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Immunodeficiencies (Antibody Deficiencies (X-linked Agammaglobulinaemia…

- - - - X-linked mutation
      - Thrombocytopaenia, petechiae, recurrent bacterial infections
      - Abnormal B and T cells, low T-cell count
    - - mutation in ATM gene
      - staffering gait with abnormal vascular dilation
      - Typical telangiectasia (ear lobes, conjuctivae)
      - progressive cerebellar ataxia
    - - congenital thymic aplasia
      - 22q11 deletion, not inherited
      - no mature T cells in periphery
      - Hypocalcemia and Cardiac abnormalities
      - Dyspmorphic features - cleft palate, low-set ears, fish shaped mouth