Chronic Granulomatous Disease Flashcards
Chronic Granulomatous Disease are
X linked recessive disease
Chronic Granulomatous Disease has defect in
PHOX-91 Protein
PHOX-91 protein is characterized by
No NADPH oxidase
No oxidative burst
No NADPH oxidase means
Unable to produce superoxide anions —> recurrent bacteria infection—-> Granuloma formation
Diagnosis & management for Chronic Granulomatous disease
Nitroblue Tetrazolium reduction test or Dihydrohodamine test
Antibiotics & IFNy
Chronic Granulomatous disease is common with
Catalase + organisms
Leukocyte Adhesion Deficiency 1 mech, defect, function & clinical
CD18 beta 2 integrin gene
LFA-1 CD18 deficiency
Failure of neutrophil adhesion
Delayed umbilical separation
Leukocyte Adhesion Deficiency 2 mech, defect, function & clinical
Fucose transporter gene
Selectin ligand
Defect In neutrophil endothelial lining
Mental retardation
Leukocyte Adhesion Deficiency 3 mech, defect, function & clinical
Kindlin-3 protein
B1,B2,B3 integrins
Failure of integrin activation adhesive and rolling
Thrombocytopenia
GATA2 Deficiency is characterized by
CD16 (FcyRIIIA) defect —> Loss of ADCC
Myelodysplastic syndrome
NK cell defect
Chediak Higashi syndrome is characterized by
Defect in gene CHS1
Defective polymerization of micro tubules in neutrophils
Clinical manifestation albinism, neuropathy, thrombocytopenia
Diagnosis: giant cytoplasmic granules in WBC
X linked SCID characterized by
IL2, 4, 7, 9, 15, 21 affect T, NKcell, IgG
Affects humoral and cell mediated
IL15=Nk cells
ADA deficiency
Adenosine deaminase deficiency—> toxic metabolite accumulation deficiency in all cells
JAK3
JAK3 tyrosine kinase deficiency Tcell & IgG
OMENN syndrome
Mutations in the RAG genes —> absent VDJ recombination Tcell, Bcell, IgG
DiGeorge Syndrome
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
Bare Lymphocyte Syndrome I & II
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
X linked Aggamaglobulinemia is characterized by
Mutation in Bruton tyrosine kinase BTK—> failure of pre B cell maturation decrease in B cell numbers
Onset infants at 6 months ild
X linked Aggamaglobulinemia clinical manifestation, diagnosis & treatment
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
Common variable antibody production
B cells present but do note differentiate to plasma cells
No IgG
Pyogenic infections
H influenza, S pneumonia, staph aureus
Treat IVIG
Selective IgA deficiency
Very low IgA
Autoimmune diseases allergies atopy
Hype IgM Syndrome
Mutated CD40
Increased IgM
Wiskott Aldrich Syndrome
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
Hyper IgE Syndromes- Jobs Disease
Increase Th2 cells High IgE high histamine Eosinophilia
Recurrent staphylococcal skin infection, atropic dermatitis, eczema (crusted lesions)
Ataxia Telangiectasia
Cell cycle checkpoints apoptosis
DsDNA break complexes stability VDJ recombination
Hypotonia dysmetria (jerky motion)
Both B & T cell dysfunction
IgA deficiency
Complement Deficiency
Deficiency in C5-C9 Neisseria
Hereditary Angioedema
Deficiency in C1 inhibitor
Bradykinins increased vascular permeability causing facial edema
