description
Primary immunodeficiencies (PIs) are a heterogeneous group of disorders, which affect cellular and humoral immunity or non-specific host defense mechanisms mediated by complement proteins, and cells such as phagocytes and natural killer (NK) cells. These disorders of the immune system cause increased susceptibility to infection, autoimmune disease, and malignancy. Most of PIs are due to genetic defects that affect cell maturation or function at different levels during hematopoiesis. Disruption of the cellular immunity is observed in patients with defects in T cells or both T and B cells. These cellular immunodeficiencies comprise 20% of all PIs. Disorders of humoral immunity affect B-cell differentiation and antibody production. They account for 70% of all PIs

external resources
NCBI:83125
KEGG:hsa05340
PUBMED:11941303
PUBMED:18093537
PUBMED:11058677
PUBMED:17952897
PUBMED:14699405
PUBMED:15661024
PUBMED:14647478
PUBMED:17960151
PUBMED:16261175

genes
ADA , AIRE , BTK , CD3D , CD3E , CD4 , CD8A , CD8B , CD19 , CD40 , CD40LG , CD79A , IGLL1 , IL2RG , IL7R , JAK3 , LCK , CIITA , PTPRC , RAG1 , RAG2 , RFX5 , RFXAP , TAP1 , TAP2 , UNG , ZAP70 , IKBKG , RFXANK , TNFRSF13B , BLNK , ICOS , AICDA , DCLRE1C , ORAI1 , TNFRSF13C ,