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Immunodeficiencies

Hyper-IgE recurrent infection syndrome – DOCK8

December 8, 2020

Centromeric instability-facial anomalies syndrome – DNMT3B ZBTB24

December 8, 2020

Combined immunodeficiency, moderate – IL2RG

December 8, 2020

Combined immunodeficiency and megaloblastic anaemia with or without hyperhomocysteinemia – MTHFD1

December 8, 2020

Immunoglobulin A deficiency – TNFRSF13B

December 8, 2020

Immunodeficiency – ATP6AP1 CARD11 CD3D CD81 CTPS1 DOCK2 ICOS IKBKB IL12RB1 IL17RA IRF8 LRBA MALT1 ORAI1 PGM3 RORC SPNS1 STIM1 TNFRSF13B TYK2

December 8, 2020

Mycobacteriosis – CYBB IFNGR1 IFNGR2 STAT1

December 8, 2020

TCR-alpha/beta deficient – TRAC

December 8, 2020

Purine nucleoside phosphorylase deficiency – PNP

December 8, 2020

Hyper-IgM – CD40 CD40LG

December 8, 2020

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Royal Children’s Hospital
Flemington Road, Parkville, VIC 3052
P (03) 8341 6315 E info@gsnv.org.au

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