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GEN PEDS > ALLERGY & IMMUNOLOGY > Flashcards

ALLERGY & IMMUNOLOGY Flashcards

1
Q

Boot-shaped heart + absent thymic shadow + hypocalcemia in neonate

What is the heart condition? What is the underlying condition?

A

Booth-shaped heart = tetralogy of Fallot

Condition = DiGeorge syndrome (22q11.2 deletion)

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2
Q

When does X-linked agammaglobulinemia present?
What types of infections patient tend to get?

A

Presents late in the 1st year of life (after maternal IgG has been consumed)

Encapsulated bacterial infections of the respiratory tract
1 - Pneumonia
2 - Otitis media
3 - Sinusitis

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3
Q

Recurring skin infections, pneumonias, lymphadenitis

What is the condition? What is the diagnostic test to confirm?

A

Chronic granulomatous disease (CGD)

Dihydrorhodamine oxidation test (DHR test)

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4
Q

Small grey grape-like shape mass in nasal cavity

What is the mass? What is the most likely cause? First-line treatment for the mass?

A

Nasal polyp

Most common cause = allergic rhinitis

1st line treatment = nasal steroids

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4
Q

Small grey grape-like shape mass in nasal cavity

What is the mass? What is the most likely cause? First-line treatment for the mass?

A

Nasal polyp

Most common cause = allergic rhinitis

1st line treatment = nasal steroids

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5
Q

What is the infection that is potentially associated with DRESS syndrome?

A

HHV6 reactivation

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6
Q

Reddish-brown macules that wheal with gentle stroking of the skin + Hepatosplenomegaly and/or lymphadenopathy

What is the sign called? What is the condition? What are 2 tests that help confirm this diagnosis?

A

Darier sign

Mastocytosis

Tests: (1) serum tryptase; (2) bone marrow biopsy

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7
Q

Reddish-brown macules that wheal with gentle stroking of the skin. No systemic finding

What is the condition?

A

Urticaria pigmentosa

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8
Q

Delayed separation of the cord associated with omphalitis (inflammation around the cord) in an infant

What is the underlying diagnosis? What are 2 organisms these patients are particularly at risk?

A

Leukocyte adhesion deficiency type 1 (LAD1)

1 - Staph aureus
2 - E.coli

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9
Q

Recurring episodes of facial swelling, eyelid swelling, and abdominal pain / vomiting

What is going on? Which is the characteristic lab finding?

A

Recurring cutaneous & GI angiodema.

Decrease C4 levels

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10
Q

Deep abscess with Staph aureus + atopic picture (eczema etc.)

What is the underlying condition? What is the problem?

A

Hyper-IgE syndrome (Job syndrome)

Failure of neutrophils to adhere to endothelium and enter the tissues - causing secondary stimulation of IgE production from eosinophils that are recruited to the area

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11
Q

What is the most common immunodeficiency in children?

A

Selective IgA deficiency

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12
Q

Anaphylaxis to blood product despite no evidence of incompatibility

Which immunodeficiency that is responsible?

A

Selective IgA deficiency

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13
Q

Mechanism for anaphylaxis reaction to bee-sting venom

A

IgE-mediated reaction

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14
Q

Mechanism for anaphylaxis reaction to radiocontrast media

A

Mast-cell and basophils mediated

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15
Q

Mechanism for anaphylaxis reaction during dialysis

A

Complement activation

16
Q

Mechanism for serum sickness

A

Immune-complex deposition in organ tissues

17
Q

Mechanism for anaphylaxis against penicillin and other antibiotics

A

IgE recognition of protein-hapten conjugates

18
Q

Drug that is associated with linear IgA dermatosis, and treatment of choice

A

Vancomycin (should be discontinued)

Treatment = dapsone

19
Q

What are components of CHARGE syndrome?

A

1 - Coloboma
2 - Heart abnormalies (especially aortic arch defects)
3 - Atresia of choaenae
4 - Restricted growth and mental disability
5 - Genital hypoplasia
6 - Ear anomalies

20
Q

What is the syndrome that is commonly associated with CHARGE syndrome?

A

DiGeorge

21
Q

Classical triad of thrombocytopenia, eczema, and recurrent infections

What is the underlying syndrome? Underlying cause? Mode of inheritance

A

Wiskott-Aldrich syndrome (WAS)

Defect in platelet-leukocyte surface glycoprotein

X-linked recessive

22
Q

Prolonged diarrhea with Giardia infection
What is the immunodeficiency?

A

Selective IgA deficiency

23
Q

Which syndrome is at high risk for developing anaphylaxis to IVIG?

A

Selective IgA deficiency

24
Q

What are 4 autoimmune diseases associated with selective IgA deficiency

A

1 - Celiac disease
2 - Chronic autoimmune thyroiditis (Hashimoto)
3 - Diabetes type 1
4 - Inflammatory bowel disease

25
Q

Chronic pulmonary infections, unexplained bronchiectasis, recurrent Giardia, splenomegaly

What is the condition? What is the issue? What are typical lab tests? Treatment?

A

Common variable immunodeficiency (CVID)

B cells can recognize antigen and multiply but fail to differentiate to plasma cells -> panhypogammaglobulinemia

Treatment = monthly IVIG

26
Q

Sterile abscess, delayed separation of the umbilical cord

What is the condition

A

X-linked (Bruton) agammaglobulinemia

27
Q

Urticaria wheals that persist in the same areas for days after taking an antibiotic, also accompanied by joint pain

What is the condition? What are other associated exam findings ? (3)

A

Serum sickness-like reaction (SSLR)

1 - Fever
2 - Lymphadenopathy
3 - Facial edema

28
Q

Patient with lupus and recurring pyogenic infection

What is going on ?

A

C2 complement deficiency

29
Q

Fair skin, blonde hair, blue eyes, multiple oral aphthous lesion.

What is the condition? What is the unique lab finding?

A

Chediak-Higashi syndrome

Neutropenia with giant granules in the neutrophils, eosinophils, and granulocytes

30
Q

Streak of blood in stools of an infant, but normal growth, no other symptoms

What is going on?

A

Protein-induced proctitis

(no other sx, no growth issue, no malabsorptive diarrhea)

31
Q

Systemic symptoms (fever, headache etc.) + bad skin rashes + oral mucosa inflammation

What is going on?

A

Stevens-Johnson syndrome (SJS)

32
Q

Which classes of drugs are lead triggers of SJS ? (3)

A

1 - Bactrim
2 - Antiseizure meds (phenobarb, carbamazepine)
3 - NSAIDs

33
Q

Which infectious agents are lead triggers of SJS ? (4)

A

1 - HSV
2 - EBV
3 - Mycoplasma pneumoniae
4 - Hep B

34
Q

What is the latency of DRESS ? (length from exposure to onset)

A

2-6 weeks

35
Q

Large protruding ears, long limbs, malar rash with sun exposure

What is the condition? What is the type of immunodeficiency associated with this ?

A

Bloom syndrome

Decreased IgA, IgM, IgG

36
Q

Recurring stress-induced edema of lips and tongue - normal between episodes

What is the condition? What is the underlying cause?

A

Hereditary angiodema

C1-esterase inhibitor

37
Q

What is a characteristic lab finding in ataxia telangiectasia?

A

Elevated alpha-fetoprotein

38
Q

Low IgM, high IgA and IgE, normal IgG

What is the immunodeficiency?

A

Wiskott-Aldrich Syndrome

GEN PEDS (16 decks)

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