Bruton's disease presentation by Neha Diwan

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  

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4. 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. 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

7. 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

8. 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 cells which is needed to cause infection.

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

10. 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.

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