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 |
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.