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1. Presentation Topic:
Genetic Disorders of “ Immune System”
Submitted to: Mam Samra Shams
Group-1

2. Aqsa Nadeem
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Lead by:
Munawar Ali
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Umair Aslam
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Rabail Mujahid
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Tehseen Sajid
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Talha Shahid Butt
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3. Immune system
&
Immune system
Disorders
Genetic Disorders of
immune system
Genetic control and
Genetic Disorders of
Immune System
Immunodeficiency
Classification of
Primary
Immunodeficiency
Types of
Immunodeficiency

4. Are you ready!
Let’s get started….

5. The immune system is a complex network of organs, cells and proteins that
defends the body against infection, while protecting the body's own cells.
Parts of the immune system
• white blood cells
• Bone marrow
• antibodies
• Spleen
• Thymus
• Lymphatic system
Immune System

6. Immune system disorder, any of various failures in the body’s defense mechanisms
against infectious organisms.
Immune deficiency disorders result from defects that occur in immune
mechanisms.
The defects arise in the components of the immune system, such as the white
blood cells involved in immune responses (T and B lymphocytes ) and the
complement proteins, for a number of reasons.
Immune System
Disorders

7. Many genes are involved in governing susceptibility or resistance to immune
system disease. Such as
Interleukin-2
• It increases the growth and activity of T and B cells
• And affects the development of the immune system
Genetic Control of
immune system

8. The disorders which are result from genetic mutations in immune system
components that are passed from parent to child.
also called as hereditary disorders of immune system.
Disorders of immunity include immune deficiency diseases/ syndromes.
Genetic Disorders
of immune system

9. Immunodeficiency is a state in which the immune system’s ability to fight
infectious disease and cancer is compromised or entirely absent.
Types
• Primary Immunodeficiency
• Secondary Immunodeficiency
Immunodeficiency

10. Primary
Immunodeficiency
Types
Genetically determined
6 months to 2 years of life
Usually seen in infants and
young children
more than 200 different forms
of primary immune deficiency
diseases (PIDs).
Secondary
Immunodeficiency
Other than genetic factors
Due to infections
Malnutrition
Aging
autoimmune
It generally developed later in
life

11. Classification of the PIDs
Inherited Primary
Immunodeficiency Disorders
Specific Non-specific
Combined Immunodeficiency
e.g. Severe combined immunodeficiency
Cell mediated
Deficiency
e.g. DiGeorge
syndrome
Antibody Deficiency
e.g. common variable
immunodeficiency
Complements
defects
Neutrophil Defects
e.g. Chronic
Granulomatous disease
Immune Dysregulation
e.g. Hyper IgM disease

12. PIDs
Bruto
n’s
Disease
BENTA
disease
Chronic
Granuloma
tous
Disease
DiGeorge
Syndrome
Hyper
IgM
syndrom
es
Wiskott-
Aldrich
Syndrome

13. BENTA disease is a rare genetic disorder of the immune system caused by
mutations in the gene CARD11.
The disease is characterized by
• high levels of certain immune cells starting in infancy,
• an enlarged spleen
• enlarged lymph nodes
• immunodeficiency
• and an elevated risk of lymphoma, a type of cancer.
BENTA disease

14. CGD occurs when white blood cells called phagocytes are unable to kill certain
bacteria and fungi.
Making people highly susceptible to some bacterial and fungal infections.
Symptoms
• Vomiting.
• Diarrhea.
• Stomach pain.
• Fever
• Swelling and redness in the mouth.
• Chest pain when inhaling or exhaling.
Chronic Granulomatous
Disease (CGD)

15. Able to make IgM but not IgG, IgA, IgE and IgD antibodies.
X-linked hyper IgM syndrome is caused by a variation in the CD40LD gene (CD40
ligand gene).
Symptoms of HIgM syndrome may include:
• Inflammatory bowel disease
• Kidney disease
• Neurological symptoms
• Certain forms of cancer (liver cancer).
• Enlarged lymph nodes and spleen
Hyper IgM syndrome

16. Wiskott-Aldrich syndrome is a rare genetic immunodeficiency
It also makes it difficult for a child's bone marrow to produce platelets, making a
child prone to bleeding.
This bleeding can occur:
• under the skin
• from the nose
• from mouth
• in the brain
Wiskott-Aldrich
Syndrome

17. X-linked Agammaglobulinemia (Bruton's Disease).
Failure of B-cell precursors to differentiate.
Normally, heavy-chain rearranged first then the light-chain.
Maturation stops after heavy-chain rearrangement.
No light chain produced no complete immunoglobulin.
Mutations in cytoplasmic tyrosine kinase (Bruton tyrosine kinase - Btk)
- signal transduction that drive maturation.
Bruton's Disease

19. Cell mediated deficiency syndrome
Partial or total deletion of genes
Variable loss of T cells mediated immunity
Abnormal physical appearance
Low level of T cells
Poor defense against viral and fungal infections
DiGeorge syndrome

21. • https://www.niaid.nih.gov/diseases-conditions/types-pidds
• https://www.chop.edu/conditions-diseases/hyper-igm-syndromes
• https://www.researchgate.net/figure/Type-of-primary-
immunodeficiency-diseases
• www.youtube/human-health&disease/unacademy.com
• https://www.childrenshospital.org/conditions/wiskott-aldrich-
syndrome
• www.slideshare/genetic-disorders-ofimmunesytem.com
References

22. Any Query?