Chronic Granulomatous Disease

Question 1

Chronic Granulomatous Disease are

Answer 1

X linked recessive disease

Question 2

Chronic Granulomatous Disease has defect in

Answer 2

PHOX-91 Protein

Question 3

PHOX-91 protein is characterized by

Answer 3

No NADPH oxidase
No oxidative burst

Question 4

No NADPH oxidase means

Answer 4

Unable to produce superoxide anions —> recurrent bacteria infection—-> Granuloma formation

Question 5

Diagnosis & management for Chronic Granulomatous disease

Answer 5

Nitroblue Tetrazolium reduction test or Dihydrohodamine test

Antibiotics & IFNy

Question 6

Chronic Granulomatous disease is common with

Answer 6

Catalase + organisms

Question 7

Leukocyte Adhesion Deficiency 1 mech, defect, function & clinical

Answer 7

CD18 beta 2 integrin gene
LFA-1 CD18 deficiency
Failure of neutrophil adhesion
Delayed umbilical separation

Question 8

Leukocyte Adhesion Deficiency 2 mech, defect, function & clinical

Answer 8

Fucose transporter gene
Selectin ligand
Defect In neutrophil endothelial lining
Mental retardation

Question 9

Leukocyte Adhesion Deficiency 3 mech, defect, function & clinical

Answer 9

Kindlin-3 protein
B1,B2,B3 integrins
Failure of integrin activation adhesive and rolling
Thrombocytopenia

Question 10

GATA2 Deficiency is characterized by

Answer 10

CD16 (FcyRIIIA) defect —> Loss of ADCC
Myelodysplastic syndrome
NK cell defect

Question 11

Chediak Higashi syndrome is characterized by

Answer 11

Defect in gene CHS1
Defective polymerization of micro tubules in neutrophils
Clinical manifestation albinism, neuropathy, thrombocytopenia
Diagnosis: giant cytoplasmic granules in WBC

Question 12

X linked SCID characterized by

Answer 12

IL2, 4, 7, 9, 15, 21 affect T, NKcell, IgG
Affects humoral and cell mediated
IL15=Nk cells

Question 13

ADA deficiency

Answer 13

Adenosine deaminase deficiency—> toxic metabolite accumulation deficiency in all cells

Question 14

JAK3

Answer 14

JAK3 tyrosine kinase deficiency Tcell & IgG

Question 15

OMENN syndrome

Answer 15

Mutations in the RAG genes —> absent VDJ recombination Tcell, Bcell, IgG

Question 16

DiGeorge Syndrome

Answer 16

CATCH22 on deletion of chromosome 22q11(TBX1 gene) Tcell deficiency
Cleft palate, abnormal facies, thymic aplasia cardiac defects hypocalcemia
Peripheral blood lymphocytes: decrease
CD3: decreased
Serum Ca=decreased

Question 17

Bare Lymphocyte Syndrome I & II

Answer 17

BLS l mutation in TAP1,2 and TAPASIN defect in MHC I CD8

BLS II mutation in HLA-DP, DQ and DR —> defect MHC II CD4

Question 18

X linked Aggamaglobulinemia is characterized by

Answer 18

Mutation in Bruton tyrosine kinase BTK—> failure of pre B cell maturation decrease in B cell numbers
Onset infants at 6 months ild

Question 19

X linked Aggamaglobulinemia clinical manifestation, diagnosis & treatment

Answer 19

Recurrent otitis media, diarrhea, pneumonia
No IgM IgA
Decrease in IgG
Coxsackievirus
Normal T cell numbers & absent or low B cell
Passive protection replacement therapy

Question 20

Common variable antibody production

Answer 20

B cells present but do note differentiate to plasma cells
No IgG
Pyogenic infections
H influenza, S pneumonia, staph aureus
Treat IVIG

Question 21

Selective IgA deficiency

Answer 21

Very low IgA
Autoimmune diseases allergies atopy

Question 22

Hype IgM Syndrome

Answer 22

Mutated CD40
Increased IgM

Question 23

Wiskott Aldrich Syndrome

Answer 23

X linked defect in WAS protein gene in chromosome 11
Poor leukocyte traffic
Decrease B & T cells
Low IgM with low to normal IgG
IgA & IgE elevated
Thrombocytopenia & Eczema

Question 24

Hyper IgE Syndromes- Jobs Disease

Answer 24

Increase Th2 cells High IgE high histamine Eosinophilia
Recurrent staphylococcal skin infection, atropic dermatitis, eczema (crusted lesions)

Question 25

Ataxia Telangiectasia

Answer 25

Cell cycle checkpoints apoptosis
DsDNA break complexes stability VDJ recombination

Hypotonia dysmetria (jerky motion)
Both B & T cell dysfunction
IgA deficiency

Question 26

Complement Deficiency

Answer 26

Deficiency in C5-C9 Neisseria

Question 27

Hereditary Angioedema

Answer 27

Deficiency in C1 inhibitor
Bradykinins increased vascular permeability causing facial edema