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IMMUNODEFICIENCY DISCORDER, Viral Infections, Caused by a mutation in the…
IMMUNODEFICIENCY DISCORDER
PRIMARY
B cells
x-linked agammaglubulinemia (XLA)
Genetic Defect
mutation of the BTK gene located on the X chromosome, which encodes a tyrosine kinase that results in an arrest of B lymphocyte development at the pre-B stage.
Clinical Features
Become apparent in the first 6 to 9 months of age
The mother antibodies that across the placenta to the baby have been degraded
The infant that lack of mother antibodies will have recurrent upper respiratory tract
infections.
Normal immune response to viral infection because they have the intact T cells
Selective IgA deficiency
Definition
Selective IgA deficiency is an immune system condition in which Individual lacks/don’t have enough IgA to fight infections
Genetic defect
Unknown
Clinical features
Increase incidence of reoccurring sino pulmonary infections
Gastrointestinal disease
Increase association to allergies
Infected individuals are mainly asymptomatic
Immunoglobulin deficiency with increased IgM (HIGM)
Definition
Elevated levels of IgM causes a decrease in other antibodies (IgG,IgA, and IgE)
Resulted from defect in T-Helper cell which is required for B cell to switch
Also known as CD40 ligand (CD40L) deficiency
Genetic Defect
Defect CD40L
T cells expressing CD40L > signal to B cells > induce proliferation, immunoglobulin class switching antibody secretion
Clinical Features
Bacterial Infections, fungal-like infection, pneumocystis pneumonia
Phagocytic Disorder
Leukocyte Adhesion Deficiency (LAD)
Definition
Disorder in which phagocytes lack the cell surface molecules
therefore : cannot migrate to site of infection
unable to kill microbes
Patient with LAD present with severe bacteria infection that
spread rapidly
*especially : within the mouth and gastrointestinal fluids
Chediak Higashi Syndrome
Multi system immunodeficiency disorder
Result from dysfunctional neutrophils
Recognized by the present of giant cytoplasmic granules
Patient susceptible to a variety of pathogens including
bacteria, fungi and viruses
Definition
an autosomal recessive disorder that is characterized by easy bruising, oculocutaneous albinism and recurrent pyogenic infections.
Chronic granulomatous disease (GCD)
DEFINITION
Inherited disorder resulting from either a deficiency or defect
in NADPH oxidase complex
Children with this disease present with recurrent and
uncontrolled bacterial and fungal infection
description
Often Fatal
example :
-abnormal and dysfunctional neutrophils : present of giant cytoplasmic granules
Complement System Disorder
commonly present as recurrent bacterial infection
C1 Inhibitor Deficiency
C5-C9 Deficiences
C1, C2 or C4 Deficiency
Decay Accelerating factor
Deficiencies in the alternative pathway
Definition
primary immunodeficiencies that cause various clinical scenarios
depending on the specific complement protein that is deficient.
Viral Infections
Secondary
Normal physiological changes
Hormonal changes that occur during
Pregnancies
Aging
Abnormal production of immunological effectors
Production of abnormal immunological factors
Tumor
Malignancies
Therapeutic Drug
Administration of very toxic drugs
Destroyed normal cell (proliferating normal cell)
Nonspeciific immunosuppression
Malnutrition and disease
Both cellular and humoral immunity affected
Deficiency of vitamins and cofactor
Acquired immunodeficiency disorder
Immunosuppressive treatments
Cytotoxic chemotherapy
Bone marrow ablation
Radiation therapy
Prolonged serious illness
Systemic disorders
HIV infection
Malnutrition
Diabetes
AIDS
Caused by a mutation in the BTK (Bruton’s tyrosine kinase) gene
Description
BTK is required for the development of B cells and the production of antibodies.
The mutation of gene is located in X chromosome
male (XY) who inherit the defective gene (X chromosome) will present with this disorder
Cinical Features
