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MLSCI 475 > Immune Deficiencies > Flashcards

Immune Deficiencies Flashcards

1
Q

define immune deficiency

A

decrease in function or absence of one or more components of the immune system
- organs, tissues = spleen, thymus, bone marrow

  • cells = T, B, NK, phagocytic cells
  • proteins - complement, Igs, cell signalling, receptors, cytokines, etc.
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2
Q

classification of immune deficiencies

A

primary and secondary

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3
Q

primary immune deficincies

A

congenital
- rare!

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4
Q

secondary immune deficiencies

A

acquired
- viruses = HIV, EBV, congenital infections
- drugs
- radiation
- malignancy
etc,

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5
Q

general characteristics of immune deficiencies

A
  • recurrent infections
  • ealy age (4-6 mos)
  • failure to thrive
  • male predominance (X-linked)
  • uncommon infections
  • site specific infections (ear, sinus, resp, etc.)
  • malignancy (CD8 cells not working)
  • failure to respond to treatment
  • autoimmune features
  • variable in severity and clinical presentation
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6
Q

DiGeorge Syndrome deletion

A

deletion of q11.2 on chromosome 22

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7
Q

define Digeorge Syndrome

A
  • impaired development of thymus, parathyroid gland, and heart
    > discovered bc of heart defect (pouches in embryo)
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8
Q

clinical presentatioons of Digeorge syndrome

A

congenital heart disease
hypocalcemia
cleft palate
recurent infections
learning disabilities
autoimmunity

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9
Q

treatment of immune dysfunction

A

IVIg, prophylactic antibiotics, thymus transplant

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10
Q

common features of phagocytic cell disorders

A
  • recurrent bacterial and fungal infections
  • skin + soft tissues = gingivitis, thrush, hepatitis
  • impaired wound healing
  • pneumonia = S. pneumonia, Klebsiella. Serratia marcescens, Aspergillis sp.
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11
Q

Chediak Higashi (5)

A
  • autosomal recessive mutation 1q42
  • LYST lysosomal trafficking reg gene
  • giant non-functional granules
  • impaired intracellular killing by neuts, NK cells
  • increase in lymphs
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12
Q

clinical presentation of Chediak Higashi

A
  • gingivitis, S. aureus, Candida
  • progressive neurological dysfunction
  • reduced pigmentation (melanin granules not produced)
  • light sensitivity sometimes?
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13
Q

accelerated phase of CH

A

fever
lymph infiltrates
thrombocytopenia
neutropenia
EBV

Treatment = HSCT

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14
Q

leukocyte adhesion deficiency (LAD)

A
  • aut recessive 21q22
  • missing B2 integrin (CD18)
  • common to LFA-1, Mac-1, gp150/95 (CD11)
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15
Q

clinical presentations of LAD

A
  • gram pos and neg infections
  • viral response decreased
  • absence of pus at wound site
  • high WBC count
  • variation in severity and outcomes
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16
Q

treatment of LAD

A

antibiotic prophylaxis and HSCT

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17
Q

Chronic Granulomatous Disease

A

X-linked (70%)
Aut Rec (30%)
- Xp21, 1q25, 16q24
- no NADPH oxidase
- decreased intracell killing
- inflammation and granulomas

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18
Q

clinical presentation of CGD

A

gingivitis, enlarged lymph nodes, granulomas

bacterial and fungal infections common

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19
Q

treatment of CGD

A

early culture and sensitivity
antibiotic prophylaxis

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20
Q

NADPH oxidase leads to superoxide (2O2) this leads to other reactive oxidative species such as …

A

hydroxyl radicals = OH
H2O2
hypochlorite (ClO-)

21
Q

X-linked Agammaglobulinemia (XLA)

A
  • missing Btk (cell signalling)
  • no maturation of pre-B to B cells (no peripheral B cells)
  • decreased IgG levels = absence of other classes
  • systemic infections (URT, LRT, GI, deep tissues)
  • S. pneumo, Haemophilus influenzae
22
Q

treatment of XLA

A

IVIg with poor prognosis (late teens)

23
Q

Granulopoiesis requires this

A

CD40L

24
Q

most common primary immune deficiency

A

IgA deficiency

25
Q

define IgA deficiency

A

varying levels of IgA = mild decrease to absent
- unknown cause
- associated with increase incidence of ITP, allergies, lupus, arthritis; IgG2, IgG4 deficiency
- increased infections of mucosal surfaces = URT, LRTm otitis media

26
Q

treatment of IgA deficiency

A

antibiotics for bacterial infections
prevention is KEY = handwashing

27
Q

X-linked hyper IgM

A
  • Xq26
  • no CD40L on T cells
  • low IgG,A,E, but increased IgM
28
Q

X-linked hyper IgM clinical presentations

A

neutropenia
thrombocytopenia
granulopoiesis requires CD40L
pneumonia early in life = pneumocystis, Cryptococcus, CMV

29
Q

X-linked hyper IgM treatment

A

IVIg

30
Q

presentation of SCID

A
  • low, absent or non-functioning T cells
    > B and NK cells may also be affected
  • several modes of inheritance
  • severe immunodeficiency
  • poor prognosis (<2 yrs if untreated)
  • RARE
31
Q

symptoms of SCID

A

failure to thrive

recurrent infections at 3-6 mos

  • rash, diarrhea, skin and sinopulmonary infections, abscesses, poor wound healing

lymphopenia
hypothymia

32
Q

common organisms that infect babies

A

Staph
Strep
Haemophilus
Candida

33
Q

opportunistic infections that can lead to death for babies with SCID

A

C. albicans
Pneumocystis jirovecii
varicella
adenovirus
RSV
parainfluenza 3
CMV
EBV

34
Q

causes of SCID

A

mutation affecting T cells with or without B and NK involvement

T-B-NK-
T-B+NK+
T-B-NK+

35
Q

most common cause of SCID

A

SCID X1
- no gamma-c chain for IL-2,4,7,9,15,21
IL2Ry affected Xq13.1
T-B+NK-
B cells present but non-functional

36
Q

Adenosine deaminase deficiency (ADA)

A
  • autosomal recessive 20q13.11
  • ADA function = adenosine to inosine
  • if no enzyme = accumulation of deoxyadenosine triphosphate (dATP) = inhibits ribonucleotide reductase
    = NO DNA synthesis
  • T-B-NK-
37
Q

treatment for ADA

A

ADA and PEG injections given as co-treatment

38
Q

IL-7Ra

A
  • rare!
  • autosomal recessive 5p13
    IL-7R = gamma-c chain (same as IL-2,4,7,9,13) and alpha chain
  • T-B+NK+
  • B and NK cells normal in number
39
Q

causes of SCID

A

SCID-X1
ADA
IL-7a
JAK3
ZAP70
RAG1/RAG2
CD45

40
Q

JAK3 as a cause of SCID

A

impaired signalling during hematopoiesis
T-B+NK-

41
Q

ZAP 70 cause of SCID

A

impaired signalling of TCR
T-B+NK+ (normal T4+ but absent T8+)

42
Q

RAG1/RAG2 cause of SCID

A

no TCR or immune globulin rearrangement
T-B-NK+

43
Q

CD45 cause of SCID

A

impaired T and B cell receptor signal transduction
T-B-NK+

44
Q

TREC PCR

A
  • newborn metabolic screening
  • T-cell receptor excision circles
    > circular DNA fragments
    > byproducts of TCR gene rearrangement (VDJ)
    > low levels = decreased/absent T cells
45
Q

this picks up all forms of SCIDs early

A

TREC PCR

46
Q

supportive care for SCID

A

isolation
antibiotics
IVIg
irradiated blood products

47
Q

treatment for SCID

A

hematopoietic stem cell transplant

48
Q

factors that increases success of HSC transplant

A

early intervention <3.5 months
HLA identical
T cell depleted
no GVHD
lack of viral infection

49
Q

gene therapy with IL-2a and ADA

A

8/9 children alive after nine years

4 developed leukemia; 1 death
oncogene LMO2 switched on

MLSCI 475 (22 decks)

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