Primary Immunodeficiency Disorders Flashcards
Which cells are important in the innate immune system?
Macrophages
Neutrophils
Mast cells
NK cells
Which proteins are important in the innate immune system?
Complement
Acute phase proteins
Cytokines
Which three immunodeficiencies are caused by neutrophil defects?
Severe congenital neutropenia (Kostmann syndrome)
Leukocyte adhesion deficiency
Chronic granulomatous disease
What are the features of Kostmann syndrome?
Severe, chronic neutropenia from birth
Accumulation of neutrophil precursors in bone marrow
Recurrent infections with NO PUS formation
What are the features of leukocyte adhesion deficiency?
Failure of neutrophil adhesion and migration Marked leukocytosis (increased neutrophils)
What are the features of chronic granulomatous disease?
Defect in neutrophil killing
Excessive inflammation with lots of neutrophils failing to kill the pathogen –> granuloma formation
What is the general management of primary immunodeficiencies?
Avoid/treat infections
IV immunoglobulin therapy
Haemopoetic stem cell transplant
Where are B cells made and what do they do?
Made in bone marrow
Secrete antibodies as part of the adaptive immune response
Where are T cells made?
Made in bone marrow but mature in THYMUS
- CD4 + T cells
- CD8+ T cells
Which immunoglobulin passes across the placenta in 3rd trimester?
IgG
Which immunoglobulin is present in colostrum and breast milk?
IgA
What is transient hypogammaglobulinaemia of infancy?
Drop in maternal IgG and breast milk IgA at around 3 months before baby’s IgG production is sufficient
What causes severe combined immunodeficiency (SCID)?
Failure of lymphocyte (T + B cells) production in the bone marrow
What are the clinical features of SCID?
Unwell by 3 months (materal Ig runs out) Failure to thrive Persistent diarrhoea Infections of all types FHx of early infant death
What is the most common type of SCID?
X-linked
