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Primary Immunodeficiency

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56 Classification of PPID X-linked due to mutation of gp91 phox cytochrome b 558 β chain) CYBB Autosomal recessive p22 phox (cytochrome b 558 α) CYBA p47 phox NCF1 p67 phox NCF2 p40 phox NCF4 MSMD IL-12/23 receptor β1 deficiency IL12RB1 IL-12 p40 deficiency IL12B IFN-γ receptor 1 deficiency IFNGR1 IFN-γ receptor 2 deficiency IFNGR2 STAT1 loss of function STAT1 Interferon regulatory factor 8 deficiency IRF8 Macrophage gp91 phox deficiency CYBB ISG15 ISG15 PAP CSF2RA, CSF2RB Defects of innate immunity GATA-2 deficiency (MonoMAC syndrome) GATA2 Anhidrotic ectodermal dysplasia with immunodeficiency (EDA-ID) X-linked, nuclear factor-κB (NEMO) deficiency IKBKG Inhibitor of κB α gain of function (EDA-ID, AD) IKBA TIR signaling pathways IL-4 receptor–associated kinase 4 deficiency IRAK4 MyD88 deficiency MYD88 RBCK1 (HOIL1) deficiency RBCK1 Type I interferonopathies Aicardi-Goutières syndrome 1 (AGS1), TREX1 deficiency TREX1 Table 11. Classification of Primary Immunodeficiencies a (cont'd) Defect or disease(s) Gene(s)

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