IMMUNE DEFICIENCY DISORDERS
classified into
1.Phagocytic defects
2.B cell defects
3.T cell defects
4. Combined T cell and B cell
5.Complement disorders
A.Phagocyte defects
There are three phagocyte cells defects all start with 'C'
1.Chronic granulocyte disorder
deficiency of NADPH oxidase enzyme,infection with CATALASE positive org
'C'GD - 'C'ATALASE positive infection
2.Chediak Higashi syndrome
granulocyte structure defect results in
1. occulocutaneous albinism(partial) due to defect in melanin granules
2.basic microtubule defect causes lysosomal granules to fuse causing abnormal giant granule formation
This image below shows a normally segmented neutrophils with giant azurophilic granules.
peripheral neuropathy
higashi eating PAN Pyogenic infections
Albinism
Neuropathy
3.CD 18 absence (leukocyte adhesion defect)
- a common beta chain of leukocytes integrin, recurrent chronic infections ,failure to form pus and donot reject umblical cord stump
at 18 yrs we start adhering to love life ;)
CD 18 leukocyte adhesion
B.B cell Diseases
there are 4 important b cell diseases and all have either hypo gammaglobulinemia or Ig in their name
1.Bruton X linked "hypogammaglobulinemia"
It is due to deficiency of tyrosine kinase so B cells dont mature , so no mature b cells in blood
Bruton is an immature boy
B cell maturation defect xlinked so more common in boys
2.X linked hyper"IgM "syndrome
deificiency of CD40 ligand on t cells so no class switching of Igs only IgM titers no other antibody found
remember this way X(girls ) linked Manohar conducts internals for 40 marks (CD 40)
3.Selective "IgA" deficiency
deficiency of isotype switching to IgA so we find sinopulmonary and GIT diseases (think mucosa) .if blood transfusion done in these pts they develop anaphylaxis by forming antibodies to IgA of donors blood
4.Common variable B cell disease occurs in late 20s associated with autoimmune diseases
C.T cell Diseases
I Love 2 get JOB or will DIe
IL2 JOB Digeorge
1.Digeorge syndrome -thymic aplasia -22q11 chromosome defect
failure of 3rd and 4th pouch development so hypocalcemia and absent thymus
2.JOB syndrome (hyper IgE syndrome)
only Educated get job so JOB hyper Ig"E"
th cells fail to produce IFNgama so neutrophils dont respond to chemotactic stimuli
"FATED" to get JOB
F facies coarse
A Abscess
T Teeth retained primary teeth
E hyper IgE
D Dermatological Eczema
3.IL2 receptor deficiency
D. Combined t cell and b cell
CID saw Wiskot And Aldrich at ATM
1.SCID
severe combined immune deficiency due to deficiency in adenosine deaminase,failure to produce MHC class 2,IL2 receptor def
2.Wiskot Aldrich syndrome
x linked reccesive,def in cytoskeletal glycoproteins results in deletion of t cells and b cells
wiskot and aldrich wear "TIE" T Thrombocytopenic purpura
I Infections
E eczema
Wiskotand aldrich wear TIE
due defect in ATM gene required for DNA repair patients have ataxia ,telengiectasia and IgA def
ATM are always under repair SO ATM Gene DNA repair
E.Complement Deficiency
1.Deficiency of C5 To C9 causes Nesseria infections
c5 to c9 forms membrane attack complex and is defence against gram negative bacteria
C 5 to C9 (5 +9) is 14.letter N is 14th so 'N'eisseria
2.Deficiency in C3 causes pyogenic bact inf and immune complexe diseases
immunecomplexes formed by three components 1.antigen 2.antibody 3.compliment binds 1 and 2
so C3 def associated wid immune complexes diseases
3.Deficiency of C1 esterase causes hereditary angioedema
4.Deficiency of Decay activating factor DAF causes Paroxysmal nocturnal haemoglobinuria
HB decays(DAF) In NYT (Paroxysmal NOCTURNAL Hbnuria)
DEFICIENCY OF B CELLS CAUSE diseases by 1.Capsulated microbacteria
2. Enteroviral encephalitis and
3.Giardiasis
2 and 3 are due to absence of mucosal defence IgA
DEFICIENCY OF T CELLS CAUSES
More of FUNGAL And VIRAL INFECTIONS
DEFICIENCY OF COMPLEMENT CAUSES
diseses with nesseria both meningococcus and gonococcus