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

18
Q

mutations in FOXP3 required for Treg development

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

21
Q

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

22
Q

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

23
Q

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

24
Q

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

25
normal flow cytometry failure of isotype switching lymphadenopathy splenomegaly female patient
AID deficiency
26
normal naive T cells are
CD45RA
27
materal t cells are
CD45RO
28
T- B+ NK-
X linked SCID OR JAK3 deficiency further genetic testing required
29
treatment: X linked SCID
bone marrow transplant
30
T- B- NK-
ADA deficiency SCID
31
accumulation of metabolites leading to apoptosis of thymocytes and circulating lymphocytes
ADA deficiency SCID
32
failure to thrive recurrent diarrhea skeletal abnormalities
ADA deficiency SCID
33
treatment: ADA deficiency SCID
bone marrow transplant (best option) PEG-ADA replacement
34
downstream cytokine signaling issue, not a problem with TCR activation
JAK3 deficiency SCID
35
How to differentiate X linked SCID from JAK3 deficient SCID
functional STAT5 phosphorylation assay if it phosphorylates, not JAK3
36
treatment: JAK3 deficient SCID
donor B cell engraftment lifelong IvIg
37
T- B+ NK+
IL-7 receptor alpha chain deficiency SCID
38
IL-7 receptor is specific only to
T cell development
39
treatment: IL-7 receptor alpha chain deficiency SCID
bone marrow stem cell transplant without B cells
40
T- B- NK+
RAG1/RAG2 SCID leaky SCID aka Omenn syndrome
41
RAG1/RAG2 deficient SCID treatment
bone marrow transplant
42
After abnormal TREC
1. CBC w/ diff 2. Flow cytometry