immunodeficiencies part II Flashcards
1
Q
suspected primary immunodeficiencies:
- recurrent sinopulmonary bacterial infections:
- reccurent viral and/or fungal infections:
- recurrent skin abscesses and/or fungal infections:
- bacteremia or meningitis with encapsulated bacteria:
A
- screen humoral immunity
- screen cellular immunity
- screen for phagocyte defect
- screen for complement deficiency
2
Q
hemopoietic stem cell transplant:
if issue is both related to a ____ in a cell derived from bone marrow and the symptoms are severe or lethal, then replacing teh bone marrow with the efective gene with healthy bone marrow is a cure
A
gene
3
Q
severe combined immunodeficiency disorders (SCID):
- function of both ____ and ____ cells are impacted, how this happens varies
- issues is either early in lymphocyte development, meaning ____ , ____ , and ____ cells are absent OR
- issue is later in ____ cell development so T cells are absent while others are present but still lacking T dependendt activities ( ____ and ____ class switching)
- typically assocaited with severe ____
- characterized by chronic ____ and failure to ____
- fetus with SCID is at risk for ____
A
- B and T
- T , B , and NK
- T, IgG and IgA
- lymphopenia
- diarrhea, thrive
- abortion
4
Q
general trends with SCID:
- typically normal at ____ and shows symptoms a few months later after maternal ____ depleted
- phenotype
- T cells always ____
- ____ , ____ , ____ will always be ____ (no TD activitation)
- hemopoietic stem cell transplant (HSCT) is ____ for these patients
- they can barely fight infections as it is so no ____ vaccines
A
- birth, IgG
- low/absent
- IgG, IgE, and IgA, low/absent
- low/absent
- curative
- live/weakened
5
Q
Adenosine Deasminase (ADA) Deficiency:
- lack of ADA → buildup of ____ → cell toxicity
- immune phenotype
- what cells are absent:
- B cells:
- mechanism
- adenosine build up blocks nucleotide metabolism and lymphocytes prilferate a lot so they need DNA
- adenosine deaminase converts toxic adenosine deaminase → ____ , which is not harmful
A
- deoxyadenosine
- T , B, and NK cells
- low/absent IgG, IgA, and IgM
- deoxyinosine
6
Q
artemis deficiency:
- artemis is an enzyme in VDJ recombination and serves to repair:
- immune phenotype:
- Abs absent:
- HSCT is ____ for these patients
- increased risk for developing ____
- special stuff:
A
- double stranded breaks
- T-, B-, NK+
- low/absent IgG, IgA, and IgM
- curative
- lymphomas
- radiosensitivity
7
Q
RAG1/RAG2 deficiency:
- what’s wrong:
- ____ recessive
- mechanism: RAG is only used in V(D)J recombination so only T and B cells will be affected becuase they cannot produce TCRs/BCRs
- immune phenotype:
- Abs absent:
- special stuff:
A
- lack of RAG1/RAG2
- autosomal
- T-, B-, NK+
- IgG, IgA, and IgM
- OMENN syndrome: partial function of RAG1/RAG2 leads to severe erythroderma, splenomegaly, eosinophilia, and HIGH IgE
8
Q
common gamma chain Deficiency (IL2-Ry/CD25):
- whats wrong:
- mechanism: is used in multiple cytokine receptors, including IL-2R and IL-15R. IL-2R signaling is needed for T cell activation and IL-15 is responsbiel for NK cell proliferation
- most ____ SCID (45% of all cases)
- ____ recessive
- immune phenotype:
- Abs:
A
- lack of common gamma chain
- common
- X-linked recessive (boys more common)
- T-, B+, NK-
- IgM+, IgG-, IgE-, IgA-
9
Q
jak3 deficiency:
- whats wrong:
- mechanism: Jak3 kinase associates with the cytoplasmic tail of the common chain and is responsible for creating the signal generated by the receptors
- causes defect in ____ signaling
- ____ recessive
- immune phenotype:
- Abs:
A
- lack of Jak3, a kinase
- IL-2
- autosomal
- T-, B+, NK-
- IgM+, IgG-, IgE-, IgA-
10
Q
IL-7Ra deficiency:
- whats wrong:
- mechanism: IL-7 stimulates differentiatio of lymphoid progenitors into T cells
- ____ recessive
- immune phenotype:
- Abs:
A
- lack of IL-7Ra
- autosomal
- T-, B+, NK+
- IgM+, IgG-, IgE-, IgA-
11
Q
CD3 deficiency:
- whats wrong:
- mechanism: CD3 is the signal transducer of the TCR complex, withotu TCR signaling T cells can’t receive survival signals
- ____ recessive
- immune phenotype:
- Abs:
A
- lack of a CD3 subunit
- autosomal
- T-, B+, NK+
- IgM+, IgG-, IgE-, IgA-
12
Q
what is common among all SCID
A
no live vaccines
treatment is HSCT
13
Q
which SCID is X-linked
A
common gamma chain
14
Q
B cell selective deficiences:
- B cells may be ____ or ____ with decreased function
- ____ and _____ cells are unaffected
- typical infections are ____ bacteria or abnomrally recurrent
A
- absent or present
- T and NK
- encapulated
15
Q
which selective B cell immunodeficiencies can be cured with HSCT
which selective B cell immunodeficiencies can be treated symptomatically
A
BTK agammaglobulinemia and Agammaglobulinemia
IgA, IgG subclass, hyper-IgM syundrome, transient hyper-IgM
