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primary immunodeficiency Flashcards

1
Q

common consequences of B cell deficiencies? what causes them?

A

bacterial and viral infections

absent or reduced follicles and germinal centers
reduced IG

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2
Q

common consequences of T cell deficiencies? what causes them?

A

Viral and Intracellular infections, cancers

some cancers

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3
Q

common consequences of innate immune deficiencies? what causes them?

A

viral and bacterial infections

deficiencies in innate immunity

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4
Q

infections due to immunodeficiencies?

when can they arise and what are the symptoms?

A

may arise at ANY AGE

-they are often chronic, severe, or recurrent
- they are not responsive well to an ANTIBIOTIC THERAPY
- MICROBES involved may be atypical which normally do
not often seen in clinical practice
-OPPORTUNISTIC infections!!

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5
Q

OPPORTUNISTIC ORGANISMS? significance?

A

pathogens have low virulence

Opportunistic infections occur when host defenses are
immunocompromised

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6
Q

Primary Immune

Deficiencies? when do they come and why?

A

clinically manifested during the FIRST YEARS OF LIFE when maternal IgGdisappear after 6 months. Prior to that moment, PIDs usually are not detected in
the NEWBORN

Newborn and infants with PIDs suffer from RECURRENT and PROTRACTED
INFECTIONS which leads to diagnosis of PIDs

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7
Q

What are PID? what causes them?

A

-Defects in innate immunity
» Deficiencies of phagocytosis
» Deficiencies of complement

– Defects in adaptive immunity
» Antibody deficiencies (B cells)
» Deficiencies of T-cells
» Combined T- and B-cell deficiencies

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8
Q

what are the signs of IDs?

A

Eight or more ear infections in one year.
• Two or more serious sinus infections in one year.
• Two or more bouts of pneumonia in one year.
• Two or more deep-seated infections, or infections in unusual areas.
• Recurrent deep skin or organ abscesses.
• Need for iv antibiotic therapy to clear infection.
• Infections with unusual or opportunistic organisms.
• Family history of primary immunodeficiency.

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9
Q

Suspected PID? what do you do?

A

-Serum IgG, IgM, and IgA, Ab testing to specific Ag
after immunization: Screen humoral immunity

-Differential count of blood
cells, DTH skin test: Screen cellular
immunity

-Nitroblue tetrazolium test: Screen for phagocyte
defect

-Total hemolytic complement
assay: Screen for complement
deficiency

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10
Q

What factors lead to VDJ recombination?

A

RAG1, RAG2, Artemis

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11
Q

Pre BCR to immature B? what do we need?

A

RTK

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12
Q

How are CD8 T cells made?

A

Zap70, Tap 1 and 2

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13
Q

SEVERE COMBINED IMMUNODEFICIENCY? how is it diagnosed and reason?

A
  • 4–6 months of age with severe persistent
    infections, oral thrush, chronic diarrhea, and failure to thrive

-affected infants have a permanent profound T-cell
lymphopenia with or without reduced numbers of circulating B cells and natural killer (NK) cells

-T-cell mitogens are depressed and T-cell
receptor levels are low or undetectable

  • placed in protective isolation and offered hematopoietic stem cell
    transplantation
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14
Q

What Igs and cell components are low in SCID? what are the consequences?

A

IgG, IgM, and IgA

profound DEFICIENCIES of
T-cell and B-cell functions

at RISK of abortion due to INABILITY to reject the
maternal T cells

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15
Q

what does adenosine deaminase do?

A 
converts toxic for
lymphocytes
deoxyadenosine into
deoxyinosine, which is
not harmful.
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16
Q

what does artemis do?

A 
enzyme in VDJ
recombination and
serves to repair
double strand
breaks.
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17
Q

what is it called? what happens

adenosine deaminase deficiency

A

t-b-nk-?
Low IgG, IgA, and IgM
AUTOSOMAL RECESSIVE disorder, most common cause of scid

ADA deficiency leads to an ACCUMULATION of toxic for lymphocytes
metabolic by-products deoxyadenosine

ADA is essential for the METABOLIC FUNCTION of various cells,
especially T-cells

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18
Q

t-b-nk+? what is it called?

A

artemis deficiency

rag1rag2 deficiency

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19
Q

what is called and what happens?

Purine Nucleoside Phosphorylase (PNP) Deficiency

A

t-b+nk+/-

Normal IgM, IgG, and IgA
ACCUMULATION of intracellular deoxyguanosine
triphosphate (dGTP). This metabolite is toxic to lymphocytes, leading to a
DECREASE in peripheral T cell numbers.

EARLY ONSET NEUROLOGICAL ABNORMALITIES

AUTOIMMUNE DISORDERS are also common and include hemolytic anemia,
thyroid disease, arthritis, lupus

HSCT is the definitive TREATMENT for PNP deficiency patients

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20
Q

Artemis Deficiency? what is it called and what happens?

A

T-,B-,NK+
Low IgG, IgA, and IgM

AUTOSOMAL
RECESSIVE RADIOSENSITIVE SCID: Native Americans!

diarrhea, candidiasis, and
Pneumocystis jiroveci fungus, radiosensitivity!

increased risk of developing
lymphomas

HSCT

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21
Q

RAG1/RAG2

Deficiency? what is it called and what happens?

A

T-,B-,NK+
Low IgG, IgA, and IgM

AUTOSOMAL RECESSIVE
disorder causing SCID

IMPAIRED V(D)J RECOMBINATION and
this leads to defective expression of the pre-TCR and pre-BCR

diarrhea, candidiasis, and
Pneumocystis jiroveci pneumonia.

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22
Q

Omenn syndrome?

A

Leaky RAG1/RAG2 defects allow for partial function of RAG1/RAG2
can give rise to an atypical form of SCID

evere erythroderma,
splenomegaly, eosinophilia, and high IgE

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23
Q

Deficiency of Jak3? what happens what does it do?

A

T-,B+,NK+
Very low IgG, IgA, and IgM

MUTATION in a gene that encodes a
lymphocyte Janus kinase 3 (Jak3)

AUTOSOMAL RECESSIVE trait
BOYS and GIRLS can be equally affected

Causes DEFECT in IL-2 receptor signaling

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24
Q

what is the relevance of antibody deficiencies ?

A

most common immune deficiency

state in infants and children, accounting for nearly half of all conditions

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25
Q

Agammaglobulinemia? what is it and what does it do?

A

inherited as an X-linked
trait, but autosomal recessive (AR) forms also exist

B-CELL DEVELOPMENT is arrested at the pre-B-cell stage
circulating B cells are usually absent or present in very low numbers

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26
Q

X-linked Btk

Kinase Deficiency, what is it and what does it do?

A

B –, T + , NK +
No IgG, IgM, IgA

X-LINKED disorder

DEFECT in rearrangement of the Ig heavy chain genes

IgG, IgA, IgM are totally absent or very low

5-6-month old infants diagnosis

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27
Q 
Isolated IgG
Subclass Deficiencies, what is it and what does it do?
A

B –, T + , NK +
Some IgG subclasses LOW; normal IgM, IgA, IgE

decreased CONCENTRATIONS of one or more IgG
subclass.
DEFECTS in several genes

usually asymptomatic but may
be associated with RECURRENT VIRAL/BACTERIAL INFECTIONS,
frequently involving the respiratory tract.

Low levels of IgG2 are frequent associated with poor responses to
polysaccharide Ags in children

IgG4 levels vary widely and many healthy people have no IgG4

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28
Q

IgA Deficiency? what is it and what doe it do?

A

B +, T + , NK +
No IgA; normal IgG & IgM
higher in male patients
often develop AUTOIMMUNE DISEASES and ALLERGY

THE INCIDENCE is relatively high
Most affected individuals HEALTHY. Multiple genes are involved

IgA secreting B cells may have disorders of
maturation or terminal differentiation

titers of IgA is undetectable or very low, IgG and IgM are
normal. In some patients, IgA is synthesized but not secreted

Patients with undetectable IgA levels may have serum anti-IgA IgG
linked to the development of non-IgE mediated
ANAPHYLAXIS in response to an intravenous immunoglobulin (IVIG) transfusion

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29
Q

DiGeorge Syndrome? what is it and what does it do?

A

T -, B +, NK +
Normal IgG, IgA, and IgM
T-cell deficiency!!

MICRODELETION of 22q11.2 region containing more
than 35 genes

THE CLASSIC TRIAD:cardiac anomalies, hypocalcemia, and hypoplastic thymus

HUMORAL IMMUNITY is intact in most patients!!!!

frequent upper respiratory infections

LIVE VIRAL VACCINES are generally given to patients who have a CD8 T-cell
count > 300 cells/mm3

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30
Q

Hyper IgM

Syndromes (HIGM), what are they and what do they do?

A

B +, T + , NK +
High IgM; low IgG & IgA

impaired Ig class switching and
somatic hypermutation

NORMAL numbers of peripheral B cells, but LOW
numbers of CD27-positive memory B cells

increased SUSCEPTIBILITY TO
BACTERIAL INFECTION

issue in CD40L gene!! binds CD40 expressed on B cells triggers terminal differentiation of B cells

X-LINKED CD40L DEFICIENCY (male only) is responsible for 2/3 of all
cases of HIGM

AUTOSOMAL CD40 DEFICIENCY (female and male) deficiency accounts
for 1/3 of cases of HIGM

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31
Q

Transient
Hypogammaglobulinemia
of Infancy, what is it and what does it do?

A

B +, T + , NK +
Low IgG/IgA ; IgM normal or low

Ig production
is delayed for up to 36 months in infants

low IgG and IgA concentrations, but IgM concentration may be NORMAL or LOW

INCREASED SUSCEPTIBILITY to sinopulmonary
infections.

normalize between 2 and 4

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32
Q

Common Variable Immune

Deficiency (CVID), what is it and what does it do?

A

B –/+, T + , NK +
LOW IgG and IgA; sometimes low IgM

hetergenous DEFECTs in
Ab production associated with
HYPOGAMMAGLOBULINEMIA

mutations in receptors for B cell growth factors
(maturation/activation) and costimulators

recurrent pyogenic sinopulmonary
infections

NUMBER of circulating B cells is
reduced or normal.

B cells fail to differentiate into plasma
cells which secrete Abs

CVID are at an INCREASED RISK of infections,
autoimmune diseases, and malignancies

AUTOSOMAL DISORDER - both males and females are equally affected

33
Q

Humoral

Immunity Screen?

A

measure IG levels

QUANTITATIVE
IMMUNOGLOBULIN LEVELS normal?
-Consider complement,
phagocytic defect, other
conditions

QUANTITATIVE
IMMUNOGLOBULIN LEVELS abnormal?
-Screen cellular immunity

Screen cellular immunity abnormal? 
-Consider diagnosis of
Common variable
immunodeficiency
(CVID)

Screen cellular immunity normal?

  • Consider diagnosis of:
    1. X-linked agammaglobulinemia
    2. Isolated IgA or IgG
    3. Hyper IgM
34
Q

T-CELL IMMUNODEFICIENCY manifestations?

A

extreme susceptibility to opportunistic
infections or disorders featuring predominately autoimmunity or
predisposition to cancer

35
Q

Common g Chain Deficiency

(gc or IL-2Rg), what is it and what does it do?

A

Very low IgG, IgA, and IgM
T -, B +, NK -

MOST COMMON form of SCID X-LINKED RECESSIVE
GAMMA-CHAIN shared by the T-cell growth factor
receptor (IL-2Rg) and other growth factor receptors

no functional B cells since T-cells unable to “help”

failure to thrive,
severe thrush, opportunistic infections, and chronic diarrhea

36
Q

IL-7R Alpha Chain Deficiency? what is it and what happens?

A

T -, B +, NK +
Very low IgG, IgA, and IgM

AUTOSOMAL RECESSIVE

IL-7 plays a KEY ROLE in early T cell development

IMMUNOGLOBULIN are low to absent despite the presence of B cells due to absence of T cell co-stimulatory signaling

candidiasis, chronic diarrhea, Pneumocystis jiroveci pneumonia, severe viral infections

Sequencing of the IL-7R gene can confirm the diagnosis

37
Q

Bare Lymphocyte

Syndrome Type 2 ? what is it and what does it do?

A 
CD4 T -, CD8 T +, B +, NK -
rare AUTOSOMAL RECESSIVE GENETIC disorder causing an HLA class IInegative SCID
 no MHC class II expression on professional APCs that causes a
DEFICIENCY in CD4+ T cells

MUTATIONS are in genes which encode for transcription factors that normally
regulate the expression of the MHC II genes

MHC class II genes on chromosome 6 are intact

Variable HYPOGAMMAGLOBULINAEMIA (mainly IgA and IgG2).

RECURRENT respiratory, gastrointestinal, and urinary tracts
infections and frequently to death in early childhood

38
Q

MCH Class I Deficiency? what is it and what does it do?

A

TAP1 molecules to transfer peptides to ER

CD8+ cells are deficient that
causes recurring viral infections

CD4+ cells are normal.
• Normal Ab production .
• Normal DTH

39
Q

CD3 Complex

Deficiencies, what is it and what happens?

A

T -, B +, NK +
Low IgG, IgA, and IgM
AUTOSOMAL RECESSIVE form of SCID

Deficiencies of the CD3 SUBUNITS (delta, gamma, epsilon, or zeta)

PRESENTS IN INFANCY with lymphopenia and decreased T cell numbers. B cell and NK cell numbers are normal

ANTIBODY RESPONSES are typically decreased

failure to thrive, opportunistic
infections, and chronic diarrhea

HSCT is indicated for patients who have a severe T-B+NK+ SCID phenotype

40
Q

Defect in the IFN-g–IL-12 AXIS? what is it and what happens?

A

POSITIVE REGULATORY LOOP

IL-12 Produced by Mf and DCs
binds to IL-12R stimulates IFN-g
release by T cells and NK cells

Binding of IFN-g by Mf crosslink the IFNgR and activate the
production of H2O2 and TNF-a and IL-12

Mutations resulting in increased SUSCEPTIBILITY to nontuberculous mycobacteria
have been identified in the genes encoding:
– the IFN-g receptor
– the IL-12 receptor
– the p40 subunit of IL-12.

41
Q

Defects in IL-12/IFN-g Pathway? what is it and what happens?

A

IL-12 signaling is ESSENTIAL FOR THE DIFFERENTIATION of naïve T cells into Th1 cells

MUTATIONS in the IL-12 or IL-12R genes result in a clinically limited primary immunodeficiency

Patients with IL-12 or IL-12R deficiency do not produce Th1 cytokine IFN-g
which is necessary for the control of intracellular bacterial infections

SELECTIVE SUSCEPTIBILITY to intracellular
pathogens such as atypical mycobacteria

also have defects in formation of IL-17
producing Th17 cell that accounts for the recurrent fungal infections

42
Q

Th17 Deficiency, what is it and what happens?

A

UNUSUAL SUSCEPTIBILITY to chronic mucocutaneous
candidiasis

h MUTATIONS in
genes encoding for either IL-17, IL-17R, or transcriptional factors STAT1, STAT3 or AIRE.

43
Q

IPEG, what is it and what happens?

A

defect in tcell function

,SELF-REACTIVE T EFFECTOR CELLS ARE NOT INHIBITED,

because of a
mutation in the FOXP3
results in loss of inhibition by CD4+CD25+ Treg cell

44
Q

ALPS, what is it and what happens?

A

defects in
either Fas, FasL, caspase-8 or caspase-10 genes results in

abrogated formation of the
death-inducing signaling complex (DISC) and resistance of effector T cells to apoptosis.

45
Q

Wiskott-Aldrich Syndrome (WAS), what is it and what happens?

A

T -, B +, NK -
Low IgM; normal Ig, elevated IgA and IgE

X-LINKED DISORDER
MUTATIONS in the Wiskott-Aldrich Syndrome Protein
(WASP)

thrombocytopenia, eczema,
cellular and humoral immunodeficiency, autoimmune disease, and malignancy

COMBINED IMMUNODEFICIENCY

-Decreased IgM, normal IgG, and elevated IgA and IgE levels
– T cell lymphopenia
– Decreased NK cell cytotoxicity

RECURRENT BACTERIAL INFECTIONS with encapsulated
bacteria

46
Q

NK Cell Deficiency (NKD), what is it and what happens?

A

40 IMMUNODEFICIENCIES known to impair NK cells

NK cells should represent the major immunologic
abnormality in the patient

MUTATIONS in multiple genes

Classical NKD,Functional NKD

multiple severe or disseminated viral infections

47
Q

Classical NKD?

A

defined as an absence of NK cell

48
Q

Functional NKD?

A

defined as the presence of NK cells

exhibiting defective NK cell activity without NK cell lymphopenia

49
Q

Cellular

Immunity Screen? when do we do it

A

CBC/differential + chest X-ray – if no thymus – consider DiGeorge syndrome;
SCID (especially Absolute Lymphocyte Count)

If the tcell panel is abnormal
-Functional testing
-B cell/NK cell
CD marker studies

if those are abnormal:
SCID – do DNA testing or specific
enzyme defect
Complete DiGeorge syndrome

50
Q

Leukocyte adhesion deficiency:

cellular abnormality?
immune defect?
associated infections?

A

defective CD18

defective migration of phags into tissues

widespread infections with capsule bacteria

51
Q

chronic granulomatous disease:

  1. cellular abnormality?
  2. immune defect?
  3. associated infections?
A
  1. defective NADPH oxidase
  2. impaired killing of phagocytosed bacteria,FAIL to generate superoxide anion
  3. chronic bacterial and fungal infections,susceptible to RECURRENT INFECTION with catalase positive organisms

tendency to form granulomas
MOST FREQUENT phagocytic primary immunodeficiency

52
Q

G6PD deficiency

  1. cellular abnormality?
  2. immune defect?
  3. associated infections?
A
  1. G6PD deficiency, respiratory burst not working, substrate for NADPH not there
  2. impaired killing of phagocytosed bacteria
  3. chronic bacterial and fungal infections, anemia by certain agents

X-LINKED RECESSIVe, associated with anemia, mostly asymptomatic

53
Q

Myeloperoxidase deficiency

cellular abnormality?
immune defect?
associated infections?

A

Myeloperoxidase deficienct in granules, production of toxic oxygen species

impaired killing of phagocytosed bacteria

chronic bacterial and fungal infections

54
Q

Chediak Higashi syndrome?

  1. cellular abnormality?
  2. immune defect?
  3. associated infections?
A
  1. defect in vesicle fusion
  2. impaired phagocytosis, endosome cant fuse with phagosome
  3. recurrent and peristent bacterial infections, granulomas

AUTOSOMAL RECESSIVE

ABNORMALITIES in chemotaxis and degranulation

GRANULES do NOT contain cathepsin G and elastase, abnormal giant granules

PATIENTS become wheelchair-bound and usually die of infection in their early 30s

55
Q

Leukocyte Adhesion Deficiency (LAD), what is it and what happens?

A

without the ongoing infection, NEUTROPHIL COUNT in the blood is about twice the normal level

RECURRENT INFECTIONS of the oral and genital mucosa, skin, and intestinal and respiratory tracts

NEUTROPHILS in patients with LAD are unable to aggregate

defect in adhesion and targeting to sites of microbial invasion

Neutrophils do not bind to INTERCELLULAR ADHESION molecules on endothelial cells

INFECTED FOCI contain few neutrophils and heal slowly

56
Q

Molecular defects in LADs result in what?

A

– recurrent infections with bacteria and fungi

– inability to form pus at extravascular sites

57
Q

what is LAD1 caused by?

A

mutations in the gene for the
b2 integrins (CD11/CD18), resulting in their
decreased or absent levels on leukocytes

58
Q

what is LAD2 caused by?

A

impaired adhesive functions of PSGL1 (P-selectin glycoprotein ligand 1) caused by
MUTATIONS in a fucose transporter and
consequent defective fucosylation of PSGL-1.

59
Q

What is LAD3 caused by?

A

, there is DEFECTIVE activationdependent SIGNALING of b2 integrins resulting
in adhesion defects similar to those in LAD-1.

60
Q

What is LAD caused by? clinical manifestations and prognosis?

A

DEFECTIVE MIGRATION of leukocytes

manifestations?:
– Delayed detachment of the umbilical cord
– Slow wound healing
– Severe bacterial infections
– Failure to form pus

– the outcome is poor with EARLY DEATh

61
Q

what does LAD workup involve?

A

FLOW CYTOMETRIC ASSESSMENT of the neutrophil

adhesion molecules CD11 and CD18

62
Q

What is Chediak-Higashi caused by? how many phases? what is the diagnosis?

A 
recurrent pyogenic GRANULOMAS caused by
bacteria infections (staphylococci and streptococci)

blunted NEUTROPHILIA and
due to delayed diapedesis

diphasic:
» First phase – succesptibility to INFECTIONS.
» Second phase – an accelerated
LYMPHOPROLIFERATIVE SYNDROME with
hepatosplenomegaly and lymphadenopathy

diagnosis:
– azurophilic GIANT cytoplasmic INCLUSIONS in blood cells
– Partial ALBINISM (defect in growth of melanocytes)
– NO NK activity

63
Q

Phagocyte Defect Screen? what does it do and what is it used for?

A

check for Chediak-Higashi syndrome

Recurrent skin abscesses and/or fungal infections

64
Q

What does C1, C4 and C2 manifest as?

A

lupus erythematosus-like AUTOIMMUNITY

recurrent sinopulmonary infections

65
Q

DEFECTS IN C3 manifest as?

A

INDISTINGUISHABLE
from ANTIBODY DEFICIENCIES, although this complement deficiency is markedly less frequent than humoral ab-dependent immunodeficiencies

66
Q

Defects in the LATE COMPONENTS of complement manifest as?

A

INCREASED SUSCEPTIBILITY to infections with Neisseria species

67
Q

ALTERNATIVE COMPLEMENT pathway defects, what happens and how does it manifest?

A

-deficiencies Properdin, factor B and factor D cause

infections caused by Neisseria meningitis and other extracellular bacteria

-FACTOR H DEFICIENCY

atypical hemolytic uremic
syndrome or glomerulonephritis

68
Q

C1 ESTERASE INHIBITOR what happens?

A

hereditary angioedema, complement issue

RECURRENT SWELLING in the extremities, face, lips, larynx or GI tract

involves not the complement
enzymes, but a byproduct of the kinin-generating pathway

production of BRADYKININ through this pathway that is responsible for
the tissue permeability changes that cause the swelling

Acute TREATMENTS include C1 inhibitor, a replacement therapy

69
Q

DECAY-ACCELERATING FACTOR defects?

A

paroxysmal nocturnal hemoglobinuria

70
Q

Primary C1 and C4 DEFICIENCY is linked to what?

A

development of systemic lupus
erythematosus (SLE) or rheumatoid arthritis (RA).

-Small complexes are cleared from the circulation when they bind to
complement receptors on RBCs

-Without complement, the complexes can grow too large to be easily cleared

-These large complexes are no longer soluble, and form deposits in the tissues
and become a site of inflammation

71
Q

C2 DEFICIENCY significance?

A

most common complement deficiency in Caucasian
populations (1 in 10,000 to 1 in 20,000).
– found in young children who have recurrent infections with Streptococcus pneumoniae

72
Q

C8 Complement Deficiencies? significance, causes, symptoms

A

AUTOSOMAL RECESSIVE

deficiencies of the late complement proteins

INCREASED SUSCEPTIBILITY to Neisserial infections.

THE CAUSE of low levels of C8 may:
– inherited deficiencies
– acquired deficiencies
– due to complement consumption

DIAGNOSIS:
– Absent C8 levels in the presence of normal C3 and C4 values
are consistent with a C8 deficiency.
– Absent C8 levels in the presence of low C3 and C4 values
suggests complement consumption.

73
Q

What is HAE, what causes it and what happens?

A

painful, swelling recurrently in body

C1 Inh not working properly
-increases bradykinin, causing swelling

3 types of swelling:

  1. peripheral
  2. abdominal
  3. episodes that make breathing difficult
74
Q

Paroxysmal Nocturnal

Hemoglobinuria , what happens and why?

A

FAILURE to regulate the formation of the MAC.

SOMATIC MUTATION causes a deficiency of
glycosylphosphatidylinositol

CD55 and CD59 are complement regulatory proteins involved in protecting the red blood cells from the action of complement

CAUSE of intravascular hemolysis in these patients is the increased susceptibility of red cells to complement

75
Q

what does CD59 do?

A

inhibits the

formation of the MAC by binding to sites on C8 and C9

76
Q

what does DAF (CD55) do?

A

inhibits C3 and C5 convertases

77
Q

what is TLR caused by and what happens?

A

MyD88 DEFICIENCY is an innate immune deficiency that results in impaired signaling for all TLRs but TLR3

frequent and SEVERE INFECTIONS caused by
pyogenic bacteria

NORMAL RESISTANCE to other common
bacteria, viruses, fungi, and parasites

characteristically lack FEVERS and elevated levels of ESR/CRP despite active
infection

levels of PROINFLAMMATORY TNF-a, IL-1, and IL-6 are LOW

78
Q

what is the significance of TLR3 deficiency?

A

autosomal dominant disorder

which results in INCREASED
SUSCEPTIBILITY to HSV encephalitis

SFM final exam (1 decks)

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