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H/O RC > Immunology > Flashcards

Immunology Flashcards

1
Q

ALPS dx

A

Lymphoproliferation, cytopenias, LN/splenomegaly

Required
- >6mo nonmalignant/inf LN or splenomeg
- elevated DNT cells

Accessory
- defective lymphocyte apoptosis
- somatic/germline mutation FAS, FASLG, CASP10
- elevated plasma sFASL or IL-10 or B12 or IL-18
- IHC findings
- autoimm cytopenias and elevated IgG
- FHx

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2
Q

ALPS Evans Syndrome - epi, tx

A

50% of ALPS have Evans

steroid + IVIG
pulse MP –> pred maintenance
+- MMF or sirolimus

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3
Q

1o Immunodeficiency red flags

A

4 AOM/y
FHx
FTT
fungal inf
2 pneumonia
2 sinus infection/y
2 mo IV atb
2 deep seated inf
recurrent deep skin inf
IV atb

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4
Q

components of innate and adaptive immunity

A

Innate
- physical barriers, complement, cytokines, fever, mucous
- neutrophils
- macrophage
- NK
- eosinophil

Adaptive
- T CD8 cytotoxic
- T CD4 helper
- B

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5
Q

immunodefic workup

A

quantitative: CBC, B/T subsets, Ig, complement

Qualitative:
- T: mitogen stimulation, TCR beta repertoire
- B: Ig, CD40L (class switching), vaccine titre

Other
- CXR (thymus)
- TREC (SCID)

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6
Q

neonatal Ig physiologic nadir

A

IgG 2-6mo
IgA/M increase from birth

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7
Q

SCID definition and screening

A

low/absent fxnl T cells (CD3 <300/uL)
+- nonfxnl B cells

absent TREC (T cell repertoire excision circles) on NBS

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8
Q

SCID presentation

A

thrush, severe viral, opportunistic, live vaccine infection

FTT
chronic diarrhea
rash
lack of thymus

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9
Q

T-B-NK- SICD types

A

ADA
Adenylate kinase 2

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10
Q

T-B-NK+ SCID types

A

RAG1 and RAG2
DCLRE1C (artemis)
DNA ligase IV

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11
Q

T-B+NK-

A

X linked SCID
JAK3

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12
Q

T-B+NK+ SCID

A

IL-7 receptor alpha (CD127)
T cell Ag receptor complex
CD45

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13
Q

ADA SCID type

A

T-B-NK-

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14
Q

Artemis (DCLRE1C) SCID

A

T-B-NK+

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15
Q

X linked SCID type

A

T-B+NK-

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16
Q

Omenn Syndrome

A

edema, fluid overload, inflammation, LN, rash

17
Q

SCID supportive mgt

A

proph: Septra, fluc, IVIG
viral PCR surveillance
no BF until Mom CMV neg
protective isolation
SW
irradiated blood products

18
Q

SCID HSCT

A

ASAP, ideally <3mo
MSD goal

MSD - no conditioning
haplo - no conditioning, T cell depletion
MUD - condition

19
Q

SCID gene therapy

A

Bu conditioning

trial for ADA w lentiviral vector: OS 100%, immune reconstitution 96%

20
Q

XLA mutation and pathophys

A

BTK (bruton tyrosine kinase) mutation -> pre-B cell arrest -> no Ab

21
Q

XLA presentation

A

present at 6mo after maternal IgG nadir with
- recurrent bacterial infections
- chronic enteroviral meningoencephalitis
- vaccine associated paralytic poliomyelitis

22
Q

XLA malig risk

A

lymphoproliferative malig
gastric, colorectal adenocarcinoma
SCC lung

23
Q

XLA ix

A

flow low/absent CD19
absent Ig
neg vaccine titres
absent tonsil/adenoid/lymph tissue
BTK mutation testing

24
Q

XLA tx

A

IVIG
+- atb proph

HSCT if refractory

25
Q

WAS triad and genetics

A

eczema
microthrombocytopenia
immunodeficiency
- combined T/B
- high IgA/E
- lack of carbohydrate vaccine response

WASP gene (Xp11)
- flow cytometry

26
Q

WAS malig risk

A

NHL
other EBV-driven B L+L

10-20% risk

27
Q

WAS tx

A

HSCT - best <5yo w MSD

28
Q

XLP genetics, presentation, tx

A

XLP1 = SH2D1A mutation
XLP2 = BIRC4 mutation

HLH post EBV inf
fatal infectious EBV
aplastic anemia
pulm lymphoid granulomatosis
hypogamm

HSCT
- outcomes 80%, but 50% if active HLH

29
Q

CVID pathophys, presentation, dx, tx

A

humoral defect due to lack of plasma cell differentiation

sinopulmonary
chronic enteroviral meningoencephalitis
lymphoprolif
autoimmunity

flow low CD19
poor vaccine response

IVIG

30
Q

AT features, genetics, malig risk

A

progressive cerebellar ataxia
oculocutaneous telangiectasia
immunodeficiency (sinopulm)

aut rec ATM mutation

lifetime malig risk 30-40%
L+L (T cell, DLBCL)
carcinoma: breast, gastric, thyroid, liver

31
Q

Chediak Higashi presentation, inheritance, immune issue, dx

A

partial oculocutaneous albinism
frequent bacterial infections
progressive neuro dysfunction
mild-mod neutropenia

aut rec CHS1 mutation

profound NK/T cell, monocyte, lymphocyte dysfxn

giant lysosomal granules in blood/BM

32
Q

giant lysosomal granules suggests

A

Chediak Higashi

33
Q

Hyper IgE features, genetics

A

sinopulmonary
eczema
retained primary teeth
coarse facial features

STAT3 defic (aut dom)
DOCK8 defic (aut rec)

34
Q

1 immunodeficiency

A

selective IgA deficiency

35
Q

hyperIgM pathophys and tx

A

X linked CD40L deficiency -> no class switching -> no IgA/G

IVIG, Septra
HSCT

H/O RC (31 decks)

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