Primary Immunodeficiencies

Question 1

Molecular defect of chronic granulomatous disease

Answer 1

Deficiency of NADPH oxidase.

Failure to generate superoxide anion, other O2 radicals

Question 2

Molecular defect of Leukocyte adhesion deficiency

Answer 2

Absence of CD18 - common B chain of the leukocyte integrins.

Question 3

Integrins that contain CD18

Answer 3

LFA-1
MAC-1
gp150/95

Question 4

Molecular defect of Chediak-Higashi syndrome

Answer 4

Nonsense mutation in the lysososmal trafficking regulator, CHS1/LYST protein, leads to aberrant fusion of vesicles

Question 5

Molecular defect of G6PD deficiency

Answer 5

Deficiency in glucose-6-phosphate dehydrogenase; essential enzyme in hexose monophosphate shunt

Question 6

Molecular defect of myeloperoxidase deficiency

Answer 6

defect in MPO affects the ability to convert hydrongen peroxide to hypochlorite

Question 7

Molecular defect of hyperimmunoglobulin E syndrome (formerly Job syndrome)

Answer 7

Defects in JAK-STAT signaling pathway leading to impaired Th17 function: decreased IFN-gamma production

Question 8

Defects of phagocytic cells

Answer 8

Chronic granulomatous disease
Leukocyte adhesin deficiency
Chediak-Higashi syndrome
Glucose-6-phosphate dehydrogenase deficiency
Myeloperoxidase deficiency
Hyperimmunoglobulin E syndrome

Question 9

Symptoms of CGD

Answer 9

Recurrent infections with catalase-positive bacteria and fungi

Question 10

Symptoms of leukocyte adhesion deficiency

Answer 10

Recurrent and chronic infections, failure to form pus, and delayed separation of umbilical cord stump.

Question 11

Symptoms of Chediak-Higashi syndrome

Answer 11

Recurrent infection with bacteria: chemotactic and degranulation defects; absent NK activity, partial albinism

Question 12

Symptoms of G6PD deficiency

Answer 12

Recurrent infections with catalase-positive bacteria and fungi with associated anemia

Question 13

Symptoms of myeloperoxidase deficiency

Answer 13

mild or none

Question 14

Symptoms of hyperimmunoglobulin E syndrome

Answer 14

Characteristic facies, severe, recurrent, sinopulmonary infections, pathologic bone fractures, retention of primary teeth, increased IgE, eczematous rash

Question 15

Defects of humoral immunity

Answer 15

Bruton (X-linked) agammaglobulinemia
X-linked hyper-IgM syndrome
Selective IgA deficiency
Common variable Immunodeficiency
Transient hypogammaglobulinemia of infancy

Question 16

Molecular defect of Bruton agammaglobulinemia

Answer 16

Deficiency of Bruton tyrosine kinase (btk) which promotes pre-B cell expansion; faulty B-cell development

Question 17

Molecular defect of X-linked hyper-IgM syndrome

Answer 17

Deficiency of CD40L on activated T cells

Question 18

Symptoms of Selective IgA deficiency

Answer 18

Decreased IgA leves, with normal IgM and IgG with elevation of IgE. Repeated sinopulmonary and gastrointestinal infections, increased atopy

Question 19

Symptoms of common variable immunodeficiency

Answer 19

Onsets in late teens, early twenties; B cells present in peripheral blood, immunoglobulin levels decrease with time; increased autoimmunity

Question 20

Selective T-cell deficiency

Answer 20

DiGeorge Syndrome
MHC class I deficiency

Question 21

Combined partial B and T cell deficiency

Answer 21

Wiskott-Aldrich syndrome

Ataxia telangiectasia

Question 22

Complete functional B and T cell deficiency

Answer 22

Severe combined immunodeficiency
Bare lymphocyte syndrome/MHC class II deficiency

Question 23

Defect in DiGeorge syndrome

Answer 23

Heterozygous deletion of chromosome 22q11; failure of formation of 3rd and 4th pharyngeal pouches, thymic aplasia

Question 24

Defect of MHC class I deficiency

Answer 24

Failure of TAP 1 molecules to transport peptides to endoplasmic reticulum

Question 25

Signs of deficiency in the MAC

Answer 25

Recurrent meningococcal and gonococcal infections

Question 26

deficiency in hereditary angioedema

Answer 26

C1-INH