Bruton agammaglobulinemia, also known as X-linked agammaglobulinemia (XLA) or Bruton's agammaglobulinemia, is an inherited immunodeficiency disorder. It is characterized by the absence of mature B cells which in turn leads to severe antibody deficiency and recurrent infections.

1. PRESENTATION
NEHA
DIWAN
BRUTON'S
DISEASE
IMMUNODEFICIENCY DISORDERS

2. INTRODUCTION
Immunodeficiency is a state in which the immune system's ability to
fight infectious disease and cancer is compromised or entirely absent.
There are mainly two types of immunodeficiency disorders
1)PRIMARY IMMUNODEFICIENCY DISEASES – These are a group of
disorders in which the primary defect appears to be intrinsic to one or
more components of the immune system. CONGENITAL – gene
mutation Manifest on early age
2)SECONDARY IMMUNODEFICIENCY DISEASES – These are a group of
disorders acquired due to environmental factors such as drugs
,malnutrition ,infections, aging etc. Manifest in any age

3. ASADAL INTERNET, INC
Asadal has about 350 staffs including well experienced web designers, programmers, and
server engineers. started its business in Seoul Korea in February 1998 with the fundamental
goal of providing better internet services to the world.
ASADAL INTERNET, INC
Asadal has about 350 staffs including well experienced web
designers, programmers, and server engineers.
ASADAL INTERNET, INC
Asadal has about 350 staffs including well experienced web
designers, programmers, and server engineers.
ASADAL INTERNET, INC
Asadal has about 350 staffs including well experienced web
designers, programmers, and server engineers.
INSERT LOGO

4. INSERT LOGO
TYPES OF PRIMARY IMMUNODEFICIENCY DISEASES
THE B-CELL DEFICIENCY
DISESASES
THE T-CELL DEFICIENCY
DISEASES
COMPLEMENT SYSTEM
DEFICIENCY DISEASES
PHAGOCYTE DEFICIENCY
DISEASES

5. A + Gammaglobulin
+anemia
Deficiency of
gammaglobulin in
blood
X-Linked Agammaglobulinemia
BRUTON’S DISORDER
It’s a rare recessive inherited X-
linked genetic disorder
discovered in 1952 by Dr.Ogdan
Bruton caused due deficiency of
an enzyme called Bruton’s
tyrosine kinase
B-CELL
DEFICIENCY
DISEASE

6. INSERT LOGO
Affects males 50% of the time if mother is a carrier
for the gene.
Children are fine until 6–9 months of age due to presence
of immunoglobulin G circulating in the blood
Present with recurrent infections with Streptococcus pneumoniae,
Haemophilus influenzae, Mycoplasma pneumoniae, hepatitis virus, and
enterovirus CNS infections.
BTK is particularly responsible for mediating B-cell
development and maturation through a signaling effect on B-
cell receptor

8. Symptoms
Children with this disorder develop infections again and again
after 6 months of his/her life. Common infections include ones
that are due to bacteria such as Haemophilus influenzae,
pneumococci (Streptococcus pneumoniae), and staphylococci.
Common sites of infection include:
• Gastrointestinal tract
• Joints
• Lungs
• Skin
Upper respiratory tract
Lymphoid hypoplasia is significantly seen
Most of the immunoglobulins are gamma globulins, hence
decrees in all immunoglobulins is seen

9. • The XLA patients are susceptible to viruses of Enterovirus family ,i.e., polio,
coxsackie virus and
• This can lead to severe encephalitis , meningitis and death
• History of septic athritis may also be seen
• The patients are immune to Epstein Barr Virus (EBV) because of lack of HLA-co receptors in B ce

10. Diagnosis
• History of recurrent infections (most are RTI)
• Lack of B-cell marker - CD20 and CD19
• Low level of all antibodies - IgG, IgA, IgM, IgE and IgD
• Confirmation with Western Blot test to determine Btk proteins expression

11. Treatment
• IV immunoglobulins (mostly IgG) every 3-4 weeks for life
• Does not treat XLA but increases the life span of the patient
• For the prophylactic causes genetic counselling of the women with
familial history of XLA should be considered
• Antibiotics can be also used
• Live attenuated vaccines are contraindicated in such patients (polio,
measles, mumps, rubella), instead inactivated (polio) vaccines should
be given.

12. THANK YOU