Immunology Flashcards by Kyle Mendonça

ALPS dx

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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ALPS Evans Syndrome - epi, tx

50% of ALPS have Evans

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

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1o Immunodeficiency red flags

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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components of innate and adaptive immunity

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

Adaptive
- T CD8 cytotoxic
- T CD4 helper
- B

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immunodefic workup

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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neonatal Ig physiologic nadir

IgG 2-6mo
IgA/M increase from birth

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SCID definition and screening

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

absent TREC (T cell repertoire excision circles) on NBS

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SCID presentation

thrush, severe viral, opportunistic, live vaccine infection

FTT
chronic diarrhea
rash
lack of thymus

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T-B-NK- SICD types

ADA
Adenylate kinase 2

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T-B-NK+ SCID types

RAG1 and RAG2
DCLRE1C (artemis)
DNA ligase IV

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T-B+NK-

X linked SCID
JAK3

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T-B+NK+ SCID

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

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ADA SCID type

T-B-NK-

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Artemis (DCLRE1C) SCID

T-B-NK+

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X linked SCID type

T-B+NK-

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Omenn Syndrome

edema, fluid overload, inflammation, LN, rash

SCID supportive mgt

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

SCID HSCT

ASAP, ideally <3mo
MSD goal

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

SCID gene therapy

Bu conditioning

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

XLA mutation and pathophys

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

XLA presentation

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

XLA malig risk

lymphoproliferative malig
gastric, colorectal adenocarcinoma
SCC lung

XLA ix

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

XLA tx

IVIG
+- atb proph

HSCT if refractory

WAS triad and genetics

eczema microthrombocytopenia immunodeficiency - combined T/B - high IgA/E - lack of carbohydrate vaccine response WASP gene (Xp11) - flow cytometry

WAS malig risk

NHL other EBV-driven B L+L 10-20% risk

WAS tx

HSCT - best <5yo w MSD

XLP genetics, presentation, tx

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

CVID pathophys, presentation, dx, tx

humoral defect due to lack of plasma cell differentiation sinopulmonary chronic enteroviral meningoencephalitis lymphoprolif autoimmunity flow low CD19 poor vaccine response IVIG

AT features, genetics, malig risk

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

Chediak Higashi presentation, inheritance, immune issue, dx

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

giant lysosomal granules suggests

Chediak Higashi

Hyper IgE features, genetics

sinopulmonary eczema retained primary teeth coarse facial features STAT3 defic (aut dom) DOCK8 defic (aut rec)

#1 immunodeficiency

selective IgA deficiency

hyperIgM pathophys and tx

X linked CD40L deficiency -> no class switching -> no IgA/G IVIG, Septra HSCT