiroveci
Pseudomonas 
CMV
varicella

Question 9

When does death occur with SCID

Answer 9

in the first year without HSC (BMT) transplantation

Question 10

Genetics of SCID

Answer 10

X linked or autosomal recessive

Question 11

What occurs in X-linked Agammaglobulinemia

Answer 11

failure of B-cell precursors to develop into B cells

Question 12

Characteristics of X-linked Agammaglobulinemia (4)

Answer 12

B cells are absent
All serum Igs are depressed
Plasma cells are absent
T cell-mediated reactions are normals

Question 13

When does X-linked Agammaglobulinemia become apparent?

Answer 13

6 months which is when maternal Igs are depleted

Question 14

What infections is a patient with X-linked Agammaglobulinemia susceptible to?

Answer 14

Recurrent bacterial infections of respiratory tract
Viruses in bloodstream or mucosal secretions
Giardia lamblia

Question 15

Bacterial infections of respiratory tract with X-linked Agammaglobulinemia

Answer 15

haemophilus influenczae
streptococcus pneumoniae
staphylococcus aureus

Question 16

Viruses in bloodstream or muscosal secretion in X-linked Agammaglobulinemia

Answer 16

enteroviruses- echovirus, poliovirus, coxsachievirus

Question 17

What causes X-linked Agammaglobulinemia

Answer 17

breakdown of self tolerance and chronic infections

Question 18

Treatment for X-linked Agammaglobulinemia

Answer 18

Replacement therapy with immunoglobulins (IgG)

Question 19

What causes DiGeorge Symdrome

Answer 19

Failure of development of the 3rd and 4th pharyngeal pouches

Question 20

What cells are deficient in DiGeoge Syndrome?

Answer 20

T cells

Thymic hypoplasia

Question 21

What do the 3rd and 4th pharyngeal pouches give rise to

Answer 21

thymus, parathyroids, C cells of thyroid, ultimobrachial body

Question 22

Thymus in DiGeorge Syndrome

Answer 22

Loss of T cell-mediated immunity

Poor defense against fungal and viral infections

Question 23

Parathyroids in DiGeorge Syndrome

Answer 23

Hypocalcemia causing tetany

Question 24

Ultimobranchial body in DiGeorge Syndrome

Answer 24

Congenital defects of the heart and great vessels

Question 25

Genetics of DiGeorge Syndrome

Answer 25

22q11 deletion syndrome

Question 26

Characteristics of Hyper-IgM Syndrome

Answer 26

elevated IgM | can't produce IgG, IgA, IgE

Question 27

Cause of Hyper-IgM Syndrome

Answer 27

defect in ability of helper T cells to deliver activating signals to B cells and macrophages

Question 28

Clinical presentation for Hyper-IgM Syndrome

Answer 28

recurrent pyogenic infections

Question 29

Patients with CD40L mutations in Hyper-IgM Syndrome

Answer 29

susceptible to Pneumocystic jiroveci pneumonia

Question 30

What occur if IgM antibodies react with blood cells?

Answer 30

autoimmune hemolytic anemia thrombocytopenia neutropenia

Question 31

What is Common Variable Immunodeficiency?

Answer 31

group of disorders with hypogammaglobulinemia (low Igs)

Question 32

Characteristics of Common Variable Immunodeficiency

Answer 32

have normal/near normal numbers of B cells | but can't differentiate into plasma cells

Question 33

Difference between Common Variable Immunodeficiency and X-linked Agammaglobulinemia (3)

Answer 33

CVI has normal B cells, equal in male and female, and occurs in childhood or adolescence

Question 34

Characteristics of Isolated IgA Deficiency?

Answer 34

Extremely low levels of both serum and secretory IgA

Question 35

Symptomatic patient with Isolated IgA Deficiency

Answer 35

recurrent sinopulmonary infections and diarrhea high frequency of respiratory tract allergy autoimmune diseases

Question 36

Treatment for Isolated IgA Deficiency

Answer 36

transfuse IgA containing blood

Question 37

What occurs in IgA transfusion if patient has severe IgA deficiency?

Answer 37

IgA behaves like a foreign molecule and the patient can develop severe/fatal anaphylactic shock

Question 38

Systemic Immunodeficiencies

Answer 38

Wiskott-Aldrich syndrome | Ataxia telangiectasia

Question 39

Wiskott-Aldrich Genetics

Answer 39

X-linked

Question 40

Characteristics of Wiskott-Aldrich syndrome

Answer 40

thrombocytopenia, eczema, and recurrent infections leading to early death

Question 41

Treatment for Wiskott-Aldrich

Answer 41

HSC transplantation

Question 42

Ataxia telangiectasia Genetics

Answer 42

autosomal-recessive

Question 43

Characteristics of Ataxia telangiectasia

Answer 43

``` abnormal gait vascular malformations neurologic deficits increased incidence of tumors immunodeficiency ```

Question 44

Secondary (Acquired) Immunodeficiency (8)

Answer 44

``` Cancer Diabetes Complications of Cancer AIDS Malnutrition Irradiation Immunosuppressive therapy Chemo ```

Question 45

Irradiation and Chemo mechanism treatments for cancer

Answer 45

decreased bone marrow precursors for all leukocytes

Question 46

Malnutrition (protein-calorie) malnutrition mechanism

Answer 46

metabolic derangements inhibit lymphocyte maturation and function

Question 47

Spleen Removal mechanism

Answer 47

decreased phagocytosis of microbes