Kaplan Chapter 10 - Immune Diseases

Front 1

Immune Deficiencies: What to look for

Back 1

- Frequent infections
- Unusually severe infections
- Prolonged infections
- Unusual organisms

Front 2

Immune Deficiencies: Manifestations in kids

Back 2

- Recurrent sinusitis or PNA (sinopulmonary)
- FTT
- Thrush
- Recurrent diarrhea

Front 3

Immune Deficiencies: Associated conditions

Back 3

- Skin
- AI diseases

Front 4

Immune Deficiencies: Specific/Helpful Tests

Back 4

- CBC
- ESR: Excludes chronic bacteria/fungal infections
- Nl absolute lymphocyte count (unlikely T-cell defect)
- Nl absolute neutrophil ct (no neutropenias)
- Normal plts: No Wiskott-Aldrich
- Howell-Jolly bodies: Asplenia

Front 5

Immune Deficiencies: Lower limit normal absolute neutrophils count

Back 5

~ 500 minimum before very concerned about infections

Front 6

Immune Deficiencies: B-Cell Def Screening

Back 6

- Quant Ig
- Order All subsets (e.g. IgG 1-4)
- Ab titers

Front 7

Immune Deficiencies: T-cell Def Screening

Back 7

- Absolute lymphocyte ct
- Skin Test: Delayed hypersentitivity

Front 8

Immune Deficiencies: Phagocytic def screening

Back 8

- Absolute neutrophil ct
- Neutrophil respiratory burst

Front 9

Immune Deficiencies: Complement def screening

Back 9

- CH 50 (The best): Is less specific but looks at overall complement function

Front 10

Hx of Ab, Phagocytic, or Complement Def:

Back 10

Recurrent infections with encapsulated bacterial OR enterviral infection

Front 11

Hx of T-cell Def:

Back 11

Opportunistic infections
Early in life FTT

Front 12

Hx of Killing defects

Back 12

- Recurrent staph infection s
- Reuccurrent G- Rods infections

Front 13

Bruton Agammaglobulinemia: Genetics

Back 13

X-linked --> Ony boys

Front 14

Bruton Agammaglobulinemia: Presentation

Back 14

Only in 2nd 6 mo life (passive maternal)

Front 15

Bruton Agammaglobulinemia: Types of infections

Back 15

Pyogenic infections
Enterovirus
Hepatitis viruses

Front 16

Bruton Agammaglobulinemia: Exam

Back 16

Lymphoid HYPOplasia
i.e. will NOT be feeling Lymph nodes

Front 17

Bruton Agammaglobulinemia: Labs

Back 17

ALL Ig Low: IgG, IgA, IgM, IgE

Front 18

Bruton Agammaglobulinemia: Definitive Test

Back 18

Flow cytometry --> Absence circulating B-cells

Front 19

Bruton Agammaglobulinemia: Rx

Back 19

Monthly IVIG

Front 20

Common Variable Immune Deficiency: Epi

Back 20

ACQUIRED
Later Ages
Both Sexes

Front 21

Common Variable Immune Deficiency: Mech

Back 21

- Phenotypically normal B-cells
- Do not differntiate normally into Ig providing cells

Front 22

Common Variable Immune Deficiency: Vs. Bruton

Back 22

Similar infections (pyogenic)
RARELY enteroviral meningitis

Front 23

Common Variable Immune Deficiency: Exam

Back 23

NORMAL Lymphoid tissue

Front 24

Common Variable Immune Deficiency: Complications

Back 24

- AI Disease
- Lymphoma (particularly) in women

Front 25

Most common B-Cell Disease:

Back 25

Selective IgA Def

Front 26

Selective IgA Def: Mech

Back 26

Absent Serum and Absent secretory IgA

Front 27

Selective IgA Def: Presentation

Back 27

Chronic UR infection
GI infection
UG infection
Skin Infections

Front 28

Selective IgA Def: Complications

Back 28

High incidence: AI (SLE, RA) and malignancies

Front 29

Selective IgA Def: Rx

Back 29

- CAREFUL with blood products b/c they develop anti-IgA Ab

Front 30

IgG Subclass Deficiency: Defn

Back 30

1+ or 4 IgG subclasses are decreased

*Normal or INCREASED total IgG

Front 31

IgG Subclass Deficiency: Association

Back 31

IgG2 goes with IgA deficiency

Front 32

IgG Subclass Deficiency: Outcomes

Back 32

Lateral turns into general immune dysfunction

Front 33

IgG Subclass Deficiency: Rx

Back 33

IVIG: ONLY if deficient response to wide range of Ag

Front 34

DiGeorge Syndrome: Mech

Back 34

- Dysmorphogenesis of 3rd and 4th pharyngeal pouches
*Thymic and parathyroid hypoplasia
*Great vessel anomalies--truncus
*Other CHD
*Dysmorphic facial

Front 35

DiGeorge Syndrome: Findings

Back 35

*Thymic and parathyroid hypoplasia
*Great vessel anomalies--truncus most common
*Other CHD
*Dysmorphic facial
*Other: Bifid uvula, esophageal atresia

Front 36

DiGeorge Syndrome: #1 Presentation

Back 36

Hypocalcemia --> Seizures in neonate

Front 37

DiGeorge Syndrome: Facial features

Back 37

Microagnothia
Fish Mouth
Wide spaced eyes (hypertelorism)
Low-set ears

Front 38

DiGeorge Syndrome: Other Presentations

Back 38

- Opportunistic VIRAL infections
- High susceptibility to GVHD especially w/ nonirradiated transfusions!

Front 39

DiGeorge Syndrome: Exam

Back 39

Decreased or Absent thymic tissue
Otherwise normal lymphoid tissues
Characteristic facies

Front 40

DiGeorge Syndrome: Labs

Back 40

- Low absolute lympho cout
- Low CD3 Ct
- Absent respiratory burst (T-cell PMN facilitation)

Front 41

DiGeorge Syndrome: Rx

Back 41

- MHC-compatible thymic tissue transplant OR:
- Half-matched parental BMT

*Definitive Treatments

Front 42

SCID: Findings and Most common Mech

Back 42

- Absence of ALL adaptive immune function + Natural killer function
- Most common: X-linked (See: boys)
- There are AR forms more common in Europe

Front 43

SCID: Clinical presentation

Back 43

- First month of life (earlier than most)
*Diarrhea
*PNA, OM, sepsis, skin infections
*FTT --> Wasting
*Opportunistic and viral infection

Front 44

SCID: Strange bad reaction?

Back 44

- GVHD from maternal T-cells

Front 45

SCID: What is absent?

Back 45

- Severe lymphopenia starting at birth
- No Ig
- No Ab responses
- No mitogen responses

Front 46

SCID: How serious

Back 46

- True pediatric emergencies

Front 47

SCID: Tx

Back 47

- BMT or Death in first year
*Usually successful if Dx in first 3 mo
*Gene therapies still in works

Front 48

Wiskott-Aldrich: Mech

Back 48

- Low (but NOT absent) T-cell function
- X-linked Recessive

Front 49

Wiskott-Aldrich: Findings

Back 49

- Eczema
- Petechiae (b/c thrombocytopenia + Bad platelets)
- Combined immunodeficiency --> recurrent infection + draining ears
- Palpable lymph tissues (vs. Brutons)

Front 50

Wiskott-Aldrich: Pneumonic

Back 50

MR TEXT
- M = Low IgM
- R = Recurrent infections
- T = T-cell defect (B-cell too)
- E = Ezcema
- X = X-linked
- T = Thrombocytopenia

Front 51

Wiskott-Aldrich: Labs

Back 51

- HIGH IgA, IgE, Low IgM
- Low Plts
- Genetic testing for carriers

Front 52

Wiskott-Aldrich: Outcome

Back 52

- RARE survival beyond teens w/o BMT
- Death from: Infections, CA, Bleeding
*High risk for malignancy

Front 53

Ataxia-Telangiectasia (A-T): Genetics and Mech

Back 53

- Chromosome 11
- Humoral and Cellular deficiency

Front 54

Ataxia-Telangiectasia (A-T): First Finding

Back 54

1) Cerebellar ataxia

Front 55

Ataxia-Telangiectasia (A-T): Clinical Findings

Back 55

1) Cerebellar ataxia --> wheelchair bound by 12
2) Chronic sinopulmonary DZ, viruses --> do OK though
*i.e. sinusitis and PNA
3) Oculocutaneous telangiectasias at 3-6y
*Look on bulbar conjunctiva
4) Mask-like facies, drooling, tics

Front 56

Ataxia-Telangiectasia (A-T): Labs

Back 56

- Low IgA
- Low CD3 and CD4

Front 57

Ataxia-Telangiectasia (A-T): Complications

Back 57

- High risk: Lymphoreticular CA and adenocarcinomas

Front 58

Chronic Granulomatous Diseases: Mech

Back 58

- Variety of them
- Most X-linked
- Neutrophils can ingest but not kill Catalase + organisms

Front 59

Chronic Granulomatous Diseases: Presentation

Back 59

- Recurrent LAD, PNA, Skin infections
- Catalase+ orgs

Front 60

Chronic Granulomatous Diseases: Most common bugs

Back 60

- Staph aureus #1
- S. marcesens, B cepacia, Aspergillus, C. albicans, Salmonella

Front 61

Chronic Granulomatous Diseases: Neonatal finding

Back 61

- Delayed umbilical cord separation (e.g. 1-2 mo)

Front 62

Chronic Granulomatous Diseases: Dx

Back 62

1) Nitroblue tetrazolium dye (NBT test)
2) Most accurate:
*Dihydrorhodamine 123 fluorescence (DHR) test

Front 63

Chronic Granulomatous Diseases: Rx

Back 63

BMT
Treat infections aggressively or while waiting
Always cover staph