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PID Flashcards

1
Q

What are the 8 warning signs of immunodeficiency disorder?

A
  • 8+ ear infections in 1 year
  • 2+ serious sinus infections in 1 year
  • 2+ pneumonia infections in 1 year
  • 2+ 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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2
Q

Percentages of PID’s:

  • humoral B cell:
  • combined B and T cell:
  • phagocytic:
  • cellular T cell:
  • complement:
A
  • humoral B cell: 50%
  • combined B and T cell: 20%
  • phagocytic: 18%
  • cellular T cell: 10%
  • complement: 2%
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3
Q

If a patient has recurrent sinopulmonary bacterial infections, what branch of the immune system should you screen?

A

humoral immunity

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4
Q

If a patient has recurrent viral and/or fungal infections, what branch of the immune system should you screen?

A

cellular immunity

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5
Q

If a patient has recurrent skin abscesses and/or fungal infections, what branch of the immune system should you screen?

A

phagocyte defect

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6
Q

If a patient has bacteremia or meningitis with encapsulated bacteria, what branch of the immune system should you screen?

A

complement deficiency

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7
Q

Testing for PID

  • lab test: differential count of blood cells (CBC)
  • screens for:
  • what to look for:
A
  • T cell, B cell, T/B cell defects
  • decreased numbers of T cells, B cells, or platelets
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8
Q

Testing for PID

  • lab test: DTH skin test
  • screens for:
  • what to look for:
A
  • T cell defects
  • negative or possible impaired T cell response
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9
Q

Testing for PID

  • lab test: serum IgG, IgM, or IgA
  • screens for:
  • what to look for:
A
  • humoral immunodeficiency
  • decrease in any or all immunoglobulins
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10
Q

Testing for PID

  • lab test: antibody testing to specific antigen after immunization
  • screens for:
  • what to look for:å
A
  • humoral immunodeficiency
  • decrease or absent antibody response to vaccination
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11
Q

Testing for PID

  • lab test: total hemolytic complement assay
  • screens for:
  • what to look for:
A
  • complement deficiency
  • decrease or absent components in classical pathway
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12
Q

Testing for PID

  • lab test: nitroblue tetrazolium test
  • screens for:
  • what to look for:
A
  • phagocytic disorder
  • abnormal test result
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13
Q

What are the 3 main deficiencies present in B, T, and NK cell development that may lead to SCID’s?

A
  • adenosine-deaminase deficiency: ADA converts toxic deoxyadenosine into deoxyinosine, which is not harmful
  • artemis gene-product deficiency: artemis is an enzyme in VDJ recombination that serves to repair double strand breaks
  • RAG1 and RAG2 deficiency: enzymes necessary for recombination
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14
Q
  • this condition is a/w profound deficiencies of T cell and B cell functions, and sometimes NK cell function
  • typically a/w severe lymphopenia
  • characterized by severe opportunistic infections (chronic diarrhea, failure to thrive)
  • fetus with this condition is at risk of abortion due to inability to reject the maternal T cells that may cross the placenta into fetal circulation
  • patients with this condition should avoid all live vaccines
A

severe combined immune deficiencies (SCID’s)

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15
Q
  • the first immunodeficiency in which the specific molecular defect was indentified
  • autosomal recessive disorder
  • absent or low IgG, IgA, and IgM
  • immunophenotype: T-, B-, NK-
  • second most common cause of SCID (15%)
  • this enzyme is essential for metabolic function of various cells, especially T cells
  • this deficiency leads to accumulation of toxic (for lymphocytes) deoxyadenosine
  • tx: hematopoietic stem cell transplantation (HSCT)

(avoid all live viral vaccines)

A

adenosine deaminase (ADA) deficiency

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16
Q
  • rare, autosomal recessive condition that accounts for 4% of all SCID cases
  • normal IgG, IgA, and IgM levels
  • immunophenotype: T-, B+, NK+/-
  • leads to accumulation of intracellular deoxyguanosine triphosphate (dGTP), toxic for lymphocytes, leading to decrease in peripheral T cell numbers, but B cell numbers are normal
  • onset can occur during infancy (classic SCID phenotype) or later in life with a milder form
  • autoimmune disorders also caused by this deficiency: hemolytic anemia, thyroid dz, arthritis, lupus
  • tx: HSCT

(avoid all live viral vaccines)

A

purine nucleoside phosphorylase (PNP) deficiency

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17
Q
  • rare, autosomal recessive radiosensitive cause of SCID
  • absent or low IgG, IgA, and IgM
  • immunophenotype: T-, B-, NK+
  • presentation occurs in infancy: diarrhea, candidiasis, opportunistic infections (pneumocystis jiroveci)
  • T and B cells are absent, NK cells are normal
  • patients at increased risk of developing lymphomas
  • dx: immunophenotype and radiosensitivity
  • tx: HSCT

(avoid all live viral vaccines)

A

artermis deficiency

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18
Q
  • rare, autosomal recessive disorder causing SCID
  • absent or low IgG, IgA, and IgM
  • immunophenotype: T-, B-, NK+
  • causes impaired V(D)J recombination, leads to defective expression of pre-TCR and pre-BCR
  • presentation occurs in infancy: diarrhea, candidiasis, opportunistic infections (pneumocystis jiroveci)
  • leaky defects: partial function of RAG1/RAG2 and leads to Omenn syndrome: severe erythroderma, splenomegaly, eosinophilia, and high IgE
  • tx: HSCT

(avoid all live viral vaccines)

A

RAG1/RAG2 deficiency

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19
Q
  • autosomal recessive trait that leads to 7% of all SCID cases (boys and girls equally affected)
  • very low IgG, IgA, and IgM
  • immunophenotype: T-, B+, NK-
  • causes defect in IL-2 receptor signaling
  • tx: HSCT

(avoid all live viral vaccines)

A

Janus kinase 3 (Jak3) deficiency

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20
Q
  • classic example of T cell deficiency
  • normal IgG, IgA, and IgM
  • immunophenotype: T-, B+, NK+
  • most cases result from deletion of 22q11.2 region (contains 35 genes), low T cell numbers present in 80% of patients w/ this deletion
  • humoral immunity intact in most patients
  • classic triad: cardiac anomalies, hypocalcemia, hypoplastic thymus
  • patients commonly suffer from frequent upper respiratory infections
  • live viral vaccines can be given to patients who have CD8+ T cell count >300 cells/mm3
A

DiGeorge syndrome (DGS)

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21
Q
  • most commonly inherited as an X-linked trait linked to mutation in Bruton tyrosine kinase (BTK)
  • autosomal recessive forms also exist
  • early B cell development (pre BCR) is arrested at the pre-B cell stage
  • leads to absent or low levels of circulating B cells
A

agammaglobulinemia

22
Q
  • X-linked disorder with a freq of approx 1:250,000 males
  • no IgG, IgM, or IgA
  • immunophenotype: B-, T+, NK+
  • mutation in tyrosine kinase that causes defect in rearrangement of Ig heavy chain genes
  • dx: 5-6 month old infants, titers of serum antibodies are totally absent or very low
  • tx: HSCT
A

X-linked Btk deficiency

23
Q
  • decreased concentrations of one or more IgG subclasses
  • some IgG subclasses low, normal IgM, IgA, and IgE
  • immunophenotype: B+, T+, NK+
  • caused by defects in several genes
  • usually asymptomatic, may be a/w recurrent viral/bacterial infections, involving respiratory tract
  • low levels of IgG2 are freq a/w poor responses to polysaccharide antigens in children
  • IgG4 levels vary widely and many healthy people have no IgG4
A

isolated IgG subclass deficiencies

24
Q
  • no IgA, normal IgG and IgM
  • immunophenotype: B+, T+, NK+
  • high prevalence (1 in 700), males more likely have, most affected individuals are healthy
  • multiple genes involved
  • dx: more than 85% with recurrent infections, typically encapsulated bacteria; dx by antibody titers
  • 50% of patients are asymptomatic, as IgM is able to translocate across mucosal epithelium
  • patients often develop autoimmune dz’s and allergies

- patients may have anti-IgA IgG, which has been linked to development of non-IgE mediated anaphylaxis in response to intravenous immunoglobulin (IVIG) transfusion

A

IgA deficiency

25
Q
  • high IgM, low IgG and IgA
  • immunophenotype: B+, T+, NK+
  • patients have increased susceptibility to bacterial infections
  • example: CD40L mutation, causes lack of class switching or somatic hypermutation
  • X-linked CD40L deficiency (males) responsible for 2/3 of cases
  • autosomal CD40 deficiency (females and males) responsible for 1/3 of cases
  • tx: HSCT
A

hyper IgM (HIGM) syndrome

26
Q
  • low IgG/IgA, IgM normal or low
  • immunophenotype: B+, T+, NK+
  • infant IgG production delayed up to 36 months, majority of patient’s Ig conc normalize between 2-4 y/o
  • results in increased susceptibility to sinopulmonary infections
A

transient hypogammaglobulinemia of infancy

27
Q
  • low IgG and IgA, sometimes low IgM
  • immunophenotype: B-/+, T+, NK+
  • autosomal disorder that occurs in 1:25,000 individuals
  • mutations may occur in receptor for B cell growth factors (maturation/activation) and costimulators (T-B collaboration)
  • number of circulating B cells is reduced or normal, B cells fail to differentiate into plasma cells
  • onset: after 4-5 years of age, dx usually around 20-30 y/o
  • sx: recurrent infections, autoimmune dz, lymphomas
  • tx: HSCT
  • dx: history of recurrent pyogenic sinopulmonary infections
A

common variable immune deficiency (CVID)

28
Q
  • very low IgG, IgA, and IgE
  • immunophenotype: T-, B+, NK-
  • most common form of SCID (45% of all cases)
  • X-linked recessive
  • mutation in the gene that encodes for γ chain shared by the T-cell growth factor receptor (IL-2Rγ) and other growth factor receptors
  • IL-2Rγ is shared with other cytokine receptors including IL-4, IL-7, IL-9, IL- 15, and IL-21
  • no funtional B cells since T cells are unable to “help”
  • sx: failure to thrive, severe thrush, opportunistic infections, chronic diarrhea
  • tx: HSCT

(avoid all live viral vaccines)

A

common γ chain deficiency (γC or IL-2Rγ)

29
Q
  • very low IgG, IgA, IgE
  • immunophenotype: T-, B+, NK+
  • autosomal recessive
  • low antibody levels due to absence of T cell costim signaling
  • onset: childhood
  • sx: candidiasis, chronic diarrhea, pneumocystis jiroveci pneumonia, severe viral infections
  • sx: sequencing of IL-7α gene
  • tx: HSCT

(avoid all live viral vaccines)

A

IL-7Rα chain deficiency

30
Q
  • variable hypogammaglobulinemia
  • immunophenotype: T+, B+, NK-
  • rare, autosomal recessive disorder causing HLA II negative SCID
  • no MHC II on APC’s causes deficiency in CD4+ T cells
  • genes from MHC II on chromosome 6 are intact, mutations are in genes that encode for transcription factors that regulate expression of MHC II genes
  • mainly low levels of IgA and IgG2
  • sx: recurrent respiratory, GI, and urinary tract infections, death in early childhood
  • tx: HSCT
A

bare lymphocyte syndrome type 2 (BLS II)

31
Q
  • immunophenotype: T+, B+, NK+
  • caused by mutation in TAP1 molecules that transfer peptides to ER
  • CD8+ cells and NK cells are functionally deficient, CD4+ cells are normal, normal antibody prod, normal DTH
  • sx: recurring viral infections
  • tx: HSCT not recommended
A

MHC class I deficiency

32
Q
  • low IgG, IgA, and IgM
  • immunophenotype: T-, B+, NK+
  • autosomal recessive form of SCID caused by deficieny of the CD3 subunits
  • presents in infancy w/ lymphopenia and decreased T cell numbers, B and NK cells are normal
  • antibody responses typically decreased
  • sx: failure to thrive, opportunistic infections, diarrhea
  • tx: HSCT
A

CD3 complex deficiencies

33
Q
  • defect in T cell function
  • self reactive T effector cells are not inhibited because of a mutation in FoxP3
  • results in loss of inhibition by CD+CD25+ Treg cells
  • HSCT is curative and should be considered
A

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

34
Q
  • defect in T cell function
  • 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
  • HSCT not recommended
A

autoimmune lymphoproliferative syndrome (ALPS)

35
Q
  • low IgM, normal IgG, elevated IgA and IgE
  • immunophenotype: T-, B+, NK-
  • X-linked disorder caused by mutations in WAS protein
  • patients develop combined immunodeficiency: decreased IgM, normal IgG, elevated IgA and IgE; T cell lymphopenia; decreased NK cell cytotoxicity
  • sx: thrombocytopenia, eczema, autoimmune dz, malignancy, recurrent bacterial infections (encap bacteria), viral infections, opportunistic infections (P. jiroveci and candida)
A

Wiskott-Aldrich syndrome (WAS)

36
Q

Mutations resulting in increased susceptibility to nontuberculous mycobacteria have been identified in the genes encoding: (3)

A
  • the IFN-γ receptor
  • the IL-12 receptor
  • the p40 subunit of IL-12
37
Q

What happens when there are defects in the IL-12/IFN-γ pathway?

A

(IL-12 signaling is essential for differentiation of naive T cells in Th1 cells)

  • mutations in IL-12 or IL-12R genes result in clinically limited primary immunodeficiency
  • patients do not produce Th1 cytokine IFN-γ, necessary for control of intracellular bacterial infections
  • sx: selective susceptibility to intracellular pathogens (atypical mycobacteria, candida, salmonella)
  • patients have defects in Th17 cells that accounts for recurrent fungal infections
38
Q
  • deficiency that leads to unusual susceptibility to chronic mucocutaneous candidiasis
  • a/w mutations in genes encoding for either IL-17, IL-17R or transcriptional factors STAT1, STAT3, or AIRE
  • many patients prior were categorized into having hyper IgG syndrome due to severe atopic disease (atopic dermatitis, food allergies, asthma) and recurrent staph aureus skin abscesses
A

Th17 deficiency

39
Q
  • can be caused by mutations in multiple genes
  • 2 major types: classical (CNKD) and functional (FNKD)
  • classical: absence of NK cells (ex: GATA2 deficiency)
  • functional: presence of NK cells exhibiting defective NK cell activity w/o NK lymphopenia (ex: perforin deficiency)
  • sx: multiple severe or disseminated viral infections, herpes infections, varicella pneumonia, disseminated cytomegalovirus (CMV), HSV
A

NK cell deficiency (NKD)

40
Q
  • most frequent phagocytic disorder characterized by the tendency to form granulomas
  • more common in males
  • enzymatic deficiency of NADPH oxidase in phagocytes, fail to generate superoxide anion and other O2 radicals
  • results in defective elimination of extracellular pathogens (bacteria, fungi)
  • patients are susceptible to reccurent infection w catalase-positive organisms (e.g. staph)
A

chronic granulomatous disease (CGD)

41
Q
  • X-linked recessive genetic disease a/w anemia
  • lack of substrate for NADPH
  • more individuals are asymptomatic
  • manifestation: tendency to form granulomas
A

G6PD deficiency

42
Q
  • caused by mutations in CD18 gene resulting in defective or deficient β-2 integrin
  • neutrophil count is 2x normal amnt, neutrophils unable to aggregate, they cannot bind to intercellular adhesion molecules on endothelial cells
  • defective migration of neutrophils, inable to move to site of infection/injury
  • infected foci contain few neutrophils and heal slowly with enlarging borders and dysplastic scars
  • sx: recurrent infections of oral and genital mucosa, skin, intestinal, and respiratory tracts
  • clinical manifestations: delayed detachment of umbilical cord, slow wound healing, severe bacterial infections, failure to form pus
  • prognosis: poor w/ early death
  • dx: flow cytometric assessment of neutrophil adhesion molecules CD11 and CD18
A

leukocyte adhesion deficiencies (LAD)

43
Q
  • autosomal recessive disorder
  • patients become wheelchair bound and usually die of infection in early 30’s
  • molecular defect is in structure of neutrophil granule as abnormal giant granules, granules do not contain cathepsin G and elastase
  • defects manifested in abnormal chemotaxis and degranulation
  • patients are prone to pyogenic granulomas cause by bacterial infections
  • response to infection is blunted neutrophilia due to delayed diapedesis
  • biphasic immunodeficiency: first phase susceptibility to infections, second phase accelerated lymphoproliferative syndrome (hepatosplenomegaly and lymphadenopathy)
  • dx: azurophilic giant cytoplasmic inclusions in blood cells, partial albinism, no NK activity
A

Chediak-Higashi syndrome

44
Q
  • deficiency linked to development of SLE and RA
  • deficiency in complement system leads to immune complexes growing too large to be cleared
  • complexes form desposits in tissues and become site of inflammation
A

C1 and C4 deficiency (sometimes C2)

45
Q
  • deficiency in complement system that results in recurrent sinopulmonary infections
  • most common complement def in Caucasian pops
A

C2 deficiency

46
Q

defects in C3 result in a clinical phenotype that is indistinguishable from _______ deficiencies, although this complement deficiency is markedly less frequent than ______ ___-dependent immunodeficiencies

A
  • antibody
  • humoral ab
47
Q
  • autosomal recessive inheritance
  • increased susceptibility to Neisserial infections
  • cause of low levels of complement protein: inherited, acquired, complement consumption due to chronic comp activiation due to ongoing infection
  • dx: absent C8 levels in presence of normal C3 and C4 values suggests C8 deficiency; absent C8 levels in presence of low C3 and C4 values suggests complement consumption
A

MAC deficiencies

48
Q
  • causes hereditary angioedema (HAE)
  • sx: recurrent swelling in extremities, lips, face, larynx, and GI tract
  • swelling due to prod of bradykinin, a by-prod of kinin-generating pathway
  • tx: C1 inhibitor replacement therapy
A

C1-INH deficiency

49
Q
  • condition related to failure to regulate formation of MAC
  • somatic mutation causes deficiency of glycosylphosphatidylinositol (GPI)
  • cells lack all the proteins (~40) linked through GPI anchor to their cell membranes
  • two most important: DAF (CD55) and CD59, which are complement regulatory proteins involved in protecting RBC’s from complement action
  • cause of intravascular hemolysis in patients is increased susceptibility of RBC’s to complement
A

paroxysmal nocturnal hemoglobinuria (PNH)

50
Q
  • innate immune deficiency that results in impaired signaling for all TLR’s, except TLR3
  • leads to abnormally frequent and severe infections by pyogenic bacteria
  • patients have normal resistance to other common bacteria, viruses, fungi, and parasites
  • patients lack fevers and elevated levels of ESR/CRP despite active infection
  • during infection, blood levels of TNF-α, IL-1, and IL-6 are low

(TLR3 deficiency is autosomal dominant disorder which results in increased susceptibility to HSV encephalitis)

A

MyD88 deficiency

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