Immunodeficiency Disorders

Question 0

Recurrent infections with fungi, viruses or protozoa indicates?

Answer 0

T-cell deficiency

Question 1

Recurrent infections with pyogenic bacteria indicate?

Answer 1

B-cell deficiency

Question 2

Type of genetic susceptibility to infections since childhood, inherited

Answer 2

Primary immunodeficiency

Question 3

Acquired susceptibility to infection as a result of external processes or diseases

Answer 3

Secondary immunodeficiency

Question 4

Disorder with very low levels of all immunoglobulins, virtual absence of B cells due to tyrosine kinase mutation

Answer 4

X-linked Agammaglobulinemia/Brutons Agammaglobulinemia

Question 5

Disorder due to failure of isotype switching. Presents with recurrent bacterial sinus and lung infections

Answer 5

Selective IgA deficiency

Question 6

Mechanism of Common Variable Immunodeficiency

Answer 6

Defect in B-cell maturation to plasma cells

Question 7

Disorder due to profound deficit of T cells secondary to failure of development of thymus and parathyroids. Presents with tetany

Answer 7

Di George Syndrome - CATCH 22: cardiac defect (TOF), abnormal facies, thymic aplasia, cleft palata, hypocalcemia, 22q11.2 chromosomal deletion

Question 8

Disorder due to specific T-cell deficiency for Candida albicans. Presents with recurrent candidiasis

Answer 8

Chronic Mucocutaneous Candidiasis

Question 9

Disorder due to X-linked defect in IL-2 receptors in T-cells. Autosomal:ADA deficiency

Answer 9

Severe combined Immunodeficiency (SCID)

Question 10

Disorder due to mutation in WASP gene for actin filament assembly. X-linked. Presents with recurrent pyogenic infections, eczema and bleeding due to thrombocytopenia

Answer 10

Wiskott-Aldrich syndrome

Question 11

Disorder due to mutations in DNA repair enzymes, IgA deficiency, autosomal recessive disease. Presents with ataxia, telangiectasia

Answer 11

Ataxia-Telangiectasia

Question 12

Disorder due to lack of NADPH oxidase activity, failure of oxidative burst. Presents with recurrent infections with catalase-positive bacteria and fungi

Answer 12

Chronic Granulomatous disease

Question 13

An autosomal recessive disease due to failure of Phagolysosomal fusion and faulty microtubules impair neutrophil chemotaxis. Presents with recurrent pyogenic infections caused by staphylococci and streptococci

Answer 13

Chediak-Higashi syndrome

Question 14

Autosomal recessive disease due to mutation in integrins. Presents with severe pyogenic infections in infancy, delayed separation of umbilical cord

Answer 14

Leukocyte adhesion deficiency (LAD)

Question 15

Most common complement deficiency, usually asymptomatic but may develop septicemia or SLE

Answer 15

C2 deficiency

Question 16

Most common cause of secondary immunodeficiency

Answer 16

Malnutrition - decreased synthesis of IgG and complement