1 Usmle - Immuno - Deficiencies

Front 1

BRUTON'S AGAMMAGLOBULINEMIA


DEFECT
CLINICAL PRESENTATION
LABS

Back 1

Defect = X-linked RECESSIVE
● BTK (= TYROSINE KINASE gene) defect
→ blocks PRE-B cells → immature B cells
→ OPSONISATION defect

Clinical: RECURRENT BACTERIAL INFX
● after 6M (↓maternal IgG)

LABS: Normal PRO-B, normal CMI
● ↓MATURATION
● ↓/∅ circulating B cell #'s
● ↓Ig (ALL classes)

Front 2

HYPER-IgM Syndrome


DEFECT
CLINICAL PRESENTATION
LABS

Back 2

Defect = CD40L on Th cells
→ inability to CLASS SWITCH


Clinical = severe PYOGENIC INFX early in life


LABS: ↑IgM
● ↓↓IgA
● ↓↓IgG
● ↓↓IgE
● normal B & T cells #s

Front 3

SELECTIVE Ig DEFICIENCY


DEFECT
CLINICAL PRESENTATION
LABS

Back 3

Defect = ISOTYPE SWITCHING
→ deficiency in SPECIFIC CLASS of Ig
- most common = IgA def

Clinical:
● SINUS & LUNG infx
● MILK allergies & diarrhea
● ANAPHYLAXIS w/ exposure to BLOOD products w/ IgA

LABS: (IgA def)
● failure to mature → ∅ PLASMA cells
● ↓SECRETORY IgA

Front 4

COMMON VARIABLE IMMUNODEFICIENCY
(CVID)


DEFECT
CLINICAL PRESENTATION
LABS

Back 4

Defect = B-cell MATURATION -- -- (many causes)

Clinical: -- can be aquired in 20s-30s
↑risk of
★ AI dz
● LYMPHOMA
● SINO-PULMONARY infx

LABS: Normal # B-cells
● ↓PLASMA cells
● ↓Ig

Front 5

THYMIC APLASIA
(DiGEORGE Syndrome)


DEFECT
CLINICAL PRESENTATION
LABS

Back 5

Defect = 22q11 DELETION
→ failure to develop 3rd + 4th PHARYNGEAL POUCHES
→ ∅ THYMUS, ∅PARATHYROIDS

Clinical:
● recurrent VIRAL/FUNGAL infx (↓T-cells)
● TETANY (↓Ca²⁺)
● congenital HEART & GREAT VESSEL defects

LABS: (thymus & parathyroids fail to develop →)
● ↓T-cells
● ↓Ca²⁺
● ↓PTH
● ∅ THYMIC SHADOW on CXR

Front 6

IL-12 RECEPTOR DEFICIENCY

DEFECT
CLINICAL PRESENTATION
LABS

Back 6

Defect = ↓Th1 response


Clinical = DISSEMINATED MYCOBACTERIAL infx


LABS = ↓IFN-γ

Front 7

HYPER-IgE Syndrome
(JOB's syndrome)


DEFECT
CLINICAL PRESENTATION
LABS

Back 7

Defect = T-cells don't produce IFN-γ
→ PMN unable to respond to CHEMOTACTIC stimuli

Clinical: [FATED]
Facies = coarse
ABSCESSES -- STAPH cold (non-inflam)
retained 1° TEETH
↑IgE
DERM probs = ECZEMA

LABS = ↑IgE

Front 8

CHRONIC MUCOCUTANEOUS CANDIDIASIS


DEFECT
CLINICAL PRESENTATION

Back 8

Defect = T-cell dysfn


Clinical: CANDIDA ALBICANS infx of
SKIN + MUCOUS membranes

Front 9

SEVERE COMBINED IMMUNODEFICIENCY
(SCID)


DEFECT
CLINICAL PRESENTATION
LABS

Back 9

Defect: ↓B & ↓T-cells
1.) IL-2R = X-linked (commonest)
2.) ADENOSINE DEAMINASE deficiency
3.) failure to synthesise MHC-II Ags

Clinical:
● Recurrent VIRAL, BACTERIAL, PROTOZOAL infx (d/t ↓B & ↓T-cells)
● Tx = BONE MARROW TRANSPLANT (no allograft rejection)

Ix/LABS:
● CXR = ∅ thymic shadow
● LN Bx = ∅ germinal centres
● Peripheral blood smear = ∅ B-cells
● ↓IL-2R → ↓T-cell activation
● ↑ADENOSINE = B & T-cell TOXIN
● (↓dNTPs, ↓DNA synthesis)

Front 10

ATAXIA-TELANGIECTASIA


DEFECT
CLINICAL PRESENTATION
LABS

Back 10

Defect = ATM gene = DNA REPAIR ENZYMES


Clinical: TRIAD
① ATAXIA = CEREBELLAR defects
② TELANGIECTASIA = SPIDER ANGIOMAS
③ IgA deficiency


LABS = ↓IgA

Front 11

WISKOTT-ALDRICH Syndrome


DEFECT
CLINICAL PRESENTATION
LABS

Back 11

Defect = X-linked RECESSIVE
● Progressive B & T-cell DELETION

Clinical: TRIAD [TIE]
● Thrombocytopenic PURPURA
● INFXs
● ECZEMA

LABS:
● ↑IgE + ↑IgA
★ ↓IgM

Front 12

LEUKOCYTE ADHESION DEFICIENCY (type 1)


DEFECT
CLINICAL PRESENTATION
LABS

Back 12

Defect = LFA-1 integrin (= CD18) protein on PHAGOCYTES


Clinical:
★ delayed separation of UMBILICUS
● Recurrent BACTERIAL infx
● ∅ PUS formation


LABS = NEUTROPHILIA

Front 13

CHEDIAK-HIGASHI Syndrome


DEFECT
CLINICAL PRESENTATION

Back 13

Defect = LYST = lysosomal regulator trafficking gene (AR)
→ MICROTUBULE dysfn in phagosome-lysosome fusion
→ ↓PHAGOCYTOSIS


Clinical: 4Ps
● ⇊PHAGOCYTOSIS
● PYOGENIC infx by STAPH & STREP
● Partial ALBINISM
● PERIPHERAL NEUROPATHY

Front 14

CHRONIC GRANULOMATOUS Disease


DEFECT
CLINICAL PRESENTATION
LABS

Back 14

Defect = ∅ NADPH OXIDASE →
● ↓reactive O₂ species (eg SUPEROXIDE)
★ ∅ PMN RESPIRATORY BURST

Clinical = ↑ susceptibility to CATALASE ⊕ bugs:
-- S. AUREUS
-- E. coli
-- ASPERGILLUS


Labs:
⊖ NITROBLUE TETRAZOLIUM dye reduction test

Front 15

X linked recessive, defect in BTK, a tyrosine kinase gene?

Back 15

Bruton's Agammaglobulinemia

Front 16

recurrent bacterial infxns after 6 months of age?

Back 16

Bruton's Agammaglobulinemia

Front 17

Bruton's Agammaglobulinemia lab finding?

Back 17

normal pro-B but decrease in maturation, decrease in # of B cells, and decrease in immunoglobulins of all classes

Front 18

Hyper IgM syndrome lab finding?

Back 18

low IgG, IgA, IgE

Front 19

B cell disorder due to a defective CD40L-----inability to class switch?

Back 19

Hyper IgM syndrome

Front 20

Defect in isotype switching---leading to a defcy in specific class of immunoglobulins?

Back 20

Selective Ig dfcy

Front 21

B cell disorder that presents with sinus and lung infxns, milk allergies, diarrhea, and anaphylaxis with exposure to IgA blood?

Back 21

Selective Ig defiency

Front 22

Defect in B cell maturation that can be aquired in 20-30s?

Back 22

Common Variable Immunodefcy (CVID)

Front 23

Lab findings of CVID?

Back 23

↓ Plasma cells
↓ immunoglobulins

Front 24

Thymic Aplasia?

Back 24

DiGeorge Syndome

Front 25

Di George's syndrome is due to failure of development of ____________.

Back 25

3rd and 4th pharyngeal pouches

Front 26

Lab findings assoc. with DiGeorge's Syndrome?

Back 26

↓ T cells
↓ PTH
↓ Ca²⁺

Front 27

IL-12 receptor defcy lab findings?

Back 27

↓ IFN-γ

Front 28

T cell disorder that has decreased Th1 response and presents with myobacterial infections?

Back 28

IL-12 receptor defcy

Front 29

T cell disorder in which the Th cells fail to produce IFN-gamma-----and causing neutrophils to not be able to respond to chemotactic stimuli?

Back 29

Hyper IgE syndrome (Jobs)

Front 30

Clinical presentation of Hyper IgE syndrome (Job's syndrome)

Back 30

FATED
coarse Facies
staphyloccocal Abscesses
retained primary Teeth
increase IgE
Derm probs---eczema

Front 31

Lab findings of Hyper IgE syndrome?

Back 31

↑ IgE

Front 32

T cell dysfxn causing candida albican infxns of the skin and mucous membranes?

Back 32

Chronic Mucocutaneous Candidiasis

Front 33

Most common cause of SCID?

Back 33

defective IL-2 receptor

Front 34

What B and T cell disorder presents with recurrent viral, bacterial and fungal infxns?

Back 34

SCID

Front 35

Treatment for Severe Immunodeficiency disorder?

Back 35

Bone marrow transplant

Front 36

B and T cell disorder that is caused by a defect in the DNA repair enzymes?

Back 36

Ataxia Telangiectasia

Front 37

Ataxia Telangiectasia presentation?

Back 37

Ataxia (cerebellar defects)
Telangiectasia (spider angiomas)
IgA defcy

Front 38

Wiskott Aldrich syndrome clinical presentation?

Back 38

TIE
Thrombocytopenic Purpura
Infxns
Eczema

Front 39

Lab findings of Wiskott Aldrich syndrome?

Back 39

★ ↓IgM

↑IgE
↑IgA

Front 40

X linked recessive defect leading to progessive deletion of B and T cells?

Back 40

Wiskott Aldrich Syndrome

Front 41

Recurrent bacterial infxns, absent pus formation, and delayed seperation of umbilicus?

Back 41

LAD type 1

Front 42

Defect in LFA-1 Integrin (CD18) protein on phagocytes?

Back 42

LAD 1

Front 43

Labs of LAD 1?

Back 43

Neutrophilia

Front 44

Autosomal recessive---defect in microtubular fxn with a decrease in phagocytosis?

Back 44

Chediak-Higashi Syndrome

Front 45

Recurrent pyrogenic infxns by staph and strep, partial albinism, and peripheral neuropathy?

Back 45

Chediak Higashi Syndrome

Front 46

Lack of NADPH oxidase?

Back 46

Chronic Granulomatous Dx

Front 47

Phagocyte disfunction that has caused a decrease in ROS in neutrophils?

Back 47

Chronic Granulomatous Dx

Front 48

Test for Chronic Granulomatous Ds?

Back 48

Negative Nitroblue Tetrazolium Dye reduction test