PRIMARY IMMUNODEFICIENCY

DISEASES
BARRIENTOS, Eldy
DURONIO, Jorica Lynn
LIBERTAD, Jy-Rha
IMH Interns
Primary Immunodeficiency Disease

A disorder caused by an inherited flaw in the

immune system that increases the susceptibility to
infections

People with primary immunodeficiency are born

missing some of the body's immune defenses,
which leaves them more susceptible to germs that
can cause infections.
X-Linked Agammaglobulinemia
• Bruton's agammaglobulinemia
• occurs almost exclusively in males
• mutation in BTK gene which makes the BTK protein;
the absence of functional BTK protein blocks B cell
development and leads to a lack of antibodies
XLA often becomes apparent in infancy due to
recurrent and severe bacterial infections including:

• Ear infections
• Sinusitis
• Pneumonia
• Pyoderma
Diagnosis
XLA can be detected through screening tests
that measure immunoglobulin levels or the number of
B cells in the blood.
COMMON VARIABLE IMMUNE DEFICIENCY

• varying class of antibody affected

• failure in the differentiation of B cells
Signs and Symptoms
• recurrent infections
• enlarged lymph nodes
WISKOTT ALDRICH SYNDROME
• genetic defect in short arm of X chromosome that
produces WASp
• affects actin linkage and reorganization
• decreased Ab production due to decreased
polarization of T cells
Signs and Symptoms
• eczema
• thrombocytopenia (hallmark)
• immunodeficiency
SEVERE COMBINED IMMUNE DEFICIENCY

A serious condition in which babies are born with

reduced numbers of T- and B-lymphocytes, which
impairs their immune systemsand makes them
susceptible to severeinfections and cancer.
There are a number of different causes of SCID. Each is caused
by a different genetic defect, and each develops along a
different pathway:

• X-linked SCID, the most common type, a genetic flaw

damages molecules that allow T cells and B cells to
receive signals from crucial growth factors.

• ADA deficiency results from the lack of an enzyme

called adenosine deaminase (ADA) that helps cells,
especially immune cells, to get rid of toxic
byproducts. Without ADA, poisons build up and kill
the lymphocytes.
• Purine nucleoside phosphorylase (PNP) deficiency results
from a similar enzyme problem, but B cells are less affected
and the immunodeficiency is less severe, although
affected patients may have other problems (neurologic).

• MHC class II deficiency or bare lymphocyte syndrome.

MHC molecules are specialized proteins found on the
surface of body cells and play an important role in bone
marrow transplantation. Class II MHC molecules, which
appear on many immune cells, allow B cells and other
immune cells to recognize, interact with, and activate T
cells. Without this B cell/T cell communication, the immune
defenses are compromised.
Signs and Symptoms
• recurrent infections
Chédiak-Higashi Syndrome
• an autosomal recessive immunodeficiency disorder
characterized by abnormal intracellular protein
transport
• defect in LYST/CHG gene
• efect in protein trafficking in neutrophils, azurophilic
and specific granule fusion is abnormal, resulting to
impaired killing in phagocytosis
Signs and Symptoms
• recurrent infections
• albinism
DiGeorge Syndrome
• deletion in chromosome 22 q
• poorly developed thymus
• deficient in T cell number
Selective IgA deficiency
• defined as a primary immunodeficiency
characterized by an undetectable level of
immunoglobulin A (IgA) in the blood and secretions
but no other immunoglobulin deficiencies.
• maturation defect in B cells to produce IgA
Signs and Symptoms
• recurrent infections
• conjunctivitis
Leukocyte Adhesion Deficiency
• lack CD18
• impaired diapedesis
• caused by deficiency of adhesive glycoproteins on
the surfaces of WBCs
Signs and Symptoms
• recurrent infections
TYPES OF LAD
Leukocyte adhesion deficiency type 1
• deficient or defective beta-2 integrin family
• disorder that causes the immune system to malfunction,
resulting in a form of immunodeficiency.
• Immunodeficiencies are conditions in which the immune
system is not able to protect the body effectively from foreign
invaders such as viruses, bacteria, and fungi.
Signs and Symptoms
• delay in the detachment of the umbilical cord stump
after birth.
Leukocyte adhesion deficiency type 2
• defect in the expression of ligands for selectins due to lack of
enzymes required for expression of selectin ligands
Signs and Symptoms
• recurrent infections (more prominent in infants and
toddlers), severe growth and mental retardation.
JOBS SYNDROME

• Mutations in the STAT3 gene have been identified

in almost all cases of clinically verified
hyperimmunoglobulin E (IgE) syndrome (HIES)
• impaired chemotaxis due to decreased
production of IFN-y by the T cells
Signs and Symptoms
• recurrent infections