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A 17 year old boly has had recurrent episodes of angioedema without uritcaria. previous treatment with epinephrine and steroids has had little effect. What workup should be done next?

A: C1 inh level and function
B: Mannose-binding lectin level and function
C: C6 level
D: Skin testing to pollens

A: C1 inh level and function

This is hereditary angioedema.


A 15 year old girl is given a new medication for seizures. About two weeks after starting her medication, she began having urticaria, fever, arthralgia, and malaise. What category of hypersensitivity reaction does this fall into?

A: Type I
B: Type II
C: Type III
D: Type IV

C: Type III immune complex-mediated.

Serum sickness is mediated by deposition of immune complex.


A 5 year old boy with a history of a cardiac condition and a peanut allergy comes for well-child care. After eating a candy bar, he develops hives and throat tightness. His mom informs you he is taking carvedilol and digoxin.

What is the most appropriate next step?

A: Discontinue carvedilol
B: Give him diphenhydramine
C: Intramuscular epinephrine
D: Intramuscular glucagon

C: Intramuscular epinephrine

Epi is always first-line choice in anaphylactic reactions.


Two weeks ago a 16 year old boy came to his physician with cough, sore throat, runny nose. On physical exam he had fever of 101.1 F, mild pharyngeal erythema, and small lymph nodes bilaterally on his neck.

His physician prescribed amoxicillin for 2 weeks. After seven days, the patient develops a morbilliform rash.

What should be done next?

A: Reassurance
B: Tell him he is allergic to amoxicillin and should avoid it in the future.
C: Tell him he is allergic to all penicillin family drugs and to avoid them in the future.
D: Tell him he is allergic to penicillins and to also avoid cephalosporins due to cross-reactivity.

A: Reassurance

This likely a rash related to viral illness. He probably had EBV.


A 2 year old boy presents with a history of recurrent abdominal pain, vomiting, flushing, and generalized red-brownish macules. He has also had several hospitalizations for anaphylaxis. Which of the following tests would you do next?

A: Skin testing
B: Tryptase level
C: C1 inh function
D: IgE Level

B: Tryptase level

He most likely has mastocytosis. His rash is urticaria pigmentosa.


A 5 year old boy with spina bifida has had multiple urogenital tract surgeries and has subsequently developed a latex allergy. Which of the following food allergy might he develop due to cross-reactivity?

A: Peach
B: Pear
C: Potato
D: Carrot

C: Potato.

Other cross-reactivities include avacado, banana, tomato, papaya.


A 4 month old baby girl is seen in office for the first time. The umbilical cord is still attached. On exam you notice she also has severe gingivitis and several abscesses on the gluteal area. What test would most likely yield the diagnosis?

A: Dihydrorhodamine test
B: Nitroblue tetrazolium test
C: Flow cytometry for CD40
D: Flow cytometry for CD18

D: Flow cytometry for CD18. This is LAD type 1.

A and B are both for chronic granulomatous disease. The dihydrorhodamine test is a replacement for nitroblue tetrazolium test which is no longer performed. CD40 is useful in hyper-IgM syndrome.


An 18 month old boy was diagnosed with severe EBV hepatitis 4 months ago. The boy returns 4 months later with fever, diffuse lymphadenopathy, weight loss, fatigue, and malaise. What is the most likely diagnosis?

A: Ataxia-telangiectasia
B: X-linked lymphoproliferative syndrome
C: Wiskott-Aldrich syndrome
D: Autoimmune lymphoproliferative syndrome

B: X-linked lymphoproliferative syndrome (Duncan syndrome)

These patients are susceptible to EBV and get bad hepatitis and bone marrow failure. The survivors almost always develop lymphomas.

D: Autoimmune lymphofroliferative syndrome is called ALPS. They develop large lymph nodes but not associated with hepatitis or malignancy.


A 15 month old baby boy with eczema, thrombocytopenia, and recurrent infections is seen by you for his routine well-child care. What vaccinations would be most appropriate at this time.?

B: Varicella
C: Live intranasal influenza

D: DTaP. It's the only one that isn't live.

This child has Wiscott-Aldrich.


A 3 year old boy presents with urinary retention. He has a history of recurrent skin and organ abscesses that grow out Burkholderia species. Which test would likely yield the most likely diangosis?

A: Flow cytometry for CD 18
D: Dihydrorhodamine test
C: Peripheral smear showing giant granules
D: Genetic analysis showing STAT 3 mutation

B: Dihydrorhodamine test.

This child has chronic granulomatous disease. Burkholderia is associated. (Also associated with CF.)

CD18 is for LAD.
Giant granules is associated with Chediak-Higashi.
○ Impaired lysosome degranulation
○ AR
○ Recurrent skin and sinpulonary infections
○ Partial oculocutaneous albinisim due to melanin and defective granules.
○ MR
○ Progressive peripheral neuropathy
○ Peripheral smear shows GIANT GRANULES
○ Treatment: BMT but they all develop the neuropathy

STAT3 is the mutation in Job syndrome (Hyper IgE)


A 10 month old infant is seen by you for evaluation of neutropenia. Her ANC is 400 today. Three weeks later it's 2000. She has had a history of Pseudomonas sepsis. At the time of her infection her ANC was 400. What is the most likely diagnosis?

A: Kostmann syndrome
B: Cyclic neutropenia
C: Severe chronic neutropenia

B: Cyclick neutropenia.

Kostmann is a congenital neutropenia.
○ AR
○ HAX1
○ A form of severe congenital neutropenia (type 3)
Seizures, LD, dev delay

In severe chronic neutropenia, the ANC is always low.


A 16 year old girl presents with hives for the past 4 months. She complains of joint pain and general malaise that are not associated with heat or cold exposure. On physical exam there are erythematous wheals on the extremities and abdomen with areas of hyperpigmentation and ecchymosis.

What is the most likely diagnosis:

A: Chronic idiopathic urticaria
B: Hereditary angioedema/urticaria
C: Urticarial vasculitis
D: Familial cold urticaria

C: Urticarial vasculitis.

Red flags are hives lasting a long time, color change, and other inflammatory symptoms.


A 14 year old boy with asthma reports cough for three days per week for which he uses albuterol with relief. He has 3 night time awakenings per month because of difficulty breathing. He is currently on a low-dose inhaled steroid and reports adherence with his medications. What is the most appropriate next step?

A: Recommend continuing on low-dose inhaled corticosteroid.
B: Discontinue low-dose inhaled corticosteroid and use albuterol as needed.
C: Change to medium-dose inhaled corticosteroid.
D: Add a leukotriene receptor antagonist and continue the inhaled steroid.

C: Change to medium-dose inhaled corticosteroid.


A 4 year old developmentally delayed girl with silvery hair and hypopigmentation of the skin presents with frequent respiratory tract infections. What findings on a routine blood smear would be consistent with the diagnosis?

A: Small platelets
B: Giant granules.
C: Absence of color change with nitroblue tetrazolium dye
D: Pronounced leukocytosis (WBC > 50K)

B: Giant granules.

This is Chediak-Higashi. Melanin granules are also not delivered correctly.


A newborn comes to your office for a well-baby visit. The parents are concerned because of a strong family history of atopic disease. They would like to know how they can prevent the development of allergies in their newborn. According to the 2008 AAP guidelines, which of the following would you recommend?

A: Parents should delay introduction of highly-allergenic foods until after 12 months of age.
B: The parents should exclusively breastfeed the infant until at least 4 months of age.
C: The infant should be fed a soy-based infant formula to decrease the risk of cow milk protein allergy.
D: Whether the infant develops atopic disease depends on what the mother ate during her pregnancy, so it is too late.

B: Breast feed until at least 4 months.


A T cell interacts with MHC I and is active against a virus infected cell. Is this a CD4 or CD8 T cell?

CD 8. These recognize virus infected and neoplastic cells.


Describe how NK cells recognize a cell to be killed. How is this different from NK-T cells?

NK cells are always in kill mode and are only inhibited by the presence of MHC I (self antigen). This is how they recognized virus infected cells where the virus has caused down regulation of MHC I.

NK-T cells still require antigen to be presented to them. NK cells do not.


For each patient described, what cell line is likely deficient?

1) susceptible to severe and early EBV infection
2) mycobacterium and herpes virus infections
3) recurrent giardia infection.
4) recurrent skin and organ abscesses

1) T cell
2) toll like receptor defects
3) B cell
4) phagocyte disorder


An infant presents with FTT and recurrent infections at 3 months of life and has had an episode of sepsis already. WBC today is 5234. What can be said about this finding? Normal or abnormal?

Probably low for age. Infants with SCID are almost always leukopenic when you use the proper cut offs for age.


An newborn presents with prolonged bleeding from circumcision and 2 months later had developed extensive eczema. What condition should you think of?



Is IVIg therapy helpful in wiskott-Aldrich?

Yes because although ab count may not be low, there is usually little ab response to immunization.


What disorder are infants at risk for if they have complete diGeorge and have received nonirradiated blood products?

Graft versus host disease


For X-linked agammaglobulinemia, are immune globulin caring B cells prominent in the peripheral circulation?

No, they are practically absent. Be so precursors are in the bone marrow but their development is in an arrested state.


What mutation is responsible for x-linked gammaglobulinemia?

BTK (Xq22)


Which type of infections is a child with X-linked agammaglobulinemia at risk for?

Encapsulated organisms
Recurrent Sino pulmonary infections
Meningitis, sepsis, osteomyelitis


What is characteristic about the lymph nodes in tonsils in patients with X linked agammaglobulinemia?

They are hypoplastic.


What is a treatment that reduces the frequency of recurrent infections in X-linked agammaglobulinemia?

IV IG infusion


What would a biopsy of an enlarged spleen or liver commonly show in a patient with CVID?

Noncaseating granulomas


You are working up a patient with recurrent Sino pulmonary infections and a chronic diarrhea causing malabsorption. What illness do you suspect?

CVID which can feature a sprue like component


Which unusual pneumonia are children with hyper-IgM at risk for?