Table 2.
Patient list and indication for allo-HSCT.
| Patient ID/gender | PID subtype | PID name | Gene | Age at first symptoms/ clinical diagnosis (years) | Main complications before allo-HSCT | Indication for allo-HSCT |
|---|---|---|---|---|---|---|
| UPN 1/M | CID | CID | RAG 1 | 10/10 | Recurrent bacterial infections (ULRTI/meningitis)/colitis/LPD. Splenectomy | Worsening pancytopenia |
| UPN 2/M | PIRD | ALPS | TNFRSF | 5/16 | Recurrent AI cytopenia. Splenomegaly. Splenectomy | Refractory pancytopenia |
| UPN 3/M | PIRD | IDR with colitis | IL10RB | 1/15 | Relapsing DLBCL. Colitis | DLBCL (CR4) |
| UPN 4/M | CID | XL-HIGM | CD40L | 1/2 | Recurrent bacterial infections (ULRTI). Toxoplasmosis. Cholangitis. | Cryptosporidium cholangitis |
| UPN 5/M | CID | WAS | WASP | 2/3 | Recurrent bacterial infections (ULRTI). Vasculitis. AI cytopenia. DLBCL. Splenectomy | DLBCL (CR1) |
| UPN 6/M | CID | WAS | WASP | 1/3 | Recurrent bacterial infections (ULRTI). Vasculitis. Nephropathy. Renal transplantation | Vasculitis |
| UPN 8/M | CID | MST1 deficiency | MST1 | 6/8 | Recurrent bacterial infections (ULRTI). Disseminated moluscum | Worsening moluscum |
| UPN 9/M | CID | XL-HIGM | CD40L | 0/0 | Recurrent bacterial infections (ULRTI). PJP. Cholangitis | Cryptosporidium cholangitis |
| UPN 11/M | CID | CID | CD3E | 0/1 | Recurrent bacterial infections (ULRTI). DLBCL | DLBCL (CR1) |
| UPN 12/M | CID | APDS-1 | PIK3CD | 1/4 | Recurrent bacterial infections (ULRTI). AI cytopenia. Disseminated VZV. Splenectomy | Disseminated VZV |
| UPN 13/M | PIRD | unk | unk | 0/9 | Recurrent bacterial infections (ULRTI). AI cytopenia | Refractory pancytopenia |
| UPN 14/M | CID | WAS | WASP | 1/2 | Recurrent bacterial infections (ULRTI). Vasculitis. AI cytopenia. Splenectomy | Vasculitis |
| UPN 15/F | CID | CID | PRKDC | 1/9 | Recurrent bacterial infections (ULRTI). IFI. Arthritis. DLBCL | DLBCL (CR1) |
| UPN 16/M | Phag | CGD | CYB | 1/1 | IFI | CNS IA |
| UPN 17/M | Phag | CGD | CYB | 11/11 | IFI. Colitis. | IA |
| UPN 18/M | CID | WAS | WASP | 0/0 | Recurrent bacterial infections (ULRTI). AI cytopenia. Arthritis Disseminated moluscum. DLBCL. Splenectomy | DLBCL (CR1) |
| UPN 19/M | CID | CID | unk | 0/1 | Recurrent bacterial infections (ULRTI). Recurrent EBV reactivation. HLH. Relapsing DLBCL | DLBCL (CR2) |
| UPN 20/F | CID | CID | unk | 34/35 | Recurrent bacterial infections (ULRTI). Recurrent EBV T cell LPD | EBV positive T cell LPD |
| UPN 21/M | PIRD | PIRD | unk | 18/18 | Recurrent bacterial and fungal infection. Recurrent AI neutropenia. Recurrent T cell LPD. | Refractory neutropenia |
| UPN 22/M | PIRD | XLP-1 | SH2D1A | 11/11 | Recurrent bacterial infections (ULRTI). Severe aplastic anemia. Liver nodular regenerative hyperplasia. Recurrent EBV LPD. BL. | Recurrent EBV LPD |
| UPN 23/M | CID | XL-HIGM | CD40L | 0/5 | Recurrent bacterial infections (ULRTI). Toxoplasmosis. Cholangitis | Cryptosporidium cholangitis |
| UPN 24/M | CID | ADA deficiency | ADA | 1/1 | Recurrent bacterial infections (ULRTI). Recurrent EBV HL. Liposarcoma | Recurrent EBV HL (CR2) |
| UPN 25/M | Phag | CGD | CYB | 3/3 | IFI | lung and cardiac IA |
| UPN 26/M | Phag | CGD | CYB | 2/2 | IFI | Lung IA |
| UPN 27/M | CID | CID | unk | 2/3 | Recurrent bacterial infections (ULRTI). AI cytopenia. Recurrent T cell LPD. Splenectomy | Refractory neutropenia |
| UPN 28/M | CID | CID | unk | 2/3 | Recurrent bacterial infections (ULRTI). Meningitis. Colitis | Refractory colitis |
| UPN 29/M | PIRD | XLP-1 | SH2D1A | 4/4 | Recurrent bacterial infections (ULRTI). HLH. AI neutropenia. | Refractory neutropenia |
| UPN 30/M | Phag | CGD | CYB | 5/5 | Recurrent bacterial and fungal infections. Actinomycosis. Colitis | Actynomycosis |
| UPN 31/M | Phag | CGD | CYB | 2/2 | Recurrent bacterial and fungal infections. Inflammatory myopericarditis | Inflammatory myopericarditis |
| UPN 32/M | Phag | CGD | CYB | 1/1 | Recurrent bacterial and fungal infections. HLH | IFI. HLH |
| UPN 33/M | Phag | CGD | CYB | 14/14 | Recurrent bacterial and fungal infections. Colitis. ILD | ILD |
| UPN 34/M | Phag | CGD | CYB | 6/7 | Recurrent bacterial and fungal infections. | Lung and thyroid IA |
APDS Activated PI3K delta syndrome, ALPS autoimmune lymphoproliferative syndrome, AI autoimmune, CID combined immunodeficiency, CGD Chronic granulomatous disease, CR complete remission, CMV cytomegalovirus, DLBCL diffuse large B-cell lymphoma, EBV Epstein Barr virus, HLH Hemophagocytic lymphohistiocytosis, IDR Immune deregulation, IFI invasive fungal infection, IA invasive aspergillosis, ILD Interstitial lung disease, LPD lymphoproliferative disease, PIRD primary immune regulation disorders, Phag phagocyte impairment, PJP Pneumocystis jirovecii Pneumonia, ULRTI upper and low respiratory tractus infection, Unk unknown, VZV varicella-zoster virus, WAS Wiskott–Aldrich syndrome, XL-HIGM X-linked hyper IgM syndrome, XLP-1 X-linked lymphoproliferative disease type 1.