Immune/Vaccinations

Question 1

What does an intradermal skin test using Candida albicans test for?

Answer 1

T cell deficiencies (e.g. DiGeorge syndrome)

Question 2

What are Howell-Jolly bodies on peripheral blood smear a sign of?

Answer 2

Asplenia

Question 3

What disease is likely to cause of multiple recurrent abscesses in a small child?

Answer 3

Chronic granulomatous disease (defective phagocyte NADPH oxidase)

Question 4

What are features of Wiskott-Aldrich syndrome?

Answer 4

Mild T-cell dysfunction, diminished serum IgM, marked elevation of IgA and IgE, normal to decreased IgG, eczema, recurrent middle-ear infections, lymphopenia, and thrombocytopenia

Question 5

What are features of Job syndrome?

Answer 5

A disorder of phagocytic chemotaxis associated with hypergammaglobulin E, eczema-like rash, and recurrent severe staphylococcal infections

Question 6

What is cyclic neutropenia?

Answer 6

Autosomal dominant condition where neutropenia occurs about every 3 weeks resulting in episodes with symptoms such as fevers, oral ulcers, lymphadenopathy, and pharyngitis that last 3-5 days. Treated with Recombinant human granulocyte colony-stimulating factor (rhG-CSF)

Question 7

What are the laboratory findings in hyper-IgM syndrome?

Answer 7

Normal B cells, decrease IgG and IgA, increased IgM (leads to recurrent sinopulmonary infections)

Question 8

What is the genetic defect behind hyper-IgM syndrome?

Answer 8

X-linked, defect of the CD40 ligand on T cells which causes B cells to primarily class switch to IgM

Question 9

What is the etiology of Wiskott-Aldrich syndrome?

Answer 9

X-linked recessive defect in the WAS protein gene. Leads to impaired cytoskeleton changes in leukocytes and platelets

Question 10

What is the treatment for Wiskott-Aldrich syndrome?

Answer 10

Stem cell transplant

Question 11

How does common variable immunodeficiency present?

Answer 11

Recurrent respiratory (e.g pneumonia, sinusitis, otitis) and GI (e.g. Salmonella, Giardia, Campylobacter) infections, autoimmune disease (e.g. RA), chronic lung disease (e.g. bronchiectasis) and GI disorders (e.g. chronic diarrhea, IBD-like conditions)

Question 12

How is common variable immunodeficiency diagnosed?

Answer 12

Very decreased IgG, decreased IgA and IgM. Patients have no response to vaccination

Question 13

How is common variable immunodeficiency treated?

Answer 13

Immunoglobulin replacement therapy

Question 14

How is severe combined immunodeficiency diagnosed on newborn screening?

Answer 14

Absence of T cell receptor excision circles (circular DNA excreted by developing T cells in the thymus)

Question 15

What tests are used for diagnosing chronic granulomatous disease?

Answer 15

Dihydrorhodamine 123 test and nitroblue tetrazolium test

Question 16

What immunoglobulin deficiency can result in anaphylaxis after blood transfusion?

Answer 16

Selective IgA deficiency (if severe, they can form IgE antibodies against IgA)

Question 17

What is Chediak-Higashi syndrome?

Answer 17

AR disorder of lysosomal trafficking that leads to partial pculocutaneous albinism and recurrent cutaneous infections (often Staph aureus and Strep pyogenes)

Question 18

How do seizure disorders affect decisions about vaccinations?

Answer 18

Children with a history of seizure disorder are at increased risk of having a seizure with the administration of the pertussis vaccine. It is suggested that the neurologic condition is stable and well-controlled prior to DTaP administration. However, uncontrolled seizure disorder is not an absolute contraindication and the decision for immunization must be made on a case-by-case basis.

Question 19

What are the recommendations for hep B vaccine administration in premature infants?

Answer 19

> 2000 g

Question 20

What is the defect in hyper IgM syndrome?

Answer 20

A defective CD40 ligand

Question 21

What is the defect in X-linked agammablobulinemia?

Answer 21

A defect in the Bruton tyrosine kinase (BTK) gene