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immunology > immunodeficiencies > Flashcards

immunodeficiencies Flashcards

1
Q

recurrent infections of what kind occur with B cell vs T cell problems?

A

B cell = sinopulmonary, or encapsulated organisms. enterovirus/polio.
T cell = viral infections

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2
Q

how many episodes of ear infections / sinus infectionsmakes you think of pid

A

Four or more middle ear infections within one year

Two or more serious sinus infections within one year

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3
Q

XLA - what happens

A

maturation stops at immature B cell stage because of BTK mutation (Bruton’s Tyrosine Kinase) at Xq22 – XLA gene

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4
Q

what are isohaemagluttinins?

A

natural Ab to type A and B polysaccharide antigens

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5
Q

key features of XLA for exams

A

no B cells, little to no Ig
no tonsils/lymph nodes
well until 6-9mo when maternal Ig fade
infections: encapsulated bugs, enterovirus problems (e.g. encephalitis, myocarditis) and paralysis with polio

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6
Q

CVID - what is the problem

A

cause unclear, lots of genes, a/w IgA def

but basically B cell differentiation into plasma cells is impaired

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7
Q

CVID - key features for exams

A

older at dx - late childhood/adulthood
labs: normal B cells, very low IgG +/- IgA
FHx IgA def

AI disease in 25%
granulomatous disease
recurrent B cell type infections
lymphoid malignancies

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8
Q

which is the most common primary immunodeficiency?

A

selective IgA deficiency!

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9
Q

selective IgA deficiency - key features for exams

A
  • a/w: giardiasis / coeliac like syndrome, allergy
  • anaphylaxis to IgA products!! Need washed blood, and mostly IgG IVIG
  • anti-IgA antibodies in 33%
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10
Q

Transient Hypogammaglobulinaemia of Infancy - what happens

A

persistence of normal nadir of Ig - delayed synthesis of immunoglobulins until after maternal IgG catabolized

resolves by 4yo

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11
Q

x linked lymphoproliferative disorder - what happens

A

defective immune response that leads to excessive T cell proliferation to try and kill (but can’t) and persistence of EBV infected cells

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12
Q

key features of XLLD

A

a/w EBV, presentation usually with 1st exposure

outcomes:
1) fulminant EBV and HLH has worst prognosis
2) lymphoma esp ileocaecal
3) acquired hypogammaglobulinaemia/ Dysgammaglobulinaemia (ii. low IgG, high IgA and IgM)

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13
Q

complete vs partial digeorge

A

a. Partial DiGeorge = variable hypoplasia of the thymus and parathyroid glands
b. Complete DiGeorge = total aplasia

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14
Q

autoimmune polyglandular syndrome 1 / autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy (APS1/APECED) - what happens

A

mutation in AIRE - so self-reactive Th made

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15
Q

APS1/APECED - key features for exam

A
  1. Mucocutaneous candidiasis
  2. hypoparathyroidism - low Ca –> seizures
  3. adrenal failure - low cortisol

and ectodermal dystrophy

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16
Q

Combined immunodeficiency syndrome

A

= disturbance in the development and function of T and B cells

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17
Q

most common inheritance patterns of SCIDs

A

most X linked - IL-2

some AR

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18
Q

classic clinical manifestations of SCID

A

FTT
chronic diarrhoea
severe infections - candidiasis, viruses, opportunistic e.g. PJP, reaction to live vaccines
GVHD

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19
Q

best screening tool for SCID

A

TREC - ormation of TREC from excised DNA occurs during the VDJ recombination of TCR in the thymus

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20
Q

specific types of SCID

A

T-B+NK-
X-Linked SCID
JAK3 deficiency

T-B+NK+
IL-7 receptor alpha chain (CD127) deficiency

T-B-NK-
Adenosine deaminase deficiency

T-B-NK+
RAG1 and RAG2
Artemis

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21
Q

most common and second most common types of SCID

A

most common = X-Linked SCID – IL-2 R common gamma chain

second most common = ADA deficiency, profound lymphopaenia

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22
Q

Omenn syndrome - key features for exam

A

RAG1/RAG2 deficiency
alopecia, erythroderma
raised IgE and eosinophils

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23
Q

types of CID we care about

A

WHAt Did George Care and Bare?

Wiskott Aldrich 
HyperIgM 
Ataxia-Telangectasia 
DiGeorge
Cartilage hair hypoplasia 
Bare lymphocyte syndromes (MHCI and II deficiency)
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24
Q

what is the crux of the problem in hyper IgM syndrome?

A

B cell can’t undergo class switching

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25
Q

major types of hyperIgM syndrome, and key distinguishing features of each

A

type 1
= X-linked, mutation in CD40L so it’s actually a T cell defect.
PJP and crypto
less CD27+ memory B cells

type 2 = AID deficiency, needed for somatic hypermutation
very high levels of polyclonal IgM

type 3 = CD40 deficiency (AR)

type 5 = uracil-DNA-glycosylase deficiency (UNG mutation)

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26
Q

Wiskott Aldridge syndrome - key features for exams

A

WASP protein mutation –> impaired haematopoetic cellular protein
TIME
thrombocytopaenia - small defective platelets!
immunodeficiency - OM, pneumoniae, encapsulated
malignancy risk
eczema

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27
Q

Cartilage Hair Hypoplasia - key features for exams

A 
Amish + short limb dwarfism + + fine hair + joint laxity + infections 
a/w: 
i.	Deficient erythrogenesis
ii.	Hirschsprung disease 
iii.	Malignancy
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28
Q

ataxia-telangiectasia - key features for exams

A
  1. Cerebella ataxia - soon after walking, wheelchair by 10-12yo
  2. Oculocutaneous telangiectasias 3-6yo
  3. Chronic sinuopulmonary disease
  4. malignancy
  5. humoral and cellular immunodeficiency - selective IgA def most common

and high AFP!! (weird we don’t know why)

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29
Q

ataxia-telangiectasia - whats the problem?

A

ATM gene mutation - ATM used in dsDNA break repair

dsDNA breaks happen in TCR rejoining

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30
Q

ALPS - what is the problem?

A

autosomal DOMINANT

most due to FAS mutation > defective lymphocyte apoptosis > lymphocytes continue even after the insult

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31
Q

ALPS - key features for exam

A

>6months lymphadenopathy
significant SPLENOMEGALY
double negative T cells
IgG and IgA elevated
malignancy: lymphoma
AI stuffs - all the itis’s and anaemia/plt; because these stupid T cells attack everyone

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32
Q

IPEX - what is the problem?

A

mutation in FoxP3, fundamental for Treg function

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33
Q

IPEX - key features for exam

A

=Immune dysregulation, polyendocrinopathy, enteropathy, X-linked

presents in infancy with classic triad:

  • enteropathy
  • AI endocrinopathy (T1DM/thyroiditis in neonate)
  • dermatitis
34
Q

classic manifestations of a neutrophil defect

A
  1. recurrent deep tissue infections - OM, abscess
  2. unusual/resistant infections - aspergillus and burkholderia!
  3. peri-odontal disease or tooth loss
  4. omphalitis
35
Q

explain process of extravasation

A
  1. rolling: endothelium selectin binds sialyl-lewis X of neutrophils
  2. adhesion between endothelium CAMs and neutrophil integrin
  3. transmigration between endothelial cells
  4. phagocytes follow cytokine concentration gradient
36
Q

LAD: differentiate the 3 types

A

type 1 = most common = failure of CD18 (subunit of integrin)
type 2 = rare = no sialyl-lewis X
- neuro defects, cranial dysmorphism
type 3 = Kindlin 3 required for activation of integrins
- bleeding disorder

37
Q

LAD - key features for exam

A

recurrent infections WITH NO PUS
umbilical cord stays on for ages like 3 weeks! > omphalitis
leukocytosis ++++ (can’t get to site of infection)
slow wound healing, bad scarring

38
Q

Chediak-Higashi syndrome - what is the problem?

A

lysosomal trafficking regulator (LYST) gene mutation > abnormal granules that don’t work

39
Q

Chediak-Higashi syndrome: key features for exam

A

STAPH BANGS:

Staph aureus
Photophobia with rotary nystagmus

bleeding diasthesis - impaired plt aggregation
albinism and light hair
neuropathy
granules suck - too big! neutropaenia!

40
Q

pathology finding for Chediak-Higashi

A

large inclusions in nucleated cells

41
Q

key complication of Chediak Higashi

A

HLH!

42
Q

MPO deficiency - do we care or not?

A

not really, has really good prognosis

only give candida fungal prophylaxis

43
Q

CGD - what is the problem?

A

mutation in NADPH oxidase, needed in respiratory burst on neutrophils and monocytes

44
Q

CGD - key features for exam

A

infections esp catalase-positive pathogens: staph aureus and aspergillus!
also usually local not systemic infection - liver abscess should prompt investigation for CGD!
granulomas that can cause GI/GU obstruction

45
Q

lab tests for CGD, old and diagnostic

A

Nitroblue tetrazolium (NBT) dye test - normal neutrophils reduce the dye to blue

DHR test - if normal, will oxidise the DHR and cause it to fluoresce

46
Q

chronic neutropaenia defined as?

A

> 3mo neutropaenia

47
Q

severe congenital neutropaenia:

  • two mutations we care about
  • and the main problem we see now that they are living longer with our treatments
A
  • ELANE (50%), HAX1 i.e. Kostmann syndrome

- MDS associated with monosomy 7 and AML

48
Q

cyclic neutropaenia: key features for exams

A

every 2-4weeks get neutropaenic nadir with: ulcers, pharyngitis, LN enlargement etc
ELANE mutation
FBE 3 times per week for 6-8 weeks = demonstrating oscillation
give them GCSF cyclically

49
Q

name two disorders of molecular processing we care about that will cause neutropaenia

A
  1. Schwamann Diamond syndrome - SBDS (ribosome problem)

2. Dyskeratosis Congenita - telomerase probelsm

50
Q

Schwamann-Diamond: key features for exams

A

Triad:

  1. Neutropenia
  2. Metaphyseal dysplasia
  3. Pancreatic insufficiency

(and OM, pneumonia, eczema)

51
Q

Dyskeratosis congenita: classic features for exam

A

i. Nail dystrophy
ii. Leukoplakia
iii. Malformed teeth
iv. Reticulated hyperpigmentation

52
Q

Disorders of Vesicular Trafficking: two we care about for exams and how to tell them apart

A
  1. Chediak-Higashi

2. Griscelli Syndrome type II - WONT have giant granules

53
Q

Disorder of metabolism we care about re: neutropaenia, and key features for exams

A

Glycogen storage disease (GSD) type Ib - defective neutrophil motility cos the glucose aint flowing right:

i. Massive hepatomegaly
ii. Severe growth retardation
iii. Neutropenia with recurrent infections

54
Q

Alloimmune neonatal neutropenia vs Autoimmune neutropenia of infancy

A

Alloimmune:

  • maternal Abs directed at infant neutrophils (kinda like rhesus)
  • present first few weeks with infections
  • recovers by 8 weeks

Autoimmune:

  • benign, presents ~9mo, lasts up to 2y, self-resolves
  • from anti-neutrophil Ab
55
Q

some aetiology for non-congenital causes of neutropaenia

A
  • post-infectious
  • nutritional (B12/folate def)
  • immune
  • malignancy
  • bone marrow disorder
  • hypoplasia e.g. fanconi’s, aplastic anaemia
  • drugs
  • hypersplenism
56
Q

Mendelian Susceptibility to Mycobacterial Disease (MSMD) - what’s the problem?

A

group of conditions causing problems in the IFN -gamma- IL12 pathway of Th1 cells = required for control of bacterial/ parasitic/ viral infections

57
Q

AD hyper IgE syndrome: classic exam features

A

in debt:

  1. infections - esp skin staph abscesses
  2. doughy coarse facial features
  3. eczema in first week of life, severe
  4. bones - scoliosis, osteporosis
  5. teeth - retain primary
58
Q

three ddx for hyper IgE syndrome

A
  1. SCID
  2. atopic dermatitis - not doughy, no deep infections
  3. Wiskott-Aldrich - should have thrombocytopaenia, small plt, bruising
59
Q

hyper IgE syndrome - what’s the problem?

A

mutated STAT3 affects the differentiation of Th17 cells, so neutrophil recruitment impaired

60
Q

C1 inhibitor defect causes what condition? what’s the problem?

A

hereditary angioedema 1 and 2:

  • ncontrolled activation of classical pathway leads to increased activation of FXII and production of bradykinins > increased vascular permeability + angioedema
  • No urticaria as NOT mast cell driven
61
Q

Haploinsufficiency of factor H / I in complement pathway predisposes to what?

A

atypical HUS

62
Q

recurrent Neisserial infections - think of what immune deficiency?

A

classical complement pathway problem

63
Q

SLE a/w which complement deficiency

A

C1q, C4

64
Q

WHIM - key features for exam, and what’s the problem

A

Problem: mutant CXCR4 chemokine receptor causes abnormal apoptosis and migratory function, with retention of mature neutrophils in the bone marrow
Features:
Warts (HPV)
hypogammaglobulinaemia
infections
myelokathexis (retention of neutrophils at the bone marrow)

65
Q

selective IgA deficiency - incidence

A

1/500!

66
Q

recurrent infections of the following suggest deficiency in what part of the immune system:

recurrent strep pneumoniae
neisseria meningitis
gingivitis/periodontal disease
Recurrent, severe or unusual viral infections

A

strep pneumo = B cells
neisseria = complement
gingivitis/periodontal disease = phagocytes i.e. neutrophils
Recurrent, severe or unusual viral infections = T cells

67
Q

GVHD mediate by what part of immune system

A

T cells

68
Q

Bloody stools, draining ears, atopic eczema in newborn/infant =

A

Wiskott Aldrich

69
Q

Delayed umbilical cord detachment, leukocytosis, recurrent infections in newborn/infant = ?

A

leukocyte adhesion defect

70
Q

Persistent thrush, nail dystrophy, endocrinopathies in infant/child = ?

A

Chronic mucocutaneous candidiasis

71
Q

Abscesses, suppurative lymphadenopathy, antral outlet obstruction, pneumonia, osteomyelitis in infant/child = ?

A

CGD

72
Q

Severe progressive infectious mononucleosis = ?

A

XLLD

73
Q

Sinopulmonary infections, splenomegaly, autoimmunity, malabsorption in older child/adolescent = ?

A

CVID

74
Q

Progressive dermatomyositis with chronic enterovirus encephalitis in older child/adolescent = ?

A

XLA

75
Q

DDx: eczema

A
  • Wiskott-Aldrich syndrome
  • IPEX
  • Hyper-IgE syndromes
  • atopic dermatitis
76
Q

sparse +/- hypopigmented hair: DDx

A
  • Cartilage hair hypoplasia

* Chédiak-Higashi syndrome

77
Q

Recurrent abscesses with pulmonary pneumatoceles = ?

A

hyper IgE

78
Q

Growth hormone deficiency + immune deficiency =

A

XLA

79
Q

gonadal dysgenesis + immune deficiency = ?

A

Mucocutaneous candidiasis

80
Q

normal ESR in immune question - what does this indicate

A

chronic bacterial or fungal infection unlikely

81
Q

Significant splenomegaly = ?

A

ALPS

immunology (3 decks)

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