Immunodeficiencies Flashcards
High IgE
low IFN-y
low TNF-a
low CD8
esosinaphilia
hyper IgE (Job syndrome)
coarse facies
non inflamed staphylococcal abscesses
retained baby teeth
eczema
hyper IgE (job syndrome)
deficiency in Th17 cells due to STAT3 mutation leading to impaired neutrophil recruitment
hyper IgE (job syndrome)
normal T
normal NK
impaired IFN-y
IL-12 receptor beta 1 deficiency
disseminated salmonella and mycobacterial infections
disseminated BCG following innoculation
IL-12 receptor beta 1 deficiency
mutation of IL12RB1 gene prevents receptor expression
IL-12 receptor beta 1 deficiency
decreased TRECs
absent thymic shadow
absent germinal centers
absent T cells
SCID
failure to thrive
chronic diarrhea
recurrent infections
SCID
due to mutations in common gamma chain
SCID
elevated IgE
low IgA, IgG, and IgM
limited to no T and B cells
normal NK cells
omenn syndrome
erythroderma, desquamation, alopecia, chronic diarrhea, failure to thrive, lymphadenopathy, eosinophilia, hepatospenomegaly
omenn syndrome
RAG1 and RAG2 mutation
omenn syndrome
no B cells in peripheral blood
all Ig classes are reduced or abset
absent or scanty lymph nodes/tonsils
X linked (Bruton) agammaglobulinemia
recurrent bacterial infections after 6 months of age
X linked (Bruton) agammaglobulinemia
defect in BTK gene preventing maturation of B cells
X linked recessive
X linked (Bruton) agammaglobulinemia
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
IPEX
chronic life threatening diarrhea due to autoimmune enteropathy
neonatal type I diabetes
eczema
severe food allergies
IPEX
mutations in FOXP3 required for Treg development
IPEX
High IgM
low IgG, IgA, and IgE
hyper IgM syndrome
severe pyogenic infections early in life
opportunistic infections with pneumocystis, cryptosproridium, CMV
male
hyper IgM
most commonly due to defectivee CD40L on T helper cells leading to a class switching defect
X linked recessive
hyper IgM
low/normal IgG and IgM
high IgE
normal T and B cell levels as infant, but decline over time
WAS
thrombocytopenia with small platelets, eczema, recurrent infections
increased risk of autoimmune disorder
no response to pneumococcal vaccine
no isohemagluttins
WAS
mutation in WAS (x-linked recessive)
T cells unable to reorganize their cytoskeleton
WAS
normal flow cytometry
failure of isotype switching
lymphadenopathy
splenomegaly
female patient
AID deficiency
normal naive T cells are
CD45RA
materal t cells are
CD45RO
T-
B+
NK-
X linked SCID
OR
JAK3 deficiency
further genetic testing required
treatment: X linked SCID
bone marrow transplant
T-
B-
NK-
ADA deficiency SCID
accumulation of metabolites leading to apoptosis of thymocytes and circulating lymphocytes
ADA deficiency SCID
failure to thrive
recurrent diarrhea
skeletal abnormalities
ADA deficiency SCID
treatment: ADA deficiency SCID
bone marrow transplant (best option)
PEG-ADA replacement
downstream cytokine signaling issue, not a problem with TCR activation
JAK3 deficiency SCID
How to differentiate X linked SCID from JAK3 deficient SCID
functional STAT5 phosphorylation assay
if it phosphorylates, not JAK3
treatment: JAK3 deficient SCID
donor B cell engraftment
lifelong IvIg
T-
B+
NK+
IL-7 receptor alpha chain deficiency SCID
IL-7 receptor is specific only to
T cell development
treatment: IL-7 receptor alpha chain deficiency SCID
bone marrow stem cell transplant without B cells
T-
B-
NK+
RAG1/RAG2 SCID
leaky SCID
aka Omenn syndrome
RAG1/RAG2 deficient SCID treatment
bone marrow transplant
After abnormal TREC
- CBC w/ diff
- Flow cytometry
