SCID Flashcards

1
Q

What is SCID characterized by?

A

Severe opportunistic infections such as candidiasis or jiroveci, chronic diarrhea and failure to thrive in infancy
Mostly autosomal inheritance

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2
Q

What is the right form of tx for all SCIDs?

A

HSCT

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3
Q

Which vaccines should be avoided for SCID diseases?

A

Live vaccines should be avoided

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4
Q

Which forms of SCID have B cells present?

A

PNP, deficiency of Jak3 and DiGeorge Syndrome

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5
Q

Which forms of SCID do NOT have B cells?

A

ADA, RAG1/2 and Artemis deficiency

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6
Q

What is purine nucleoside phosphorylase (PNP) deficiency?

A

T-B+NK+/-
Normal Ig levels
Accumulation of dGTP which is toxic and leads to a decrease in peripheral T cells but normal B cells
Common autoimmune disorders: hemolytic anemia, thyroid disease, arthritis and lupus

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7
Q

What is deficiency of Jak3?

A

T-B+NK-
IgM+, low everything else
Mutation in gene encoding for Jak3 leading to a defect in IL-2R signaling

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8
Q

What is DiGeorge syndrome?

A

T-B+NK+
Normal Ig levels
Deletion of 22q
Classic triad: cardiac anomalies, Hypocalcemia and hypoplastic thymus leading to T cell dysfunction

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9
Q

What is ADA deficiency?

A

T-B-NK-
Low/absent Ig levels
ADA converts adenosine -> inosine
Mutation leads to accumulation of deoxyadenosine (toxic to lymphocytes)

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10
Q

What is RAG1/2 deficiency?

A

T-B-NK+
Low/absent Ig levels
Impaired VDJ recombination leading to defective expression of pre-BCR and pre-TCR

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11
Q

What is Artemis decency?

A

T-B-NK+
Low/absent Ig levels
Rare from of SCID with radiosensitivity
Increased risk of developing lymphomas

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