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What disease is caused in lymphocyte B cell differentiation?
Brutons x linked Agammaglobulinemia
What disease is caused in lymphocyte T cell differentiation?
Digeorges Syndrom (FLK)
Lack of thymus
What disease is caused in lymphocyte B and T cell differentiation?
Common Gamma Chain Deficiency; causing SCID
What causes Brutons X linked agammaglobulinemia?
Inability of pro/pre B cells to mature
Due to block after rearrangement of heavy gene b/c lack of btk (kinase)
What happens/clinical aspects occur with Brutons X linked agammaglobulinemia?
Virtual absence of ALL classes of Ig
Near absence of mature B cells
Lymph nodes are SMALL
NO TONSILS
What are the treatments for Brutons X linked agammaglobulinemia?
Injections of large amounts of IgG
What would happen if you had no thymus?
DiGeorges syndrome (FLK)
What is the inheritance pattern of DiGeorges syndrome?
Deleation in chromosome 22
Has been assoiciated with maternal alcohol consumption
What are the treatments for DiGeorges syndrome?
Fetal thymic transplantation
Bone marrow transplant
What are the etiological and immunlogical agents involved with DiGeorges
Look like an adult with HIV
Defective maturation of T cells, peripheral T cells low, none respsonsive PBL, suscitable to bacteria, fungi, virus
What occurs when both B and T cell maturation is blocked
SCID
How does SCID occur (x-linked)?
Failure of B and T cell differentiation
Gamme chain of IL-2R missing
How does SCID occur (autosommal recessive)?
Lack of Adenosine Deaminase or Purine Nucleotide Phosphorylase
Causes toxic build up of GTP and ATP metabolites; cells die of poisening
What is the treatment for SCID?
Bone marrow transplant
Adenisine Deaminase (ADA) gene therapy
What is the most common deficiency in the ability to class switch?
Selective IgA deficiency; common in caucasians
What are the clincal manifestations in IgA class switching deficiency?
Most Asymptomatic (as long as plenty of IgG present)
Infections where IgA is most protective; mucosal (GI, Respiratory)
What is the treatment for IgA class switching deficiency and what is the prognosis?
Supportive
Generally excellent
What is Hyper IgM Syndrom?
IgG and IgA deficiency
X-linked
Failure of heavy chain class switching; mutation of gene encoding CD40L; cannot activate Macrophages
DO NOT get allergies
What is the inheritance and clinical manifestation of Chronic Mucocutaneous Candidiases?
Both Male and Females, May be heritable
Infection, endocrine dysfunction, Addisons disease
What is the inheritance and clinical manifestation of Wiskott-Aldrich Syndrome?
X linked
Eczema, Thrombocytopenia, suscitable to bacterial, Early death
Normal thymus early