Immunodeficiency Flashcards by Perry Morocco

Q

T-B+ SCID AR

A

JAK3, IL7R

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Q

T-B+ SCID XL

A

IL2RG

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Q

T-B- SCID, NK+

A

RAG1/2 or Artemis (DCLRE1C)

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Q

T-B- SCID, NK-

A

ADA deficiency

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Q

Wiskott-Aldrich Syndrome mutation

A

WAS protein (WAS gene)

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Q

X-linked lymphoproliferative disease mutation

A

SAP gene; get fulminant acute mono from EBV

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