Immunodeficiency Diseases and Autoimmune Disorders III

Question 1

What defect is associated with Ataxia-telangiectasia?

Answer 1

Defects in the ATM gene which codes for DNA repair enzymes (p.207)

Question 2

What defect is associated with Hyper IgM syndrome?

Answer 2

Most commonly due to defective CD40L on helper T cells causing an inability to class switch (p.207)

Question 3

What defect is associated with Wiskott-Aldrich syndrome?

Answer 3

An X-linked defect of the WAS gene on the X chromosome preventing T cells from reorganizing actin cytoskeletons (p.207)

Question 4

What defect is associated with Leukocyte adhesion deficiency (type I)?

Answer 4

A defect in LFA-1 integrin CD18 protein on phagocytes (p.207)

Question 5

What defect is associated with Ch̩diak-Higashi syndrome?

Answer 5

An autosomal recessive defect in lysosomal trafficking regulator gene LYST. Causes microtubule dysfunction in phagosome-lysosome fusion (p.207)

Question 6

What defect is associated with Chronic Granulomatous disease?

Answer 6

Lack of NADPH oxidase decreases action of reactive oxygen species (superoxide) causing absent respiratory burst in neutrophils (p.207)

Question 7

What is the clinical presentation associated with SCID?

Answer 7

Failure to thrive, chronic diarrhea, thrush. Recurrent viral, bacterial, fungal and protozoal infections. Absence of thymic shadow, germinal centres on lymph node biopsy and B cells on peripheral blood smear (p.207)

Question 8

What is the clinical presentation associated with Ataxia-telangiectasia?

Answer 8

Cerebellar defects (ataxia), spider angiomas (telangiectasias), igA deficiency (p.207)

Question 9

What is the clinical presentation associated with Hyper IgM syndrome?

Answer 9

Severe pyogenic infections early in life (p.207)

Question 10

What is the clinical presentation associated with Wiskott-Aldrich syndrome?

Answer 10

Thrombocytopenic purpura, Infections, Eczema (p.207)

Question 11

What is the clinical presentation associated with Leukocyte adhesion deficiency type I?

Answer 11

Recurrent bacterial infections, absent pus formation, delayed separation of umbilical cord (p.207)

Question 12

What is the clinical presentation associated with Ch̩diak Higashi syndrome?

Answer 12

Recurrent pyogenic infections by staphylococci and streptococci; partial albinism, peripheral neuropathy (p.207)

Question 13

What is the clinical presentation associated with Chronic Granulomatous Disease?

Answer 13

Increased susceptibility to catalase positive organisms (e.g. S. aureus, E. coli, Aspergillus) (p.207)

Question 14

What is the treatment for SCID?

Answer 14

Bone marrow transplant (no allograft rejection) (p.207)

Question 15

What findings are associated with SCID?

Answer 15

Decreased T cell recombinant excision circles (TRECs); absence of thymic shadow, germinal centres on lymph node biopsy, and T cells on flow cytometry (p.207)

Question 16

What findings are associated with Ataxia-telangiectasia?

Answer 16

Increased AFP (p.207)

Question 17

What findings are associated with Hyper IgM syndrome?

Answer 17

Increased IgM, severely decreased IgG, IgA, and IgE (p.207)

Question 18

What findings are associated with Wiskott-Aldrich syndrome?

Answer 18

Increased IgE, and IgA, decreased IgM and thrombocytopenia (p.207)

Question 19

What findings are associated with Leukocyte adhesion deficiency type I?

Answer 19

Neutrophilia (p.207)

Question 20

What findings are associated with Ch̩diak-Higashi syndrome?

Answer 20

Giant granules in neutrophils (p.207)

Question 21

What findings are associated with chronic granulomatous disease?

Answer 21

Abnormal dihydrorhodamine (DHR) flow cytometry test. Nitroblue tetrazolium dye reduction test no longer preferred (p.207)