Table 5.
PIDs 
 SCID 
 CIDs 
 DiGeorge syndrome 
 Wiskott-Aldrich syndrome 
 Ataxia telangiectasia 
 Dyskeratosis congenita 
 ORAI-1 deficiency 
 Chronic granulomatous disease 
 Other PIDs 
 X-linked agammaglobulinemia 
 Autoimmune lymphoproliferative syndrome 
 STAT1 gain of function 
 CTLA4 
 GATA2 
 TRAPS 
 FMF 
 NEMO 
 TIM3 
 DOCK8 
 STAT2 
 STAT3 
 PIK3CD 
Inborn errors of metabolism 
 Lysinuric protein intolerance 
 Multiple sulfatase deficiency 
 Biotinidase deficiency 
 Lysosomal acid lipase deficiency/Wolman disease 
 Methylmalonic acidemia 
 Galactosemia 
 Gaucher disease 
 Pearson syndrome 
 Galactosialidosis 
 Propionic acidemia 
 Cobalamin C disease 
 Niemann-Pick disease 
 LCHAD deficiency 
Congenital disorders of glycosylation 
 COG6 
PIDs 
 SCID 
 CIDs 
 DiGeorge syndrome 
 Wiskott-Aldrich syndrome 
 Ataxia telangiectasia 
 Dyskeratosis congenita 
 ORAI-1 deficiency 
 Chronic granulomatous disease 
 Other PIDs 
 X-linked agammaglobulinemia 
 Autoimmune lymphoproliferative syndrome 
 STAT1 gain of function 
 CTLA4 
 GATA2 
 TRAPS 
 FMF 
 NEMO 
 TIM3 
 DOCK8 
 STAT2 
 STAT3 
 PIK3CD 
Inborn errors of metabolism 
 Lysinuric protein intolerance 
 Multiple sulfatase deficiency 
 Biotinidase deficiency 
 Lysosomal acid lipase deficiency/Wolman disease 
 Methylmalonic acidemia 
 Galactosemia 
 Gaucher disease 
 Pearson syndrome 
 Galactosialidosis 
 Propionic acidemia 
 Cobalamin C disease 
 Niemann-Pick disease 
 LCHAD deficiency 
Congenital disorders of glycosylation 
 COG6 

CID, combined immune deficiency; COG6, component of oligomeric Golgi complex 6; FMF, familial Mediterranean fever; LCHAD, long-chain 3-hydroxyacyl-coenzyme A dehydrogenase; TRAPS, tumor necrosis factor receptor–associated periodic syndrome.

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