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Immunodeficiency Flashcards

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1
Q

What are the defects in recurrent/chronic pyogenic infections?

A 
Antibodies 
B cells
Complement 
Phagocytes
Mostly caused by encapsulated bacteria
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2
Q

What are the defects of opportunistic infections or cancer?

A

T cell alone or combined
Mostly caused by viruses, fungi and parasites
Live viral vaccines are contraindicated (MMR,VAR,ZOSTERVAX,LAIV)

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3
Q

What is the most common primary immunodeficiency?

A

Selective IgA

Affected mostly caucasians

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4
Q

What is the treatment of primary B cell?

A

Control infections with antimicrobials
Immunoglobulin (IG) replacement therapy
Do not treat IgA deficiency with replacement IG

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5
Q

What are the B cell and antibody deficiencies that are X linked?

A 
X linked (Bruton’s) agammaglobulinemia
X linked Hyper-IgM syndrome
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6
Q

What are the B cell and antibody deficiencies that are autosomal?

A

Transient hypogammaglobulinemia of infancy
Selective IgA deficiency
Selective IgM or IgG subclass deficiencies
Common variable immunodeficiency
Autosomal Hyper-IgM syndrome

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7
Q

What is the presentation of X linked Agammaglobulinemia (XLA)?

A

Affects males only
Onset between 3 months and 3 years
Repeated pyogenic bacterial infections not responding to antibiotics
Bronchiectasis is a common cause of death
Caused by defect of BTK gene

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8
Q

How to diagnose XLA?

A

Near absence of all antibody classes
No ABO isohemagglutinins
Near absence CD19+ B cells in blood
BTK gene defect is confirmatory

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9
Q

What is the presentation of selective IgA deficiency?

A

Many remain asymptomatic
Symptomatic patients present with celiac disease, autoimmunity such as RA, SLE
May progress to CVID
May possess IgE directed toward IgA

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10
Q

How is selective IgA deficiency diagnosed?

A

Serum IgA<5-7 mg/dL

Normal IgG and IgM

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11
Q

How is selective IgA deficiency treated?

A

Antimicrobials

No IVIG or SCIG

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12
Q

What is the presentation of IgM and IgG2 deficiencies?

A

Can’t respond to polysaccharide capsules on bugs or in vaccines
Agressive use of antibiotics for treatment of recurrent respiratory tract infections
Replacement IG is controversial

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13
Q

What is the presentation of Transient Hypogammaglobulinemia of Infancy (THI)?

A

Period of hypogammaglobulinemia more severe and more prolonged beyond 6 months
Correct itself by age 3
B or TH presenting as antibody deficiency

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14
Q

How is THI diagnosed?

A

Serum IgG low>2SD below norm

IgM or IgA normal or low

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15
Q

How is THI treated?

A

Antimicrobials as needed
Delay live vaccines shot
IG not usually given

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16
Q

What is the presentation of Common Variable Immunodeficiency (CVID)?

A

Affect both sexes
Usually after age 4, typically in 30s
May follow EBV infection
May follow selective IgA deficiency
Increase incidence of giardia
Mothers cannot confer passive protection on infants
Caused by B cells not developing into plasma cells—-> low serum antibodies

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17
Q

How is CVID diagnosed?

A

Low CD27+
Normal CD19+CD20+
Treated with antimicrobials, IG replacement

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18
Q

What are the characteristics of Hyper-IgM syndrome?

A

Patients present with recurrent respiratory infections beginning at 1-2 years
Inability to switch from production of IgM to other isotypes
X linked is 70% of the cases
Diagnosed by reduced IgG, IgA, elevated or normal IgE

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19
Q

How is Hyper-IgM treated?

A

Antibiotics
Replacement IG
Stem cell transplant

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20
Q

What are the X linked T cell deficiency?

A

X linked SCID

Wiskott-Aldrich syndrome (WAS)

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21
Q

What are the autosomal T cell deficiencies?

A 
Autosomal SCID
Omenn syndrome
Bare lymphocyte syndrome
Ataxia telangiectasia
Hyper IgE syndrome
DiGeorge syndrome
Chronic mucocutaneous candidiasis
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22
Q

What are the characteristics of SCID?

A

Heterogenous disorder with defects in both CMI and antibody production
Fatal by age 1 if not treated
Patients are susceptible to all types of infection: CMV,C.albicans
Vaccination with live microbes is lethal
Symptoms occur earlier than in XLA

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23
Q

What is the treatment of SCID?

A

Antimicrobials

Stem cell transplant

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24
Q

What are the 4 phenotypes of SCID?

Study These Flashcards
A

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

25
What are the diseases associated with T-B+ phenotype?
Common gamma chain deficiency- defect in IL-2,4,17,9 and 15- NK absent JAK3 tyrosine kinase deficiency- NK absent IL-7R alpha chain deficiency PNP deficiency- mental retardation
26
What are the diseases associated with T-B- group?
ADA deficiency | Recombinase deficiencies with radio sensitivity- mutations in RAG-1 and 2-no T, no B, no antibodies
27
What are the characteristics of Omenn syndrome?
``` Associated with T+B- Leaky SCID with partial RAG activity Low T and B numbers No pathogen specific immunity Resembles a graft versus host reaction Hyper IgE production Malnutrition from protein loss Treated with stem cell transplant, IFN gamma, cyclosporine ```
28
What are the characteristics of Bare lymphocyte syndrome (BLS)?
Cells lack MHC 1, 2 or both No collaboration between APCs and T cells In class 1 deficiency, TAP molecules are to blame—> HLA 1 not expressed on cell surface Defect in ZAP 70 and CD3 TREC assay for newborns-SCID<25 copies
29
What is the presentation of Hereditary Ataxia Telangiectasia?
Neurologic, immunologic, endocrine, hepatic and cutaneous abnormalities Ataxia by age 18 months due to degeneration of Purkinje cells Telangiectasia ( dilated capillaries) on skin and in eyes by 6 years Defect in ATM gene
30
How is Hereditary Ataxia Telangiectasia diagnosed?
Elevated AFP and CEA Inversions and translocations of chromosomes 7 and 14 Absent adenoids, small or absent thymic shadow Lymphadenopathy suggests lymphoma
31
How is Hereditary Ataxia Telangiectasia treated?
Antibiotics IVIG Death from bronchopulmonary infection or malignancy by early to middle adolescence
32
What are the characteristics of Wiskott Aldrich Syndrome (WAS)?
X linked presents in males at 20 months Classic triad: bleeding/ thrombocytopenia,recurrent bacterial infections, allergic reactions Caused by defect in gene coding for WASP
33
How is WAS diagnosed?
Low platelets (70,000/microliters) High serum IgE Normal/high IgA Low IgM and IgG
34
What is the treatment for WAS?
Antimicrobials as needed Prophylactic IVIG Platelet or blood transfusions for bleeding Treat eczema with creams and topical steroids Avoid food allergens Bone marrow transplant
35
What are the characteristics of Job Syndrome (Hyper IgE)?
``` Affects multiple organs Recurrent cold staphylococcal abscesses Elevated IgE No bleeding disorders Retained primary teeth Autosomal dominant due to defect in STAT3 ```
36
How is Job syndrome diagnosed ?
Serum IgE at least 2 SD above upper limit of normal Clinical features Eosinophilia with normal lymphocytes
37
How to treat Job syndrome?
Prophylactic antibiotics to prevent staph and Candida infections
38
What are the characteristics of congenital thymic aplasia aka DiGeorge syndrome?
Thymus and parathyroids do not form from the 3rd and 4th pharyngeal pouches Few or no T cells Hypocalcemic tetany in the first 24 hours of life Shortened philtrum of upper lip Due to sporadic 22q11.2 deletion
39
How is DiGeorge diagnosed?
Thymic shadow absent or reduced B cell present but no T dependent IgG production No live vaccines
40
How is DiGeorge treated?
Antimicrobials | Bone marrow transplant
41
What are the characteristics of chronic mucocutaneous candidiasis ?
Oral thrush and/or skin infections Diaper rash Can also affect the nails Due to overgrowth of Candida albicans Interference with IL-17 production or signaling Mutation in STAT1 is autosomal dominant Mutations in CARD9 and IL-17RC are autosomal recessive
42
How is chronic mucocutaneous candidiasis diagnosed and treated?
Candida in skin scrapings growth on culture media Candida antigens: negative skin testing Treated with antifungal agents
43
What are the diseases associated with phagocytic deficiencies ?
Chronic granulomatous disease (CGD)- X linked and autosomal Leukocyte Adhesion Deficiency (LAD)1 and 2 Chediak-Higashi syndrome Mendelian susceptibility to mycobacterial disease
44
What are the characteristics of CGD?
``` Present by age 2 , most common in males Repeated infections by catalase positive bacteria (staph) and fungi (aspergillus) Lymphadenitis Abscess in skin, liver and viscera Due to lack of functional NADPH oxidase X linked:gp91phox subunit ```
45
How is CGD diagnosed and treated?
DHR test- if positive no CGD NBT reduction test- if positive no CGD Treated with antimicrobials, IFN gamma, bone marrow transplant
46
What are the characteristics of LAD 1?
Missing adhesions molecules leading to inability of leukocytes to extravasate Cannot form pus efficiently Impaired wound healing Defect in CD18 Absent LFA-1 phagocytes cannot adhere to ICAM-1
47
How is LAD1 diagnosed and treated?
Leukocytosis regardless of infection status | Treated w antibiotics to active infection, bone marrow or stem cell transplant
48
What are the characteristics of LAD2?
Infections Growth and mental retardation Due to defect in fucose metabolism Lack of CD15/ sialyl Lewis X
49
How is LAD2 diagnosed and treated?
Flow cytometry for CD 15 | Treated with antibiotics for active infection, fucose replacement therapy
50
What are the characteristics of Chediak-Higashi disease?
``` Recurrent skin, lung , respiratory tract infections Oculocutaneous albinism Progressive cognitive decline Due to LYST gene NK & Tc activity depressed ```
51
How is Chediak Higashi disease diagnosed and treated ?
Giant granules in granulocytes apparent on stained blood smears Treated by antibiotics, anti virals BMT- in accelerated phase Poor prognosis
52
What are the characteristics of Mendelian Susceptibility to Mycobacterial Disease (MSMD)?
Susceptibility to infection with weakly pathogenic bacteria , virus and salmonella infections No administration of BCG vaccine Recessive mutations in genes coding for one or more proteins : STAT1 transcription factor,integrin beta 1,
53
How is MSMD diagnosed and treated?
Test for STAT1 IFN gamma serum cytokine Treated with antibiotics Adding IFN gamma wont help with total IFN gamma receptor
54
What are the diseases associated with complement deficiencies ?
``` C1,C2,C4–>SLE C3—>encapsulated bacteria C5-C9—-> Neisseria Properdin—>Neisseria C1INH—-> HAE GPI—-> paroxysmal nocturnal hemoglobinuria ```
55
What are the characteristics of HAE?
Edema of hands, face, arms Laryngeal edema Edema preceded by tingling and erythema Edema caused by stress or trauma( dental procedure)
56
What are the 3 types of HAE?
Type 1- low levels of C1INH Type 2- dysfunctional C1INH Type 3- Normal C1INH, factor 12 gene mutation Treated with C1INH replacement therapy or fresh frozen plasma
57
What are the characteristics of paroxysmal nocturnal hemoglobinuria (PNH)?
Dark urine due to RBC lysis Triad of anemia, pancytopenia, thrombosis in large vessels Budd- Chiari syndrome: abdominal pain, ascites, enlarged liver Severe headaches and eye Defect in GPI anchors for DAF (CD55) and HRF (CD59)
58
How is PNH diagnosed?
Median age is 42 with survival of 10 years CBC with differential Treated with prednisone or eculizumab (Mab toC5)

Immunology (8 decks)

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