Clinical Conference Immunodeficiencies

Question 1

What is the most common type of primary immunodeficiency disease?

Answer 1

Antibody defects (about 50 percent)

Question 2

What does the term combined in SCID refer to?

Answer 2

A deficiency in both the cellular and humoral immune systems (both B and T cell problems)

Question 3

Common variable immunodeficiency

Answer 3

Failure of B cells to progress to the plasma cell stage, affects all Ig isotypes (no antibody produced, but normal numbers of B and T cells found)

Question 4

What type of infections occur in diseases of antibody deficiencies?

Answer 4

Lung and sinus infections with high grade (encapsulated) bacterial organisms

Question 5

What types of infections occur with diseases of combined immunodeficiencies?

Answer 5

Infections with opportunistic organsisms

Question 6

What type of infections occur with phagocytic cell deficiencies?

Answer 6

Skin infections as well as internal organ infections, mainly low grade but virulent pathogens

Question 7

What autoimmune disease do patients with selective IgA deficiency tend to get?

Answer 7

Rheumatoid arthritis (reason not known)

Question 8

Transient Hypogammaglobulinemia of Infancy

Answer 8

Delayed maturation of humoral immunity (presence of maternal antibody in infant fades as is typical, but infant production of Ab is slow to start), fairly common

Question 9

What is the prevalence of selective IgA deficiency in the general population?

Answer 9

1 in 500

Question 10

What should not be administered to a patient suspected of being immunodeficient?

Answer 10

Live virus or attenuated vaccine

Question 11

Is failure to thrive a characteristic of SCID or Common Variable Immunodeficiency?

Answer 11

SCID

Question 12

What is the most common genetic deletion in humans and what syndrome goes with this?

Answer 12

22q11.2. Causes DiGeorge syndrome (thymic hypoplasia) |LN

Question 13

Pneumonic for DiGeorge symptoms

Answer 13

CATCH. Cardiac anomalies, Abnormal facies (facial expressions), Thymic hypoplasia, Cleft palate, Hypocalcemia

Question 14

What is a particularly odd finding of leukocyte adhesion disorders and what causes it?

Answer 14

Failure of the umbilical cord to separate. Neutrophils help lyse the cord remnants from the newborns umbilical region and they require proper adhesion molecules to get there and do this

Question 15

What is the treatment for chronic granulomatous disease?

Answer 15

Interferon Gamma