Congenital Primary Immunodeficiencies Flashcards
1
Q
Name all the B-lymphocyte deficiencies.
A
- Bruton agammaglobulinemia
- Hyper-IgM syndrome
- Selective Ig deficiency
- Common variable immunodeficiency
2
Q
Bruton agammaglobulinemia.
- What is affected, what is not?
- Clinical presentation?
- X-linked has mutation in what gene, causes what?
- Tx?
A
- Decrease in all classes of B-lymphocytes and immunoglobulin. T-lymphs are find and innate immunity fine.
- 6mo of age, pyogenic bacterial infixes.
- B-cell Tyrosine Kinase mutation, this activates maturation in B-cells = no maturation.
- Pooled serum immunoglobulin.
3
Q
Hyper-IgM deficiency.
- What is affected?
- Why is it affected?
- Clinical presentation?
A
- Increased IgM, decreased IgG, A, E.
- T-lymphs defective in inducing isotype switch. CD40L (CD154) or inadequate signal to CD40.
- Pyogenic infixes during infancy.
4
Q
Selective Ig deficiency.
- What is affected?
- Why is it affected?
- Clinical presentation?
A
- IgA deficiency.
- Failure of isotype switch.
- Asymptomatic -> sino-pulm infxns, GI infxns, AI dz’s, allergies, malignancy.
5
Q
Common variable immunodeficiency.
- What is affected?
- Why is it affected?
- Clinical presentation?
A
- Defect in B-lymph maturation. Hypogammaglobulinemia (IgG-IgA).
- Several causes. Mutations in signaling mechanisms.
- Teenagers + adults, Hx or recurrent bacterial and sino-pulm infxnx.
6
Q
Name all the T-lymph deficiencies.
A
- DiGeorge
- Nezelof
7
Q
DiGeorge (thymic dysplasia).
- What is affected?
- Why is it affected?
- Clinical presentation?
A
- No T-cells.
- Chrom. 22 deletion. Dvlpmntl deformity in 3rd + 4th pharyngeal pouches.
- Infxns at young age. Heart defects, facial features, no parathyroids, cleft palate, thymic hypoplasia.
8
Q
Nezelof = same fucking thing.
A
fuck
9
Q
SCID.
- What the fuck is it?
- How do you treat it?
- Clinical presentation?
- How is x-linked different?
A
- Severe Congenital Immunodeficiency.
- Defects in maturation of lymphocytes (T,B,NK).
- Tx w/ bone marrow transplantation or gene therapy.
- Susceptible to bacterial, viral, fungal, fucking everything, bubble boy.
- Decreased T-lymphs + NK-cells.
normal B. - IL-2R gene codes for y-chain of IL-2.
- No IL-receptors -> no cytokine signalling, no maturation of immune cells.
10
Q
Bare lymphocytes syndrome.
- What the fuck?
- Why the fuck?
- Clinical presentation?
A
- CD4’s don’t respond normally, decreased B-lymphs.
- Cytokine secretion absent. APC lack HLA-2 on surface, can’t present shit.
- T-lymphs = normal, B-cells decreased.
11
Q
Chronic granulomatous dz.
- What is affected?
- Why is it affected?
- Clinical presentation?
- Specific bugs?
A
- Macrophages and neutrophils aren’t working properly.
- Deficient production of superoxide generation through NADPH oxidase system in phagocytes -> decreased enzyme activity.
- Pneumonia, liver abscesses, skin infxns, lymphadenitis, osteomyelitis.
- CAT + bugs. Staph A, Burkolderia cepacia, serratia marcescens, aspergillus, nocardia.
12
Q
Adenosine deaminase deficiency.
- Genetics?
- Buildup of what?
- What cells affected?
- Secondary characteristics?
A
- AR.
- Purine metabolism is fucked. Buildup of Adenosine, Deoxyadenosine, Deoxy-ATP.
- Toxic to T-cells + B-cells.
- Dvlpmntl delay, bones are fucked, lungs are fucked, myeloid dysplasia.
13
Q
Purine nucleoside phosphorylase deficiency.
- Genetics?
- Buildup of what?
- What cells affected?
- Secondary characteristics?
A
- AR.
- Buildup of Guanosine, Inosine, Deoxyguanosine, Deoxyinosine.
- Toxic to T-cells.
- Low uric acid excretion, spastic shit going on, bone marrow dysplasia.
14
Q
Recombinase-Activating gene.
- What causes deficiency here?
- What cells affected?
- Clinical presentation?
A
- Limited VDJ recombination.
- Decreased T-cells and B-cells.
- Omenn syndrome: erythroderma, chronic diarrhea, FTT, desquamation, alopecia, HSM.
