Immunodeficiency Flashcards
(49 cards)
What time do primary immunodeficiencies generally start appearing?
When mom’s IgG disappears
around months 5-13?
What two SCIDs are generally associated similarly? affecting VDJ recombination on the heavy chain?
What is unique to each?
What are key characteristics of both?
SCID
Low Igs, HSCT, A-R
only NK present
diarrhea, candidiasis, OB-PJ
Artemis: Radiosensitivity
- risk of Lymphomas
- VDJ recombination++++
- Double stand breaks++++++
RAG: pre TCR and BCR
-Leaky RAG= OMENN– severe erthroderma, SpMy, Eosinophilia, High IgE
If a patient presents with low ig’s but a high IgE, as well as SpMy and diarrhea, what does he have?
SCID
OMENN syndrome
severe RAG-leaky rag
X-Linked SCID is defined with what?
defective IL2R chain mut.
No T’s and functioning Bs
Males—Bubble boys
Adenosine Deaminase def.
SCID Low Ig's No TBNK's A-R HSCT -Accumulate toxic deoxyadenosine++++ -normally would be turned into doxyinosine
Which SCID has no Ig presence? And basically accumulates a toxic compound harmful to patients?
SCID
ADA def
–deoxyadenosine
Purine Nucleoside Phosphorylase PNP?
SCID Lacks T NK could be lacking or present no Ig change A-R HSCT dGTP accumulates -hemolytic anemia, thyroid dis, arthritis, lupus
All Ig’s are normal, Bcells are present, NK’s are sometimes there, SCID symptoms
-dGTP accumlation
SCID
PNP def.
JAK3 def
SCID Low Ig's Lacking T and NK Present Bcells A-R HSCT Defective IL-2 receptor
What do you have if IL-2 signaling is faulty? with SCID symptoms?
Can HSCT be a treatment?
Whats the TBN count?
SCID
Jak3 def.
Yes
No T or NK
What is Agammaglobulinemia?
Ab/Bcell Mat X-linked or some A-R BTyrKinase BTK mutation No Igs or very low No Abs-no Heavy chain rearrangement No Bcells
Disease in males with no Antibodies are being made?
BTK gene mutation
-No Bcells
Agammaglobulinemia- X-linked btk kinase def.
Isolated IgG def.
Ab/Bcell Mat -Some IgG low BTNK all present. -recurrent infections viral/bact -Poor polysaccharide response in children -Ig4 lacking many times
A child that isn’t responding well to polysaccharides has what?
All BTNK present
IgG def.
IgA def. (relatively high rate-1/700)
Ab/Bcell Mat
- Most individuals are healthy
- often males
- No IgA
- BTNK all normal
- IgM across membrane makes up for lack (assymptom)
- Recurrent inf (encapsulated bact), Autoimmune disease and allergy
-may have serum anti-IgA IgG- linked to development of non-IgE anaphylaxis in response to intravenous immunoglobulin transfusion
Patient has all BTNKs, (is a male), and got a blood transfusion that gave him major allergic response?
IgA def
DiGeorge Syndrome?
Ab/Bcell Mat No Tcell (or very low) Normal Igs Low set ears CATCH-22 Cardiac defects Abnormal facies Thymic hypoplasia ++++++(underdeveloped) Cleft palate Hypocalcemia 22q11 deletion
Patients with hypocalcemia, cardiac issues? and low set ears? Thymus issue?
DiGeorge Syndrome DGS
Hyper IgM syndrome HIGM?
Ab/Bcell Mat HSCT Impaired class switching (somatic hypermutation) -Low Cd27+ mem Bs -high IgM, Low G,A -Defective CD40L (M) X-link .66 -CD40 (both) .33 (Autosomal) All BTNK
Patient w/ persistent bact infection, but CD40 isn’t binding?
Hyper IgM
-defective CD40s
Transient Hypogammaglobulinemia of Infancy
Ab/Bcell Mat Low IgG/A All BTNK -Delay in intrinsic Ig production (IgG disappears maternal in 6mo) -IgM may be fine -Sinopulmonary infections
Common Variable ID CVID
Ab/Bcell Mat
HSCT
Low IgG/A..sometimes M
associated w/ hypogammaglobulinemia
-Group of disorders
-mutations in Bcell GFs or costimulators
-Bcells in circulation can be lowered but not always
-Recurrent pyogenic sinopulm infect…no plasma cell differentiation-no Abs
Usually diag at 20-30 years although onset is 4-5 yrs
20 year old patient w/ low IgG and A. Isn’t producing Abs, and gets sinus infections often?
CVID Common Variable
Bcell GFs or Co-stim mutations
Gamma chain def.
Tcells HSCT -Very low GAM -No T or NK....only B (but they are NOT functional) -XLINKED rec -Opportunistic infections -FTT, thrush, diarrhea -Most common SCID (45%) -IL-2Rgamma chain gene
