Allergy and Immunology

Question 1

What immunodeficiency is associated with an increased risk of anaphylaxis to whole blood transfusions?

Answer 1

Selective IgA deficiency; body has such low IgA levels that it develops antibodies to IgA when exposed to it in whole blood; minimize risk of anaphylaxis by transfusing washed blood.

Question 2

Name the disorder. Telangiectasias, photosensitivity leading to malar rash, increased risk of cancers, long narrow face with protruding ears, long limbs.

Answer 2

Bloom syndrome AKA congenital telangiectatic erythema– impairment in DNA helicase activity leads to breaks in DNA

Question 3

Diagnosis: infant with blood streaked stools after MOP switched from breast-feeding to cow’s milk protein formula feeding; otherwise asymptomatic and gaining weight well

Answer 3

Protein-induced proctitis

Question 4

Diagnosis: infant with severe vomiting, diarrhea, blood streaked stools, bloated abdomen, several hours after trying new food/formula

Answer 4

Food protein-induces enterocolitis syndrome (FPIES)

Question 5

SLE is associated with which complement deficiency?

Answer 5

C2 complement deficiency

Question 6

Which disease is associated with terminal complement deficiency and properdin deficiency?

Answer 6

Meningococcal disease (both meningitidis and gonorrhea)-- think of C5-C9
Properdin is a protein that is part of the complement cascade.

Question 7

What does DRESS syndrome stand for?

Answer 7

Drug Rash with Eosinophilia and Systemic Symptoms
Associated with anti-seizure medications (phenobarbital, carbamazepine, phenytoin)
Up to 2-8 weeks after drug exposure.
Fevers, facial edema, dusky erythematous papules that can progress to vesicles and bullous lesions
SPARES THE MUCOSAL surfaces

Question 8

How can you distinguish DRESS from SJS/TEN?

Answer 8

DRESS spares mucosal surfaces

SJS/TEN- usually has hemorrhagic mucositis

Question 9

Treatment of DRESS syndrome?

Answer 9

2mg/kg/day steroids, tapered over weeks

Stop offending agent

Question 10

Mode of inheritance and characteristics of Wiskott-Aldrich Syndrome, including Igs trends?

Answer 10

X-linked disorder-
Think of a “wise ostrich” wearing a TIE- Thrombocytopenia (or also small platelets), recurrent Infections, and Eczema
Low IgM, high IgA (upside M is a W–opposite so low IgM, A in Aldrich same–high IgA)

Question 11

Name the disorder and preferred treatment:

Can be seen several weeks after exposure to a drug, rash that erupts in the form of a ring of tense blisters (looks somewhat target like)
Preference for lower abdomen/genital area, string of pearl blisters on trunk
Linear IgA deposition at the dermal-epidermal junction.

Answer 11

Linear IgA bullous dermatosis; treatment is DAPSONE (FDA approved).

Question 12

Darier sign

Answer 12

Formation of urticaria or a wheal when you rub a lesion on the skin (lesion contains mast cells that degranulate)

Question 13

True or False. It is contraindicated to give the influenza vaccine to a patient with a history of significant egg allergy (anaphylaxis).

Answer 13

FALSE. No contraindication per 2018-2019 Influenza guidelines to give influenza vaccine for anyone with any degree of severity of allergic reaction to eggs.

Question 14

What factor poses a child at high risk for asthma?

Answer 14

Parent with asthma.

Question 15

True or False. Radio-contrast reactions are associated with shellfish or iodine allergies.

Answer 15

False.

Question 16

Serum sickness reaction can commonly occur in response to which drugs?

Answer 16

Cefaclor, Amoxicillin, Snake Anti-venom

Question 17

Serum sickness reaction findings

Answer 17

Fever, lymphadenopathy, arthralgia, arthritis, nephritis, rash

Question 18

Name the disorder: cold and deep abscesses without surrounding erythema due to impaired neutrophil chemotaxis (cannot adhere to the endothelium and go out into the tissues), significant eczema; delayed shedding of primary teeth

Answer 18

Hyper IgE Syndrome, significant eczema due to extrusion of eosinophils into tissues and over production of IgEs

Question 19

How is SCID screened for on the newborn screen?

Answer 19

T-cell Receptor Excision Circles– surrogate measure for naive T-cells; junk DNA that is excised in a circular fashion. Low TRECs, low number of lymphocytes. Confirm by flow cytometry.

Question 20

Those with selective IgA deficiency are at increased risk of gastroenteritis related to which organism?

Answer 20

Giardia

Question 21

DRESS is thought to be associated with the reactivation of which virus?

Answer 21

HHV-6

Question 22

Diagnostic criteria for selective IgA deficiency?

Answer 22

IgA <7 with otherwise normal serum IgG and IgM in children >4 years old

Question 23

Which live-attenuated vaccine has increased risk of transmission to immunocompromised household members and should therefore be avoided?

Answer 23

Oral polio vaccine (not very common in the USA, but still seen around the world)

Question 24

Disorder with recurrent sinopulmonary infections, bronchiectasis, pneumatoceles, empyemas, and cold/deep abscesses.

Answer 24

Hyper IgE syndrome AKA Job syndrome

Question 25

Name the disorder:

• Light skin, silver hair, prominent scarring over previous infections, photophobia, oculocutaneous albinism
• Large lysosomal granules in neutrophils

Answer 25

Chediak-Higashi syndrome; problems with lysosomal degranulation and so infective bactericidal activity

Question 26

Chediak-Higashi is associated with which hematologic issue?

Answer 26

Prolonged bleeding time due to faulty platelet aggregation

Question 27

Treatment for Chediak-Higashi

Answer 27

Bone Marrow Transplant

Question 28

CHARGE syndrome has a strong association with which immunologic disorder?

Answer 28

Complete DiGeorge phenotype (thymic aplasia)– up to 1/3 with thymic aplasia can have CHARGE syndrome

Question 29

What does CHARGE syndrome stand for?

Answer 29

Coloboma
Heart defects
Atresia of choanae 
Retarded growth or mental abilities
Genital hypoplasia in males 
Ear abnormalities

Question 30

Delayed umbilical cord falling, appears black but not purulent–what disorder is this associated with? What is a classic finding on CBC?

Answer 30

Leukocyte Adhesion Deficiency– leukocytes are not able to adhere to the endothelium and move out to the endothelium; may see significant leukocytosis

Question 31

Urticaria that forms over flea or mosquito bites, biopsy shows eosinophilic infiltration?

Answer 31

Papular urticaria

Question 32

What is the pathophysiology of Common Variable Immunodeficiency?

Answer 32

B-cells recognize pathogens and multiply but fail to differentiate into plasma cells–> panhypogammaglobulinemia

Question 33

Common Variable Immunodeficiency vs Bruton’s agammaglobulinemia differences?

Answer 33

CVID- cannot form plasma cells, but otherwise phenotypically normal B-cells detected on flow cytometry; sporadic; also see bronchiectasis and nodular lymphoid hyperplasia

XLA (Bruton’s)- no mature B-cells, so absent B-cells on flow cytometry, no lymphoid tissue, X-linked inheritance, usually susceptible to encapsulated organism infection

Question 34

Chronic Granulomatous Disease diagnostic test?

Answer 34

Nitroblue Tetrazolium or Dihydrorhodamine

Question 35

Chronic Granulomatous Disease inheritance?

Answer 35

X-linked recessive

Question 36

Which two immunodeficiencies are associated with PCP PNA?

Answer 36

SCID and Hyper IgM Syndrome