Table 5.
Selected additional PIDs and inborn errors of metabolism that have been reported to be rarely complicated by HLH
| 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.