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autosomal dominant primary immunodeficiencies

Tuesday 5 February 2008

Types

- isolated congenital asplenia (MIM.271400)
- isolated chronic mucocutaneous candidiasis (MIM.114580)
- hyperIgE syndrome (MIM.147060)
- DiGeorge syndrome (MIM.188400)
- hereditary neutropenia CN/SCN (ELA2, GR1) (MIM.202700)
- WHIM syndrome (CXCR4) (MIM.193670)
- autosomal dominant agammaglobulinémie (LRRC8)
- partial IFNgamma-R1 deficiency (INFGR1 deficiency) (MIM.107470)
- partial Stat1 deficiency (STAT1 deficiency) (MIM.600555)
- autosomal dominant EDA-ID (IKBA)

References

- Lawrence T, Puel A, Reichenbach J, Ku CL, Chapgier A, Renner E, Minard-Colin V, Ouachée M, Casanova JL. Autosomal-dominant primary immunodeficiencies. Curr Opin Hematol. 2005 Jan;12(1):22-30. PMID: #15604887#