Immunodeficiencies Part2 | Immunology | First Aid Lectures |Lec28 #drjameellectures #drjamillectures
Channel: Dr. Jamil Lectures
Date: 2022-04-17

In this lecture we will discuss about immunodeficiencies like severe combined immunodeficiency,ataxia-telangiectasia ,hyper-IgM syndrome,wiskott-aldrich syndrome.

https://youtu.be/6aBg0MX_al0
https://youtu.be/JXEc9imEoao
https://youtu.be/aP06bUvyqCA

Instagram account dr_jamil56


Severe combined immunodeficiency
Several types including 
defective IL-2R gamma 
chain (most common, 
X-linked recessive); adenosine 
deaminase deficiency
(autosomal recessive); 
RAG mutation  VDJ 
recombination defect
Failure to thrive, chronic 
diarrhea, thrush
Recurrent viral, bacterial, 
fungal, and protozoal 
infections
 T-cell receptor excision 
circles (TRECs)
Absence of thymic shadow 
(CXR), germinal centers 
(lymph node biopsy), and 
T cells (flow cytometry)
Ataxia-telangiectasia
Defects in ATM gene  failure 
to detect DNA damage 
 failure to halt progression 
of cell cycle  mutations 
accumulate; autosomal 
recessive
Triad: cerebellar defects 
(Ataxia), spider Angiomas
(telangiectasia A ), IgA
deficiency
 sensitivity to radiation (limit 
x-ray exposure)
 AFP
 IgA, IgG, and IgE
Lymphopenia, cerebellar 
atrophy
 risk of lymphoma and 
leukemia
Hyper-IgM syndrome
 Most commonly due to 
defective CD40L on Th cells 
 class switching defect; 
X-linked recessive
Severe pyogenic infections 
early in life; opportunistic 
infection with Pneumocystis, 
Cryptosporidium, CMV
Normal or  IgM
 IgG, IgA, IgE
Failure to make germinal 
centers
Wiskott-Aldrich 
syndrome
Mutation in WAS gene; 
leukocytes and platelets 
unable to reorganize actin 
cytoskeleton  defective 
antigen presentation; X-linked 
recessive
WATER: Wiskott-Aldrich: 
Thrombocytopenia, Eczema, 
Recurrent (pyogenic) 
infections
 risk of autoimmune disease 
and malignancy
 to normal IgG, IgM
 IgE, IgA
Fewer and smaller platelets


#drjamilectures
#drjameellectures
#usmlelectures
#plablectures
#nlelectures
#firstaidlectures
#immunologylectures
#immunologyfirstaidlectures