High Yield Topics-Immunology Flashcards
What gene is defective in x-linked (Bruton) agammaglobulinemia?
BTK gene
- STUDY AID: “Bruton” Tyrosine Kinase
BTK gene defect in x-linked (Bruton) agammaglobulinemia causes failure of ____ cells to mature
B
What gene is defective in Ataxia-Telangiectasia?
ATM gene
*STUDY AID: Withdraw money from “ATM” to get “a TAXIa”
ATM gene defect in Ataxia-Telangiectasia causes accumulation of
mutations due to failure to detect DNA damage
Triad presentations of Ataxia-Telangiectasia
- Ataxia
- Telangiectasia
- IgA, IgG, IgE deficiency
Describe STUDY AID for Wiskott-Aldrich Syndrome
Wiskott-Al”DRINK” Syndrome
W: WAS gene mutation A: Antigen-presenting defect T: Thrombocytopenia E: Eczema R: Recurrent infections
Describe STUDY AID for Chediak-Higashi Syndrome
“Sir Chediak-Higashi recives a LYST of demands”
L: Lymphohistiocytosis M: Microtubule dysfunction N: Neurologic symptoms (neuropathy) O: PhagOlysosome formation defect P: Pancytopenia
What gene is defective in Chediak-Higashi Syndrome?
LYST gene
What skin findings can be seen in Chediak-Higashi Syndrome?
Albinism
What unique histological finding can be seen in Chediak-Higashi Syndrome?
Giant granules in granulocytes and platelets
Describe STUDY AID for Leukocyte Adhesion Deficiency
L: Late separation of umbilical cord
A: Absent pus
D: Dysfunctional neutrophils
What protein is defective on neutrophils/phagocytes in Leukocyte Adhesion Deficiency?
CD 18
(LFA-1) integrin
X-linked recessive type (most common) of SCID is caused by defective
IL-2R gamma chain
Autosomal recessive type of SCID is caused by deficiency of
adenosine deaminase
- adenosine accumulation is toxic to lymphocytes
Least common type of SCID is caused by mutation in
RAG gene –> VDJ recombination defect
