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IBI Test I > Immunodeficiencies > Flashcards

Immunodeficiencies Flashcards

1
Q

High IgE
low IFN-y
low TNF-a
low CD8
esosinaphilia

A

hyper IgE (Job syndrome)

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2
Q

coarse facies
non inflamed staphylococcal abscesses
retained baby teeth
eczema

A

hyper IgE (job syndrome)

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3
Q

deficiency in Th17 cells due to STAT3 mutation leading to impaired neutrophil recruitment

A

hyper IgE (job syndrome)

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4
Q

normal T
normal NK
impaired IFN-y

A

IL-12 receptor beta 1 deficiency

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5
Q

disseminated salmonella and mycobacterial infections
disseminated BCG following innoculation

A

IL-12 receptor beta 1 deficiency

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6
Q

mutation of IL12RB1 gene prevents receptor expression

A

IL-12 receptor beta 1 deficiency

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7
Q

decreased TRECs
absent thymic shadow
absent germinal centers
absent T cells

A

SCID

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8
Q

failure to thrive
chronic diarrhea
recurrent infections

A

SCID

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9
Q

due to mutations in common gamma chain

A

SCID

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10
Q

elevated IgE
low IgA, IgG, and IgM
limited to no T and B cells
normal NK cells

A

omenn syndrome

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11
Q

erythroderma, desquamation, alopecia, chronic diarrhea, failure to thrive, lymphadenopathy, eosinophilia, hepatospenomegaly

A

omenn syndrome

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12
Q

RAG1 and RAG2 mutation

A

omenn syndrome

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13
Q

no B cells in peripheral blood
all Ig classes are reduced or abset
absent or scanty lymph nodes/tonsils

A

X linked (Bruton) agammaglobulinemia

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14
Q

recurrent bacterial infections after 6 months of age

A

X linked (Bruton) agammaglobulinemia

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15
Q

defect in BTK gene preventing maturation of B cells
X linked recessive

A

X linked (Bruton) agammaglobulinemia

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16
Q

normal T and B cell numbers
normal response to mitogen and antigen stimulation
Th2 skewing
High IgE, high IgA
normal IgM and IgG
elevated glucose

A

IPEX

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17
Q

chronic life threatening diarrhea due to autoimmune enteropathy
neonatal type I diabetes
eczema
severe food allergies

A

IPEX

18
Q

mutations in FOXP3 required for Treg development

A

IPEX

19
Q

High IgM
low IgG, IgA, and IgE

A

hyper IgM syndrome

20
Q

severe pyogenic infections early in life
opportunistic infections with pneumocystis, cryptosproridium, CMV
male

A

hyper IgM

21
Q

most commonly due to defectivee CD40L on T helper cells leading to a class switching defect
X linked recessive

A

hyper IgM

22
Q

low/normal IgG and IgM
high IgE
normal T and B cell levels as infant, but decline over time

A

WAS

23
Q

thrombocytopenia with small platelets, eczema, recurrent infections
increased risk of autoimmune disorder
no response to pneumococcal vaccine
no isohemagluttins

A

WAS

24
Q

mutation in WAS (x-linked recessive)
T cells unable to reorganize their cytoskeleton

A

WAS

25
Q

normal flow cytometry
failure of isotype switching
lymphadenopathy
splenomegaly
female patient

A

AID deficiency

26
Q

normal naive T cells are

A

CD45RA

27
Q

materal t cells are

A

CD45RO

28
Q

T-
B+
NK-

A

X linked SCID
OR
JAK3 deficiency

further genetic testing required

29
Q

treatment: X linked SCID

A

bone marrow transplant

30
Q

T-
B-
NK-

A

ADA deficiency SCID

31
Q

accumulation of metabolites leading to apoptosis of thymocytes and circulating lymphocytes

A

ADA deficiency SCID

32
Q

failure to thrive
recurrent diarrhea
skeletal abnormalities

A

ADA deficiency SCID

33
Q

treatment: ADA deficiency SCID

A

bone marrow transplant (best option)

PEG-ADA replacement

34
Q

downstream cytokine signaling issue, not a problem with TCR activation

A

JAK3 deficiency SCID

35
Q

How to differentiate X linked SCID from JAK3 deficient SCID

A

functional STAT5 phosphorylation assay

if it phosphorylates, not JAK3

36
Q

treatment: JAK3 deficient SCID

A

donor B cell engraftment
lifelong IvIg

37
Q

T-
B+
NK+

A

IL-7 receptor alpha chain deficiency SCID

38
Q

IL-7 receptor is specific only to

A

T cell development

39
Q

treatment: IL-7 receptor alpha chain deficiency SCID

A

bone marrow stem cell transplant without B cells

40
Q

T-
B-
NK+

A

RAG1/RAG2 SCID
leaky SCID

aka Omenn syndrome

41
Q

RAG1/RAG2 deficient SCID treatment

A

bone marrow transplant

42
Q

After abnormal TREC

A
  1. CBC w/ diff
  2. Flow cytometry

IBI Test I (18 decks)

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