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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

24
Q

most common primary immune deficiency

A

IgA deficiency

25
define IgA deficiency
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
treatment of IgA deficiency
antibiotics for bacterial infections *prevention is KEY = handwashing*
27
X-linked hyper IgM
- Xq26 - no CD40L on T cells - low IgG,A,E, but **increased IgM**
28
X-linked hyper IgM clinical presentations
neutropenia thrombocytopenia granulopoiesis requires CD40L pneumonia early in life = pneumocystis, Cryptococcus, CMV
29
X-linked hyper IgM treatment
IVIg
30
presentation of SCID
- 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
symptoms of SCID
failure to thrive recurrent infections at 3-6 mos - rash, diarrhea, skin and sinopulmonary infections, abscesses, poor wound healing lymphopenia hypothymia
32
common organisms that infect babies
Staph Strep Haemophilus Candida
33
opportunistic infections that can lead to death for babies with SCID
C. albicans Pneumocystis jirovecii varicella adenovirus RSV parainfluenza 3 CMV EBV
34
causes of SCID
mutation affecting T cells with or without B and NK involvement T-B-NK- T-B+NK+ T-B-NK+
35
most common cause of SCID
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
Adenosine deaminase deficiency (ADA)
- 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
treatment for ADA
ADA and PEG injections given as co-treatment
38
IL-7Ra
- 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
causes of SCID
SCID-X1 ADA IL-7a JAK3 ZAP70 RAG1/RAG2 CD45
40
JAK3 as a cause of SCID
impaired signalling during hematopoiesis T-B+NK-
41
ZAP 70 cause of SCID
impaired signalling of TCR T-B+NK+ (normal T4+ but absent T8+)
42
RAG1/RAG2 cause of SCID
no TCR or immune globulin rearrangement T-B-NK+
43
CD45 cause of SCID
impaired T and B cell receptor signal transduction T-B-NK+
44
TREC PCR
- newborn metabolic screening - T-cell receptor excision circles > circular DNA fragments > byproducts of TCR gene rearrangement (VDJ) > low levels = decreased/absent T cells
45
this picks up all forms of SCIDs early
TREC PCR
46
supportive care for SCID
isolation antibiotics IVIg irradiated blood products
47
treatment for SCID
hematopoietic stem cell transplant
48
factors that increases success of HSC transplant
early intervention <3.5 months HLA identical T cell depleted no GVHD lack of viral infection
49
gene therapy with IL-2a and ADA
8/9 children alive after nine years 4 developed leukemia; 1 death *oncogene LMO2 switched on*

MLSCI 475 (22 decks)

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