OnlineMedEd: Pediatrics - "Immunodeficiency"

Question 1

Review the typical presentations of immunodeficiency disorders.

Answer 1

• Recurrent infections
• Severe infections
• Unusual infections
• Failure to thrive

Question 2

The first tests to order in a case of suspected immunodeficiency are ______________.

Answer 2

CBC and Ig levels (the rest of the tests are disease-specific)

Question 3

Review Bruton’s agammaglobulinemia.

Answer 3

• X-linked recessive (so only seen in boys)
• Recurrent sinopulmonary infections
• Presents after age six months (because of maternal antibodies)
• CBC normal
• No Ig
• Flow cytometry showing no B cells
• RTK (Bruton’s tyrosine kinase)
• Treated with scheduled Ig or (if that fails) BMT

Question 4

_____________ is like a mild form of Bruton’s.

Answer 4

CVID

It presents in teenagers with recurrent sinopulmonary infections.

Question 5

Review IgA deficiency.

Answer 5

• Caused by decreased production of IgA
• Presents one of two ways: (1) recurrent sinopulmonary infections and GI infections or (2) anaphylaxis after a transfusion
• CBC normal
• Ig levels show low IgA
• Treat by avoiding future pRBC transfusions

Question 6

Review hyper IgM syndrome.

Answer 6

• Caused by mutations in a protein that induces class-switching in plasma cells
• Recurrent infections (not sure which type)
• CBC normal
• Ig levels show low IgA and IgG, high levels of IgM

Question 7

Review DiGeorge syndrome.

Answer 7

• Caused by deletions in 22q11.2 that inhibits pharyngeal pouch development
• No thymus so no T cells
• Fungal infections
• Abnormal face (wide-set eyes and low ears)
• Absent thymic shadow
• CBC shows decreased absolute lymphocyte count
• Ig levels normal
• Treat with Bactrim prophylaxis, IVIG bridge, and thymic transplant
• Follow-up calcium levels

Question 8

Wiskott-Aldrich is treated with ______________.

Answer 8

BMT

Question 9

SCID will present with what lab signs?

Answer 9

• CBC: no WBCs

* Ig levels: no Ig

Question 10

How do you treat SCID?

Answer 10

• Isolate
• Bactrim prophylaxis
• BMT

Question 11

Those with chronic granulomatous disease cannot kill ______________.

Answer 11

catalase-positive organisms (hence the Staph abscesses)

Question 12

_____________ presents with an increased WBC.

Answer 12

Leukocyte adhesion deficiency (LAD)

Question 13

Treat CGD and LAD with ________________.

Answer 13

BMT

Question 14

C1 esterase deficiency is treated with _____________.

Answer 14

FFP

Question 15

_____________ presents with random, non-drug related angioedema.

Answer 15

C1 esterase deficiency