SCID Flashcards
What other non-infectoius complications might accomany SCID?
autoimmunity, allergy and malignancies
What are some extracellular pathogens?
S.aureus s. pyognes (pneumoniae), E.coli and mycoplasma
What dysfuncitions in immune sytem are associated with catalsae positive organisms?
neutrophil defects e.g. CGD.
What are intracellular infections mostly associated with
Salmonella typhi, listeria, mycobacteria, viruses and fungi.
What are some encapsulated organisms?
penumococcuse and meningococcus
Which PIDs associated with extracellular bacteria?
particularly resp tact infections- antibody deficiency
But also CID, phagocytic defects and complement defects
What PIDs associated with mycobacterial infections?
CID and phagocytic only.
What PIDs are associated with broad viral infections and enteroviruses?
broad (espeically RSV)= CID
enteroviruses= antibody deficiency.
What PIDs are associated with fungal infections?
broad range (+histoplasmosis and cryptococcus) = CID aspergillus and candida= phagocytosis
What PIDs associated with protozoal infections?
braod range (cryptosporidium and pneumocystis jirovecci = CID
Giardia= antibody deficiency
What vaccine can cause gastroenteritis in neonates with undiagnosed PID?
rotavirus vaccine.
What number of T cells is typical SCID?
<300 T cells per 1ul blood.
What number of T cells can be seen in leaky SCID?
> 300 T cell per 1ul blood.
What is an example of leaky SCID and what are symptoms?
Omens syndrome (hypomorphic mutations within RAG1/2) erythroderma (eczema like), lymphadenopathy and hepatosplenomegaly,
Immunologoical features of Omenns syndrome?
T- B- NK+
oligonal T cells with restricted TCR repertoire and often autroeactive,
High IgE and eosinophilia.
What condition can present similarly to OMens syndrome? What is used to dignose if boy?
maternaal engraftemnt.
Maternal T cells have entered foetal circulation creating a GVHD-like phenomenon
Can use XY FISh in this case.
What kind of mutaions can lead to SCID?
TCR dfecets cytokine signalling Recomination defects metabolism defects other
What moelcules in TCR complex and signallig can cause SCID?
CD3episolon zeta delta, ZAP70 and CD445.
What cytokine signalling molecule dffects contribute ot SCID?
common y-chain/ JAK3 adn IL-7R
What reombinatino dfects can cause SCID?
RAG1/2
Artemis, Cernunnons and DNA PKcs
metabolism defects leading to SCID?
ADA and reticular dysgenesis.
Other SCID causes?
COronin 1A, FoXN1,ORAI and STIM1 deficiency.
What cytokine receptors include the common y chain?
IL-2, 4, IL-7R, 9, 15 and IL-21.
Which of common y chain deficency, JAK3 deficiency or IL-7Ra deficiency are AR or X linked?
common y cahin and JAK3 are both X SCID
Il7Ra deficiency is AR SCID.
what does ORAI and STIM 1 defiency cause? and what kind of presentation (similar to NEMO) do they get?
Causes defect in calicum release activation channel.
Have ectodermal dysplasia- skin, teeth, hair and nail (hypohydrosis).
Where are most deleitions for athymia found? what other sydromic features?
Chromosone 22 (is autosomal dominant) , may also have congenital heart defets and cleft palate.
What two other AR mutations cause athymia?
FOXN1 adn PAX1 (both these involved in TEC develpoemnt)
What is T cell subset phenotype of common ychain, JAK3 SCID?
T- B+ NK-
What is T cell subset phenotype of IL-7Ra, cronin-1a, ZAP-70 and CD3zetadelta/epsilon?
T- B+ NK+
What is T cell subset phenotype of ADA SICD?
T- B- NK-
What is T cell subset phenotype of RAG1/2 , ARtemis, cernunnos, DNA Pkcs?
T-B- NK+
