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immunodeficiencies Flashcards

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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
major types of hyperIgM syndrome, and key distinguishing features of each
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)
26
Wiskott Aldridge syndrome - key features for exams
WASP protein mutation --> impaired haematopoetic cellular protein TIME thrombocytopaenia - small defective platelets! immunodeficiency - OM, pneumoniae, encapsulated malignancy risk eczema
27
Cartilage Hair Hypoplasia - key features for exams
``` Amish + short limb dwarfism + + fine hair + joint laxity + infections a/w: i. Deficient erythrogenesis ii. Hirschsprung disease iii. Malignancy ```
28
ataxia-telangiectasia - key features for exams
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)
29
ataxia-telangiectasia - whats the problem?
ATM gene mutation - ATM used in dsDNA break repair | dsDNA breaks happen in TCR rejoining
30
ALPS - what is the problem?
autosomal DOMINANT | most due to FAS mutation > defective lymphocyte apoptosis > lymphocytes continue even after the insult
31
ALPS - key features for exam
**>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
32
IPEX - what is the problem?
mutation in FoxP3, fundamental for Treg function
33
IPEX - key features for exam
=Immune dysregulation, polyendocrinopathy, enteropathy, X-linked presents in infancy with classic triad: - enteropathy - AI endocrinopathy (T1DM/thyroiditis in neonate) - dermatitis
34
classic manifestations of a neutrophil defect
1. recurrent deep tissue infections - OM, abscess 2. unusual/resistant infections - aspergillus and burkholderia! 3. peri-odontal disease or tooth loss 4. omphalitis
35
explain process of extravasation
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
LAD: differentiate the 3 types
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
LAD - key features for exam
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
Chediak-Higashi syndrome - what is the problem?
lysosomal trafficking regulator (LYST) gene mutation > abnormal granules that don't work
39
Chediak-Higashi syndrome: key features for exam
STAPH BANGS: Staph aureus Photophobia with rotary nystagmus bleeding diasthesis - impaired plt aggregation albinism and light hair neuropathy granules suck - too big! neutropaenia!
40
pathology finding for Chediak-Higashi
large inclusions in nucleated cells
41
key complication of Chediak Higashi
HLH!
42
MPO deficiency - do we care or not?
not really, has really good prognosis | only give candida fungal prophylaxis
43
CGD - what is the problem?
mutation in NADPH oxidase, needed in respiratory burst on neutrophils and monocytes
44
CGD - key features for exam
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
lab tests for CGD, old and diagnostic
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
chronic neutropaenia defined as?
>3mo neutropaenia
47
severe congenital neutropaenia: - two mutations we care about - and the main problem we see now that they are living longer with our treatments
- ELANE (50%), HAX1 i.e. Kostmann syndrome | - MDS associated with monosomy 7 and AML
48
cyclic neutropaenia: key features for exams
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
name two disorders of molecular processing we care about that will cause neutropaenia
1. Schwamann Diamond syndrome - SBDS (ribosome problem) | 2. Dyskeratosis Congenita - telomerase probelsm
50
Schwamann-Diamond: key features for exams
Triad: 1. Neutropenia 2. Metaphyseal dysplasia 3. Pancreatic insufficiency (and OM, pneumonia, eczema)
51
Dyskeratosis congenita: classic features for exam
i. Nail dystrophy ii. Leukoplakia iii. Malformed teeth iv. Reticulated hyperpigmentation
52
Disorders of Vesicular Trafficking: two we care about for exams and how to tell them apart
1. Chediak-Higashi | 2. Griscelli Syndrome type II - WONT have giant granules
53
Disorder of metabolism we care about re: neutropaenia, and key features for exams
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
Alloimmune neonatal neutropenia vs Autoimmune neutropenia of infancy
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
some aetiology for non-congenital causes of neutropaenia
- post-infectious - nutritional (B12/folate def) - immune - malignancy - bone marrow disorder - hypoplasia e.g. fanconi's, aplastic anaemia - drugs - hypersplenism
56
Mendelian Susceptibility to Mycobacterial Disease (MSMD) - what's the problem?
group of conditions causing problems in the IFN -gamma- IL12 pathway of Th1 cells = required for control of bacterial/ parasitic/ viral infections
57
AD hyper IgE syndrome: classic exam features
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
three ddx for hyper IgE syndrome
1. SCID 2. atopic dermatitis - not doughy, no deep infections 3. Wiskott-Aldrich - should have thrombocytopaenia, small plt, bruising
59
hyper IgE syndrome - what's the problem?
mutated STAT3 affects the differentiation of Th17 cells, so neutrophil recruitment impaired
60
C1 inhibitor defect causes what condition? what's the problem?
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
Haploinsufficiency of factor H / I in complement pathway predisposes to what?
atypical HUS
62
recurrent Neisserial infections - think of what immune deficiency?
classical complement pathway problem
63
SLE a/w which complement deficiency
C1q, C4
64
WHIM - key features for exam, and what's the problem
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
selective IgA deficiency - incidence
1/500!
66
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
strep pneumo = B cells neisseria = complement gingivitis/periodontal disease = phagocytes i.e. neutrophils Recurrent, severe or unusual viral infections = T cells
67
GVHD mediate by what part of immune system
T cells
68
Bloody stools, draining ears, atopic eczema in newborn/infant =
Wiskott Aldrich
69
Delayed umbilical cord detachment, leukocytosis, recurrent infections in newborn/infant = ?
leukocyte adhesion defect
70
Persistent thrush, nail dystrophy, endocrinopathies in infant/child = ?
Chronic mucocutaneous candidiasis
71
Abscesses, suppurative lymphadenopathy, antral outlet obstruction, pneumonia, osteomyelitis in infant/child = ?
CGD
72
Severe progressive infectious mononucleosis = ?
XLLD
73
Sinopulmonary infections, splenomegaly, autoimmunity, malabsorption in older child/adolescent = ?
CVID
74
Progressive dermatomyositis with chronic enterovirus encephalitis in older child/adolescent = ?
XLA
75
DDx: eczema
* Wiskott-Aldrich syndrome * IPEX * Hyper-IgE syndromes * atopic dermatitis
76
sparse +/- hypopigmented hair: DDx
* Cartilage hair hypoplasia | * Chédiak-Higashi syndrome
77
Recurrent abscesses with pulmonary pneumatoceles = ?
hyper IgE
78
Growth hormone deficiency + immune deficiency =
XLA
79
gonadal dysgenesis + immune deficiency = ?
Mucocutaneous candidiasis
80
normal ESR in immune question - what does this indicate
chronic bacterial or fungal infection unlikely
81
Significant splenomegaly = ?
ALPS

immunology (3 decks)

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