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Hilary week 4 > SCID > Flashcards

SCID Flashcards

1
Q

What other non-infectoius complications might accomany SCID?

A

autoimmunity, allergy and malignancies

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2
Q

What are some extracellular pathogens?

A

S.aureus s. pyognes (pneumoniae), E.coli and mycoplasma

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3
Q

What dysfuncitions in immune sytem are associated with catalsae positive organisms?

A

neutrophil defects e.g. CGD.

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4
Q

What are intracellular infections mostly associated with

A

Salmonella typhi, listeria, mycobacteria, viruses and fungi.

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5
Q

What are some encapsulated organisms?

A

penumococcuse and meningococcus

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6
Q

Which PIDs associated with extracellular bacteria?

A

particularly resp tact infections- antibody deficiency

But also CID, phagocytic defects and complement defects

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7
Q

What PIDs associated with mycobacterial infections?

A

CID and phagocytic only.

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8
Q

What PIDs are associated with broad viral infections and enteroviruses?

A

broad (espeically RSV)= CID

enteroviruses= antibody deficiency.

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9
Q

What PIDs are associated with fungal infections?

A 
broad range (+histoplasmosis and cryptococcus) = CID
aspergillus and candida= phagocytosis
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10
Q

What PIDs associated with protozoal infections?

A

braod range (cryptosporidium and pneumocystis jirovecci = CID

Giardia= antibody deficiency

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11
Q

What vaccine can cause gastroenteritis in neonates with undiagnosed PID?

A

rotavirus vaccine.

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12
Q

What number of T cells is typical SCID?

A

<300 T cells per 1ul blood.

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13
Q

What number of T cells can be seen in leaky SCID?

A

> 300 T cell per 1ul blood.

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14
Q

What is an example of leaky SCID and what are symptoms?

A

Omens syndrome (hypomorphic mutations within RAG1/2) erythroderma (eczema like), lymphadenopathy and hepatosplenomegaly,

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15
Q

Immunologoical features of Omenns syndrome?

A

T- B- NK+
oligonal T cells with restricted TCR repertoire and often autroeactive,
High IgE and eosinophilia.

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16
Q

What condition can present similarly to OMens syndrome? What is used to dignose if boy?

A

maternaal engraftemnt.
Maternal T cells have entered foetal circulation creating a GVHD-like phenomenon

Can use XY FISh in this case.

17
Q

What kind of mutaions can lead to SCID?

A 
TCR dfecets
cytokine signalling
Recomination defects
metabolism defects
other
18
Q

What moelcules in TCR complex and signallig can cause SCID?

A

CD3episolon zeta delta, ZAP70 and CD445.

19
Q

What cytokine signalling molecule dffects contribute ot SCID?

A

common y-chain/ JAK3 adn IL-7R

20
Q

What reombinatino dfects can cause SCID?

A

RAG1/2

Artemis, Cernunnons and DNA PKcs

21
Q

metabolism defects leading to SCID?

A

ADA and reticular dysgenesis.

22
Q

Other SCID causes?

A

COronin 1A, FoXN1,ORAI and STIM1 deficiency.

23
Q

What cytokine receptors include the common y chain?

A

IL-2, 4, IL-7R, 9, 15 and IL-21.

24
Q

Which of common y chain deficency, JAK3 deficiency or IL-7Ra deficiency are AR or X linked?

A

common y cahin and JAK3 are both X SCID

Il7Ra deficiency is AR SCID.

25
Q

what does ORAI and STIM 1 defiency cause? and what kind of presentation (similar to NEMO) do they get?

A

Causes defect in calicum release activation channel.

Have ectodermal dysplasia- skin, teeth, hair and nail (hypohydrosis).

26
Q

Where are most deleitions for athymia found? what other sydromic features?

A

Chromosone 22 (is autosomal dominant) , may also have congenital heart defets and cleft palate.

27
Q

What two other AR mutations cause athymia?

A

FOXN1 adn PAX1 (both these involved in TEC develpoemnt)

28
Q

What is T cell subset phenotype of common ychain, JAK3 SCID?

A

T- B+ NK-

29
Q

What is T cell subset phenotype of IL-7Ra, cronin-1a, ZAP-70 and CD3zetadelta/epsilon?

A

T- B+ NK+

30
Q

What is T cell subset phenotype of ADA SICD?

A

T- B- NK-

31
Q

What is T cell subset phenotype of RAG1/2 , ARtemis, cernunnos, DNA Pkcs?

A

T-B- NK+

Hilary week 4 (7 decks)

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