Immunodeficiency Syndromes

Question 1

Severe combined immune deficiency

Answer 1

ADA deficiency
PNP deficiency
gammac chain deficiency
DNA repair defect

Question 2

ADA deficiency

Answer 2

Deficiency in stem cell to proB/proT cell cell

No T or B cells

Question 3

PNP deficiency

Answer 3

Deficiency in stem cell to proB/proT cell

No T or B cells

Question 4

gammac chain deficiency

Answer 4

deficiency in proT cell to preT cell

No T cells

Question 5

DNA repair defect

Answer 5

No T or B cells

Question 6

DiGeorge syndrome

Answer 6

Thymic aplasia

Variable numbers of T and B cells

Question 7

MHC class I deficiency

Answer 7

Mutant TAP1 or TAP2
No CD8 T cells
susceptible to viruses

Question 8

MHC class II deficiency

Answer 8

Lack of MHC class II expression
No CD4 T cells

Question 9

Wiskott-Aldrich syndrome

Answer 9

X-linked; defective WASP gene
Defective polysaccharide antibody responses
susceptible to encapsulated extracellular bacteria
fewer and smaller platelets

Question 10

Common variable immunodeficiency

Answer 10

MHC-linked abnormality
Defective antibody production
susceptible to extracellular bacteria

Question 11

C3 deficiency

Answer 11

Lack of C3

recurrent infection with Gram-neg bacteria

Question 12

Asplenia

Answer 12

absence of spleen

encapsulated extracellular bacteria

Question 13

Paroxysmal nocturnal hemoglobinuria

Answer 13

mutations in genes involved in phosphatidylinositol glycan biosynthesis
lack of DAF, HARF, CD59
lysis of erythrocytes by complement

Question 14

X-linked immunodeficiency (NEMO deficiency)

Answer 14

NEMO
impaired activation of NFkB
chronic bacterial and viral infections

Question 15

Chronic granulomatous disease

Answer 15

(NOX1) NADPH oxidase
impaired neutrophil function
chronic bacterial and viral infections

Question 16

MBL deficiency

Answer 16

Lack of mannose-binding lectin

susceptibility to meningitis due to Neisseria meningitidis

Question 17

NK-cell deficiency

Answer 17

Absence of NK cells

susceptibility to herpesvirus infections

Question 18

X-linked hyper IgM syndrome

Answer 18

CD40L or CD40 or NEMO
No isotype switching or somatic hypermutation in B cells
extracellular bacterial and fungal infections

Question 19

SCID

Answer 19

RAG1 or RAG2

No gene rearrangements in B cells and T cells

Question 20

Omenn syndrome

Answer 20

RAG1 or RAG2 or Artemis
Impaired V(D)J recombination

Question 21

Bare lymphocyte syndrome

Answer 21

TAP1 or TAP2
Low MHC class I expression
susceptible to respiratory viral functions

Question 22

X-linked agammaglobulinemmia

Bruton’s disease

Answer 22

BtK
B cells blocked at pro-B cell stage
recurrent bacterial infections

Question 23

IPEX

Answer 23

FOXP3
lack of regulatory T cells and peripheral tolerane
autoimmune diseases

Question 24

ZAP-70 deficiency

Answer 24

ZAP70

T cells that cannot signal through their receptors

Question 25

IgG2 deficiency

Answer 25

Lack of IgG2

encapsulated bacteria

Question 26

Selective IgA deficiency

Answer 26

Lack of IgA

No major susceptibility (respiratory infections?)

Question 27

Factor I deficiency

Answer 27

Autosomal recessive
Absence of factor I and depletion of C3
recurrent infections of URT, ears, skin and UTI
glomerulonephritis with isolated C3 deposits

Question 28

Deficiencies of C5, C6, C7, C8 or C9

Answer 28

Lack of complement-mediated lysis

infections due to Neisseria species

Question 29

APECED

Answer 29

AIRE (autoimmune regulator)
Reduced T cell tolerance to self antigens
autoimmune diseases

Question 30

Bloom’s syndrome

Answer 30

Defective DNA helicase
T cell numbers reduced
Reduced antibody levels
Respiratory infections

Question 31

Ataxia telangiectasia

Answer 31

Gene with PI-3 kinase homology (ATM gene)
T cell numbers reduced
high AFPF, low IgA, IgG and IgE
ataxia, spider angiomas, IgA deficiency

Question 32

X-linked lymphoproliferative syndrome

Answer 32

X-linked
EBV-triggered immunodeficiency
EBV virus susceptibility

Question 33

Hereditary angioneurotic edema

Answer 33

Deficiency of C1INH, autosomal dominant
increase of bradykinin, decrease of C4 and C2
recurrent episodes of edema, abdominal, pelvic pain, suffocation

Question 34

Factor D, properdin deficiency

Answer 34

no formation or stabilization of C3 convertase

susceptibility to capsulated bacteria and Neisseria but no immune-complex disease

Question 35

IL-12 receptor deficiency

Answer 35

reduced Th1 response, autosomal recessive
may present after administration of BCG vaccines
low IFN-gamma

Question 36

Autosomal dominant hyper-IgE syndrome

Job syndrome

Answer 36

deficiency of Th17 cells due to STAT3 mutation
impaired recruitment of neutrophils to siters of infection
high IgE and low IFN-gamma

Question 37

Leukocyte adhesion deficiency

Answer 37

defect in LFA-1 integrin (CD18)
impaired migration and chemotaxis, autosomal recessive
increased neutrophils, absence of neutrophils at infection sites

Question 38

Chediak Higashi syndrome

Answer 38

defect in lysosomal trafficking regulator gene
microtubule dysfunction in phagosome-lysosome fusion; autosomal recessive
recurrent pyogenic infections by staph and strep