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Immunodeficiency disorders
Immunology
32
Immunology
Professional
12/15/2011

Additional Immunology Flashcards

 


 

Cards

Term
Name examples of immunodeficiencies associated with the TLR pathway.
Definition

NEMO - ectodermal dysplasia, mycobacteria, pyogenic bacteria

MyD88 mutation - mycobacteria, pyogenic bacteria

IRAK4 mutation - pyogenic bacteria (strep pneumoniae)

Unc93B or TLR 3 mutation - HSV encephalopathy

TLR 4 - N. Meningitidis sepsis

Term
What is the defect in LAD type 1 and LAD type 2?
Definition

Defect in CD18 (part of integrin LFA-1 and MAC-1/CR3 and CR4 which also involves complement)

Defect in FUC1 gene required for synthesis of sialyl Lewis X on P and E selectin ligands

Term
What is the surface marker used to diagnose DiGeorge syndrome?
Definition
CD45RA (present on naive T cell but not on effector or memory T cells)
Term
What mutation is associated with X-linked lymphoproliferative syndrome?
Definition
SAP (slam associated protein) mutation
Term

Which interleukins are associated with common gamma chain family?

What immunodeficiency is associated with mutation in common gamma chain IL2R?

Definition

IL-2, 4, 7, 9, 15 and 21

X-linked SCID (most common form of SCID)

Term
Name two mutations for CGD.
Definition

gp91-phox (X-linked, 70%)

p47, p22, p67-phox (AR)

Term
What is associated with bare lymphocyte syndrome?
Definition

Defect in MHC class I expression - mutation in TAP (AR, CD8 lymphopenia)

 

Defect in MHC class II expression - mutation in CIITA (class II transcription activator), MHC2TA, RFX5, FRXAP, FRXANK (AR, CD4 lymphopenia)

Term
What mutation is associated with autoimmune polyglandular syndrome (APS)?
Definition
Mutation in AIRE (autoimmune regulatory gene)
Term
What mutation is associated with autoimmune lymphoproliferative syndrome (ALPS)?
Definition
Mutation in Fas (CD95) or FasL
Term

What deficiency results in AR SCID?

What about SCID with no CD8 cells or T lymphocyte function but normal B lymphocytes and NK cells?

Severe form of SCID?
Definition

Jak3 and CD45 deficiency

ZAP-70 mutation

CD3
Term

What gene mutation leads to X-linked agammaglobulinemia?

What about autosomal agammaglobulinemia (in girls)?

Definition

btk (bruton's tyrosine kinase) gene mutation - cessation at pre-B cell stage

mu heavy chain gene mutation on Ig molecule, BLNK, lambda 5, Ig-alpha

Term

What mutation is associated with X-linked hyper IgM syndrome?

What deficiency is associated with AR hyper IgM syndrome involving class switching with lymphadenopathy?

What other deficiency is associated wtih AR hyper IgM syndrome which has normal class switching?

 

Definition

CD40 ligand (on helper T cells) mutation (does not have lymphadenopathy), NEMO

AID and UNG mutations

CD40 (on B cells) deficiency

Term
Name the chemokine receptor associated with WHIM (warts, hypogammaglobulinemia, Infections and myelokathexis) syndrome.
Definition
CXCR4
Term
Which infections are most commonly found in IFN-gamma deficiency?
Definition
Mycobacteria and Salmonella
Term
What is the gene defect in neutrophil-specific granule deficiency?
Definition
C/EBP epsilon gene
Term
What is the mutation in Chediak-Higashi Syndrome?
Definition
LYST (lysosomal trafficking regulator) gene
Term
What is the mutation in hyperIgE syndrome and which effector T cell subset is affected?
Definition

STAT3 (AD)

defective Th17 response

Term
What mutation leads to selective IgA deficiency?
Definition
TACI (transmembrane activator and calcium-modulator and cyclophilin-ligand interactor)
Term
What mutation leads to CVID?
Definition
ICOS, TACI
Term
What is the defect in hereditary angioedema?

What does this protein inhibit?
Definition
C1 inhibitor

Inhibits C1r and C1s as well as MASP1 and MASP2
Term
What is the defect in immune dysregulation, polyendocrinopathy, enteropathy X-linked syndrome (IPEX)?
Definition
Mutation in FoxP3 causing deficiency in regulatory T cells
Term
Which are associated with these different types of SCID...
T-B+NK-
T-B+NK+
T-B-NK-
T-B-NK+
Definition
T-B+NK- common gamma chain, JAK3
T-B+NK+ IL-7Ralpha,CD3, CD45
T-B-NK- ADA, PNP, Reticular dysgenesis
T-B-NK+ RAG, ARTEMIS, Ligase IV, Omenn's
Term
What is associated with normal B cells, normal Ig levels but no vaccine response?
Definition
Selective Ig deficiency
Term
What is associated with normal B cells, low Ig levels but normal vaccine response?
Definition
Transient hypogammaglobulinemia of infancy or secondary cause
Term
What is associated with normal B cells, low Ig levels and no vaccine response?
Definition
IgA deficiency, CVID and hyper-IgM
Term
Mutations in IL-12Rbeta1 lead to susceptibility to which infections?
Definition
Salmonella and atypical mycobacteria
Term
What chemokines are associated with HIV?
What complement receptors?
Definition
CCR5 (no progression or slow progression of disease) and CCL3L1 (if low then worse disease)
CR1,2 and 3
Term
What is the defect in cyclic neutropenia?
Kostmann syndrome (severe congenital neutropenia)?
Definition
ELA2 gene coding for elastase
ELA2 and HAX1 genes
Term
What is the defect in shwachman-diamond syndrome?
Definition
SBDS gene encoding for ribosome production and RNA processing
Term
What is the defect in specific granule deficiency?
Definition
CEBP epsilon gene encoding myeloid transcription factor
Term
What is the defect in wiskott-Aldrich syndrome?
Definition
WASP
Term
What autosomal dominant disease which causes adhesion problems and impairs chemotaxis?
Definition
Ras-related C3 botulinum toxin subjectn2 (RAC2) deficiency
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