Primary Immunodeficiency Diseases Flashcards
Chronic granulomatous disease is what type of immunodeficiency disease?
Innate
Leukocytes Adhesion Deficiency-1/2 disease is what type of immunodeficiency disease?
Innate
Chediak-Higashi syndrome disease is what type of immunodeficiency disease?
Innate
X-linked and Autosomal recessive SCID disease is what type of immunodeficiency disease?
Lymphocyte maturation
X-llinked agammaglobulinemia disease is what type of immunodeficiency disease?
Lymphocyte maturation
DiGeorge syndrome disease is what type of immunodeficiency disease?
Lymphocyte maturation
Selective Ig deficiency disease is what type of immunodeficiency disease?
Lymphocyte maturation
X-linked and Autosomal hyper-IgM syndrome disease is what type of immunodeficiency disease?
lymphocyte activation and function
Common Variable Immunodeficiency disease is what type of immunodeficiency disease?
Lymphocyte activation and function
What is Wiscott-Aldrich syndrome?
X-chromosome protein Wiskott-Aldrich Syndrome protein (WASp) so a defect in signaling in T&B cells from cell membrane to cytoskeleton. Can have platelet abnormality.
What are TRECs and what stage of T cell development does it affect?
In VDJ recombination from Pro to Pre T-cell stage and found in mature T-cells so SCID will not have this
γc mutations are found in what immunodeficiency disease
X-linked SCID
What major cytokine is a major player in X-linked SCID
IL-7 a proliferation signal in Pro-Tcells
What enzymes are defective in Autosomal severe Combined Immunodeficiency?
ADA and PNP
What would happen to to B and T cells if RAG 1 and RAG 2 had mutations
This is a Autosomal SCID and unable to express functional Pre BCR/TCR leading to apoptosis
What protein is defective in X-linked agammaglobulinemia and what infection is expected?
BTK and encapsulated bacteria
What immunodeficiency cells would be in Digeorge syndrome?
Decreased T cells and normal Bcells but normal or reduced Ig (SCID)
What are the clinical aspects of DiGeorge Syndrome?
mnemonic CATCH 22 C- Cardiac defect A - abnormal facial features T- Thymic hypoplasia (3rd and 4th pharyngeal pouch absent C - Cleft palate H - hypocalcaemia 22- deletion in 22q11.2
What is the different about Common Variable Immunodeficiency?
Late onset so usually dx as an adult
What is abnormal about Hyper IgM syndromes?
Failure of class switching of IgM and somatic mutation, lack of memory B cells. Decreased B cells
What is the cause of Hyper IgM syndrome 2
mutation in AID so you can have differentiation in IgG or IgE
What is the treatment of all Hyper IgM syndromes?
IVIG replacement and antibiotic prophylaxis
What type of inheritance is Hyper IgM 2 and 3 syndrome (HIM2/3)
Autosomal
What type of inheritance is Hyper IgM 1 (HIM1)
X-linked
What type of mutation is found in HIM1
Mutation in CD40L (HIM1)
What type of mutation is found in HIM3
Mutation in CD40
What is the result of HIM syndromes
Weak B/T cell interactions because of defective class switching and so cell-mediated immunity (T to macrophage interaction)
What is mutated in Chronic Granulomatous disease? And how is it inherited
Phagocyte NADPH oxidase (X-linked)
What happens in Chronic Granulomatous Disease?
Inability of phagocytes to destroy certain bacteria and so constant T cell stimulation of macrophages leading to granuloma formation
What is the prognosis of Chronic Granulomatous Disease?
Average patient survives at least until 40 years of age
What type of inheritance is Chediak-Higashi Syndrome?
Autosomal recessive
What is the functional defect in Chediak-Higashi Syndrome?
defective lysosomal function in neutrophils, macropahges and dendritic cells and defective granule function in NK cels
What clinical aspects do you see in Chediak-Higashi Syndrome?
Oculocutaneous albinism (reduce pigmentation in iris), Coagulation defects and progressive neurological deterioration
What is the prognosis of Chediak-Higashi Syndrome?
Without transplant death of bacteria infection before 7 years of age and severe neurological defect by 20 y.o.
What type of inheritance is Leukocyte Adhesion Deficiencies (LAD)?
Autosomal recessive
What is the functional defect Leukocyte Adhesion Deficiencies (LAD)?
Failure of neutrophil recruitment to site of infection
What disease is seen Complement deficienceies in Early Classical Pathway (C1q,C1r,C1s,C4,C2)
SLE
What infections in Complement Late Classical Pathway (C3-C9)
Infections esp. Pneumococcal and H. Influenzae (C3) Neisseria (C5-c9: MAC)
What infection in Complement of Alternative pathway?
Neisseria infections esp. meningitis
What type of inheritance is for Complement deficiencies?
Autosomal recessive
What is important for people that are heterozygous for complement deficiencies?
Generally asymptomatic
In LAD2 what molecule is defected and what is the molecule used for?
selectins (rolling)
In LAD1 what type of molecule is defective? and what is the molecule used for?
integrins (adhesion)
What clinical features is seen in Wiskott-Aldrich syndrome
mnemonic TIE, Thromboncytopenia recurrent sinopulomary infections, eczema. IgM and IgG levels will be low
What type of immune cell fails to mature in Common variable immunodeficiency
B cell into a plasma cell
Having no IgG but normal T cell levels is found in what type of disease
X-linked agammaglobulimia
