Wiskott Aldrich syndrome
Mutation in the WAS gene on the X chromosome that encodes a protein essential for actin cytoskeleton rearrangement that occurs during interactions between T lymphocytes, antigen presenting cells and B lymphocytes -> impaired innate and adaptive immune system
What are the symptoms of Wiskott Aldrich syndrome
Symptoms- eczema, thrombocytopenia, infections with encapsulated bacteria and opportunistic pathogens
- petechiae and bleeding from umbilicus after separations
- susceptible to infections with S. pneumo, N. meningitidis, H. flu and opportunistic infections
- increased risk for autoimmune disease and malignancy, particularly leukemia
Adenosine deaminase deficiency
Autosomal recessive mutations in the ADA gene
- can lead to development of SCID
Present with recurrent viral, bacterial and fungal infections starting at birth, failure to thrive and severe lymphopenia with impaired cellular and humoral immunity
Severe combined immunodeficiency
Mutations in IL2 receptor gamma chain
Present with recurrent viral, bacterial and fungal infections starting at birth, failure to thrive and severe lymphopenia with impaired cellular and humoral immunity
- Low levels of IgG, IgM, IgA
- high levels of IgE and eosinophilia
- low levels of T cells and B cells
Ataxia Telangiectasia
Autosomal recessive disorder resulting from a DNA repair defect
- increased susceptibility to hematologic malignancy such as Hodkin lymphoma
- progressive ataxia, telangiectasias, abnormal eye movements, decreased immunoglobulin concentrations (recurrent sinopulmonary infections)
Hyper IgE syndrome
defect in the JAK-STAT signaling pathway
- leads to impaired Th17 cell differentiation
- present with eczema and cutaneous cold abscesses
DiGeorge Syndrome
- caused by 22q11 deletion that leads to failure of the third and fourth brachial pouches to develop
-absence leads to thymic aplasia and hypocalcemia in the setting of cardiac and craniofacial defects - patients are susceptible to viral and fungal infections
X linked agammaglobulinemia
- caused by mutations in the BTK gene that encodes a tyrosine kinase essential for all stages of B lymphocyte development and proliferation
- present with recurrent infections and low or absent immunoglobulin concentrations
