Leukocyte disorders Flashcards

1
Q

Child with paroxysmal cough and lymphocytosis

A

Pertussis

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2
Q

Child with atypical lymphocytes and splenomegaly

A

Mono

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3
Q

Child with allergies, eczema, and low platelets

A

WAS

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4
Q

Weeks old infant with severely low ANC

A

Isoimmune Neonatal Neutropenia

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5
Q

Child with mouth ulcers and waxing and waning symptoms

A

Cyclic neutropenia - elastase gene, autosomal dominant

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6
Q

Infant with skin lesions, ear infections, and low ANC

A

Sevre congenital neutropenia - treat with GCSF and antibiotics

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7
Q

Patient with growth failure and fat malabsorption

A

Shwachmann Diamond

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8
Q

Child with low ANC after viral infection

A

Benign neutropenia

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9
Q

Child with ALL gets a fever and low ANC

A

Fever and neutropenia syndrome

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10
Q

Patient with pancytopenia and symptoms consistent with a syndrome

A

HLH - widespread macrophage activation

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11
Q

Patient with bone marrow hypoplasia, increased MCV, and skeletal anomalies

A

Fanconi Anemia (inherited aplastic anemia; DNA repair defect)

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12
Q

Gray haired / light skinned patient

A

Chediak Higashi

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13
Q

Child with high WBC count, prolonged umbilical separation, and recurrent infections

A

Leukocyte Adhesion Deficiency - qualitative defect

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14
Q

Child with lymphadenitis, skin lesions, bladder problems

A

CGD - chronic granulomatous disease (can’t generate oxidative burst)

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15
Q

Child with recurrent sinopulmonary infections without IgA in serum

A

Selective IgA deficiency - autosomal dominant - high risk of autoimmune diseases

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16
Q

Infant with recurrent infections without any antibodies

A

X linked Agammaglobulinemia - pts. receive IVIG

17
Q

Patient with abnormal face, seizures, heart defects

A

DiGeorge syndrome - 3rd and 4th pharyngeal pouches = 22q11

18
Q

Infant with failure to thrive, chronic diarrhea, recurrent infections

A

SCID