. Defects of adaptive immunity .

Primary Antibody Deficiencies (PAD) Panel [41 genes]

Primary antibody deficiencies (PAD) are the most common of all primary immune deficiencies (PID), and they are caused by genetic defects that disrupt B cell development, B cell differentiation, or class switch recombination, ultimately leading to defective antibody production and hypogammaglobulinemia. PADs include diseases such as agammaglobulinemia, hyper IgM syndrome, common variable immunodeficiency (CVID), and other selective antibody deficiencies (SAD).

Clinical features

  • Bacterial infections (respiratory, gastrointestinal, skin)
  • Agamma/hypogammaglobulinemia
  • Chronic inflammation, autoimmunity can be present
  • Onset: infancy (XLA, HIGM); adulthood (CVID)

Prevalence

  • 1:500 (IgA deficiency)
  • 1:25,000 (CVID)
  • 1:200,000 (XLA)
  • 1:500,000 (HIGM)
  • 55% of all PID

Service benefits and management

  • Differential diagnosis: cystic fibrosis, HIV, bronchiectasis, Crohn’s disease
  • Genetic counselling
  • Ig replacement (VIG)
  • Antibiotic prophylaxis
  • Avoid corticoids in HIGM

AICDA, ATP6AP1, BLNK, BTK, CARD11, CD19, CD40, CD40LG, CD79A, CD79B, CD81, CR2, CTLA4, CXCR4, ICOS, IGLL1, IKZF1, IL21, INO80, IRF2BP2, LRBA, LRRC8A, MOGS, MS4A1, MSH6, NFKB1, NFKB2, PIK3CD, PIK3R1, PLCG2, PMS2, PTEN, SEC61A1, TCF3, TNFRSF13B, TNFRSF13C, TNFSF12, TNFSF13, TRNT1, TTC37, UNG

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