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Primary immunodeficiency Flashcards

1
Q

recurrent sinopulmonary bacterial infections

A

screen for humoral immunity deficiency

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2
Q

recurrent viral/fungal infections

A

screen for cellular immunity

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3
Q

skin abscess/fungal infections

A

screen for phagocyte defect

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4
Q

bacteremia or meningitis w encapsulated bacteria

A

screen for complement defect

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5
Q

Lab: differential count of blood cells

A

Screens for: T cells, B cell, or combined

look for: decreased numbers of T cells, B cells, or platelets

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6
Q

Lab: DTH skin test

A

Screens for: T cell defects

Look for: Negative = possible impaired T cell response

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7
Q

Lab: IgG, IgM, and IgA

A

screens for: humoral immunodeficiency

look for: decrease in any or all immunoglobulins

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8
Q

Lab: Ab testing to specific Ag after immunization

A

screens for: humoral immunodef.

look for: decrease or absent Ab response to vaccination

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9
Q

Lab: Total hemolytic complement assay

A

Screens for: complement deficiency

look for: decrease or absent components in classical pathway

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10
Q

Lab: nitroblue tetrazolium test

A

screens for: phagocytic disorder

look for: abnormal result

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11
Q

Adenosine Deaminase (ADA) deficiency

A 
- combined B/Tcell deficiency
absent or low IgG, IgA, IgM; T-, B-, NK-
autosomal recessive
second most common cause of SCID
ADA essential for metabolic function of various cells, especially T cells. ADA def leads to accumulation of deoxyadenosine (toxic for lymphocytes)
- HSCT is the treatment, 
avoid all live vaccines
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12
Q

Purine Nucleoside phosphorylase (PNP) Deficiency

A

T-, B+, NK+/- (decreased); normal IgG, IgA, IgM
- PNP deficiency leads to accumulation of intracellular deoxyguanosine triphosphate, toxic to lymphocytes leading to decreased peripheral T cells. B cells are normal
- autoimmune disorders commonly associated, including hemolytic anemia, thyroid disease, arthritis, lupus
- treatment: HSCT
avoid all live vaccines

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13
Q

Artemis Deficiency

A

T-, B-, NK+; absent or low IgG, IgA, and IgM
rare form of autosomal recessive radiosensitive SCID
- present with diarrhea, candidiasis, infections with opportunistic bacteria pneumocystis jivroveci
- absent T/B cells, normal NK
increased risk of developing lymphoma
- treatment: HSCT
Avoid all live vaccines

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14
Q

Rag1/Rag2 deficiency

A

T-, B-, NK+; absent or low IgG, IgA, IgM
autosomal recessive
-RAG defects cause impaired V(D)J recombination, leads to defective expression of pre-TCR and pre-BCR
- presents with diarrhea, candidiasis, and infections with opportunistic bact. Pneumocystis jiroveci
-leaky RAG1/RAG2 deficiency allows for partial function and leads to milder form called OMENN, severe erythroderma, splenomegaly, eosinophilia, high IgE

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15
Q

Deficiency of Jak3

A 
T-, B+, NK-; Very low IgG, IgA, IgM
autosomal recessive
Defect in IL-2 receptor signaling
- T cells heavily depend on signaling from Jak3, and IL2 uses as well --> T and NK cells unable to be replicated
Treatment: Definitive treatment
Avoid all live vaccines
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16
Q

DiGeorge Syndrome (DGS)

A

T-, B+, NK+; Normal IgG, IgA, IgM
T cell deficiency.
Results from microdeletion of 22q11.2 region
Classic triad: cardiac anomalies, hypocalcemia, and hypoplastic thymus (not completely developed thymus) leading to T cell disfunction. Humoral immunity in tact in most patients.
Frequent upper respiratory infections.
Live vaccines can be given if patients have CD8 T cell count above a certain threshold

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17
Q

Agammaglobulinemia

A

B-, T+, NK+; no IgG, IgM, IgA
X linked disease due to mutation in Bruton tyrosine kinase on X chrome (AR forms also exist, we are only talking about X linked)
B-cell development arrested at pre-B cell stage, defect in rearrangement of Ig heavy chain genes
diagnosis in 5-6 month old infants
treatment: HSCT

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18
Q

IgG subclass deficiencies

A

B+, T+, NK+; Some IgG subclasses low, normal IgM, IgA, IgE
caused by defects in several genes
may be asymptomatic, may be associated with recurrent viral/bacterial infections, frequently respiratory tract
low levels IgG2 assoc with poor response to polysaccharide Ags in children
IgG4 levels vary widely, many healthy people have no IgG4

19
Q

IgA deficiency

A

B+, T+, NK+; No IgA, normal IgG, IgM

  • higher in male patients, 50% are asymptomatic due to translocation of IgM across mucosal epithelium
  • 85% with recurrent infections of encapsulated bacteria
  • often develop autoimmune diseases and allergies
  • can get serum sickness after IVIG transfusion due to anti-IgA IgG –> non-IgE mediated Anaphylaxis
20
Q

Hyper IgM Syndromes (HIGM)

A

B+, T+, NK+; High IGM, low IgG and IgA
impaired class switching and somatic hyper mutation
- increased susceptibility to bacterial infection
X linked (CD40L) or Autosomal recessive (CD40)
*CD40L binds CD40 on B cells, triggers terminal differentiation associated with class switching and somatic hypermutation.
treatment: HSCT

21
Q

Transient hypogammaglobulinemia of infancy

A

B+, T+, NK+; low IgG/IgA, IgM normal or low
- maternal IgG disappears in infants after 6 months, intrinsic IgG production begins immediately after birth
BUT in transient hypogammaglobulinemia - intrinsic Ig production delayed for up to 36 months
- increased susceptibility to sinopulmonary infections
-usually normalizes within 2-4 years
- symptomatic treatment

22
Q

Common variable immune deficiency (CVID)

A

B-/+, T+, NK+; LOW IgG and IgA, sometimes low IgM
- heterogenous group of diseases assoc with hypogammaglobulinemia, defect in Ab production
- number of B cells reduced or normal
- mutations in receptors for B cell growth factors and costimulators
- recurrent pyogenic sinopulmonary infections
-often with recurrent infections, autoimmune disease, and lymphomas
autosomal recessive

23
Q

Common y chain Deficiency (yC or IL-2Ry)

A

T-, B+, NK-; Very low IgG, IgA, and IgE
most common form of SCID (45% of all cases)
X-linked recessive trait
- encodes Gamma chain shared by the T cell growth factor receptor (IL2Ry) and others. IL-2Ry shared with other cytokine receptors: IL-4, IL-7, IL-9, IL-15, IL-21
no functional B cells, T cells are unable to help. Results in Low Ig
- classically present with failure to thrive, sever thrush, opportunistic infections, and chronic diarrhea
HSCT definitive treatment
avoid all live viral vaccines

24
Q

IL-7Ra Chain deficiency

A

T-, B+, NK+; Very low IgG, IgA, IgE
autosomal recessive
- IL7 plays a role in early T cell development
- IgG, IgA, IgE low to absent despite presence of B cells because no T cell co-stim signaling
-present with classic SCID symptoms
HSCT definitive treatment
avoid all live vaccines

25
Q

Bare lymphocyte Syndrome Type 2 (BLS II)

A 
T+, B+, NK-; variable hypogammaglobulinemia
- rare autosomal recessive, HLA class II negative SCID
no MHC class II on professional APCs --> deficiency in CD4+ cells
- genes for MHC class 2 on chrome 6 are intact, the mutations occur in transcription factors that regulate MHC2 expression
recurrent respiratory, GI, and urinary infections, frequent death in early childhood
- HSCT definitive treatment
26
Q

MHC Class I deficiency

A

T+, B+, NK+
- mutation in TAP1 molecules to transfer peptides to ER
- CD8+ cells and NK cells are functionally deficient, causes recurring viral infections
- normal CD4+ cells, normal Ab production, normal DTH (delayed type hypersensitivity)
HSCT not recommended

27
Q

CD3 Complex deficiencies

A

T-, B+, NK+; low IgG, IgA, IgM

  • deficiencies of CD3 subunits can cause autosomal recessive form SCID
  • presents in infancy with lymphopenia and decreased T cells, normal B and NK
  • decreased specific antibody responses
  • HSCT indicated
28
Q

IPEX (immunodysregulation, polyendocrinopathy and enteropathy, X-linked syndrome)

A

self-reactive T effector cells are not inhibited, mutation in FOXP3 results in loss of inhibition by CD4+CD25 Treg Cell
HSCT is curative

29
Q

ALS (autoimmune lymphoproliferative syndrome)

A
  • defects in either Fas, FasL, Caspase 8, or Caspase 10, results in abrogated formation of death-inducing signaling complex (DISC) and resistance of effector T cells to apoptosis
30
Q

Wiskott-Aldrich Syndrome (WAS)

A

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

  • X linked disorder: thrombocytopenia, eczema, cellular and humoral immunodeficiency, autoimmune disease and malignancy
  • mutations in WASP
  • recurrent bacterial infections
31
Q

IFN-y-IL-12 Axis deficiency

A
  • positive regulatory loop
    Macrophages and DCs produce IL-12, binds to IL-12R and stimulates T and NK cells to release IFN-y
  • IFN-y binds with macrophage and cross link IFN-y receptor, activates production of H2O2 and TNF-a and IL-12
    -lead to increased susceptibility to nontuberculosis mycobacteria
  • mutations in genes encoding: IFN-y receptor, IL-12 receptor, p40 subunit of IL-12
32
Q

Defects in IL-12/IFN-y Pathway

A

IL-12 essential for differentiation of naive T cells into Th1 cells

  • mutations in IL-12 or IL-12R, do not produce Th-1 ctokine IFN-y, necessary for control of intracellular bacterial infections
  • present with selective susceptibility to intracellular pathogens
  • May also have defects in Th17 that account for recurrent fungal infections
33
Q

Th17 deficiency

A

Activation of innate immune responses by Candida through Prrs direct subsequent development of naive T cells into Th17 cells

  • unusual susceptibility to chronic mucocutaneous candidiasis
  • associated with mutations in genes for IL-17, IL-17R OR STAT1, STAT3, or AIRE
  • severe atopic disease (allergic), or recurrent staph aureus skin abscesses
34
Q

NK cell deficiency (NKD)

A

more than 40 known immunodef. to impair NK cells

  • to consider this, NK cells represent major immunologic abnormality
  • CLASSICAL NKD - absence of NK cells (ex. GATA2 deficiency with NK cell lymphopenia)
  • FUNCTIONAL NKD - presence of NK cells with defective NK cell activity (ex. perforin deficiency)
  • severe or disseminated viral infections, such as cytomegalovirus (CMV) and herpes (HSV)
35
Q

Chronic Granulomatous Disease (CGD)

A

granuloma = mass of immune cells forming at sites of infection or inflammation

  • most frequent phagocytic primary immunodeficiency , more common in males
  • enzymatic deficiency of NADPH oxidase in phagocytes, fail to generate superoxide anion and other O2 radicals
  • defective leimation of extracellular pathogens: bacteria and fungi
  • susceptible to recurrent infection with catalase-positive organisms (staphylococci)
36
Q

G6PD Deficiency

A

X-linked recessive genetic disease

  • associated with anemia, G6P is especially important in RBC metabolism (glycolysis)
  • lack of substrate for NADPH
  • similar manifestation to CGD and also can form granulomas
37
Q

Leukocyte Adhesion Deficiencies (LAD)

A
  • caused by mutations in CD18 gene - defective or deficient beta2 integrin
  • neutrophil count is twice the normal even without ongoing infection.
  • neutrophils unable to aggregate, do not bind to intercellular adhesion molecules on endothelial cells (necessary for egress from vasculature to transport to sites of inflammation)
  • infected foci contain few neutrophils and heal slowly, enlarging borders and dysplastic scars
  • delayed detachment of umbilical cord, slow wound healing, severe bacterial infections, failure to form pus
  • early death, poor prognosis
    flow cytometric assessment of neutrophil adhesion molecules CD11 and CD18
38
Q

Chediak-Higashi Syndrome

A

Autosomal recessive
wheelchair-bound and die of infection in their early 30s
- the structure of neutrophil granule appears as abnormal giant granules - do not contain cathepsin G and elastase
- manifested as abnormalities in chemotaxis and degranulation
- prone to recurrent pyogenic granulomas caused by staphylococci and streptococci
- blunted neutrophilia due to delayed diapedisis
biphasis immunodeficiency (1st-susceptibility to infections, 2nd-accelerated lymphoproliferative syndrome with hepatosplenomegaly and lymphadenopathy after 25-30 years)
- azurophilic GIANT cytoplasmic inclusions in blood cells, partial albinism, no NK activity

39
Q

CP immunodeficiencies

A

CP responsible for rapid clearance of immune complexes, apoptotic cells and cell debris from damaged tissues

  • primary C1 and C4 deficiency linked to development of systemic lupus erythematosus (SLE) or rheumatoid arthritis (RA)
  • without complement, debris complexes grow too large to be easily cleared, no longer soluble and form deposits in the tissues - site of inflammation
  • *Primary C2 deficiency is most common complement in caucasian populations - found in young children with recurrent S. pneumoniae infections
40
Q

MAC deficiencies (C8 mostly)

A

autosomal recessive
- increased susceptibility to Neisserial infections
-could be inherited, acquired, or due to complement consumption d/t chronic complement activation by ongoing infection
*diagnosis: absent C8 levels in presence of normal C3 and C4 - consistent with C8 def
absence of C8 in presence of low C3 and C4 - suggest complement consumption

41
Q

Hereditary Angioedema (HAE)

A

deficiency of CP control protein (C1-INH)

  • recurrent swelling in extremities, face, lips, larynx, or GI
  • byproduct of kinin-generating pathway. Production of bradykinin through the pathway –> tissue permeability
  • acute treatments include C1 inhibitor, a replacement therapy
42
Q

Paroxysmal Nocturnal Hemoglobinuria (PNH)

A

Failure to regulate formation of MAC

  • somatic mutation causes deficiency of glycosylphosphatidylinositol (GPI)
  • PNH cells lack all proteins linked through GPI anchor to their cellular membranes
  • most important DAF (CD55) and CD59. Complement regulatory proteins involved in protecting RBC from complement
  • causes intravascular hemolysis
43
Q

Deficiency of TLRs

A

MyD88 deficiency - impaired signaling for all TLRs except TLR3 (MyD88 independent)
- abnormally frequent and severe infections caused by pyogenic bacteria
- normal resistance to other common pathogens
- characteristically lack fevers and elevated ESR/CRP despite active infection
low levels of TNF-a, IL-1, and IL-6 during infection

**TLR3 deficiency is autosomal dominant disorder, leads to increased susceptibility to HSV encephalitis

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