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

3.Ataxia Telengiectasia     

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