IMMUNODEFICIENCY DISORDERS

Question 1

X-linked recessive deficiency; defect in the NADPH OXIDASE system; reduced intracellular killing of ingested organisms; NBT is used for diagnosis

Answer 1

Chronic Granulomatous Disease (CGD)

Question 2

Treatment for CGD:

Answer 2

Granulocyte concentrate

Question 3

Deficiency in myeloperoxidase which is an important microbicidal agent in neutrophils

Answer 3

Myeloperoxidase deficiency

Question 4

Impaired chemotaxis and phagosome degranulation; presence of giant granules in WBCs (giant lysosomes)

Answer 4

Chediak-Higashi Syndrome

Question 5

Neutrophils demonstrate defective chemotaxis

Answer 5

Job’s syndrome

Question 6

Defective chemotactic and random movement by neutrophils

Answer 6

Laxy leukocyte syndrome

Question 7

Deficiency of tuftsin, a phagocytosis-promoting serum tetrapeptide that is cleaved from an ig like molecule, leukokinin in the spleen

Answer 7

Tuftsin deficiency

Question 8

Lack of CD 18

Answer 8

Leukocyte adhesion deficiency

Question 9

Genetic defect in the long arm of X chromosome; block in the maturation of pre B-cells; low serum levels of immunoglobulin and lack of B-cells

Answer 9

Bruton’s X-linked aggammaglobulinemia

Question 10

Most common form of selective Ig deficiency; recurrent sinopulmonary infections; IgA levels lower than 5 mg/dL

Answer 10

Selective IgA Deficiency

Question 11

Results when the onset of Ig synthesis is delayed; Hypogammaglobulinemia is common in infants between 5th-6yh month of life

Answer 11

Transient hypogammaglobulinemia

Question 12

Faulty development of 3rd and 4th pharyngeal pouches; associated with defect of chromosome 22

Answer 12

Digeorge Syndrome (Conginetal thymic Hypoplassia)

Question 13

Impaired synthesis of MIF (Migratory Inhibition Factor) by T-cells

Answer 13

Chronic cutaneous candidiasis

Question 14

Deficiency in the expression of MHC II gene products on the T-cell surface leading to a failure of antigen presentation

Answer 14

Bare lymphocyte syndrome

Question 15

Combined defect of both humoral and cell-mediated immunity; autosomal recessive type is associated with adenosine deaminase deficiency; rarely survive beyond age 1 if no treatment

Answer 15

Severe Combined Immunodeficiency Disease (SCID)

Question 16

Thymic dysplasia resulting in decreased to absent T-cell immunity; usually have marked lymphadenopathy and hepatosplenomegaly

Answer 16

Nezelof’s Syndrome

Question 17

Mutation in the WASP gene

Answer 17

Wiskott Aldrich Syndrome

WASP - Wiskott Aldrich Syndrome Protein

Question 18

Result of specific genetic defect that affects DNA repair

Answer 18

Ataxia Telangiectasia

Question 19

Mutation in SH2DA/SAP gene resulting in weakening of both cellular and humoral immunity; vulnerability to EBV infection

Answer 19

X lined Lymphoproliferative Disease (Duncan’s syndrome)