From: Pitfalls of immunotherapy: lessons from a patient with CTLA-4 haploinsufficiency
Individual | III.1 (proband) | III.2 | II.1 | II.2 | I.1 |
---|---|---|---|---|---|
Birth year | 1993 | 1995 | N/A | 1975 | N/A |
Diagnosis (age) | CHAI (23) | CHAI (22) | N/A | CHAI (43) | N/A |
Autoimmune/infective manifestations (age at onset, if known) | RRMS (19) ILD (21) HGG (23) Melanoma (23) Recurrent LRTI (23) HPV: CIN II/VIN III Villous atrophy Lymphocytic colitis (22) Autoimmune cytopenia ITP (21), neutropenia (23) | Lymphocytic panenteritis (11) Autoimmune thyroiditis (~ 17) HGG (17) SPI HPV: Warts Herpes zoster | HGG SPI Alopecia universalis (16) ILD NHL | Chronic sinusitis (turbinectomy 45) Transient GIT disturbances—no diagnosis (40) Alopecia universalis (29) | Presumed spongiform encephalopathy (77) |
Other manifestations | B12 deficiency (23) Osteoporosis (24) Allergic rhinitis (childhood) Asthma (childhood) Eczema (childhood) | Osteopenia Delayed puberty Eczema Acne | Presumed drug-induced cardiomyopathy Asthma | Asthma Allergic rhinitis | NA |
Histological features | Enteric biopsies: intraepithelial lymphocytosis and villous atrophy | Gastric/colonic: panenteric lymphocytic infiltration with flattening of villus architecture. | N/A | N/A | N/A |
Treatments | Methotrexate—current Prednisolone—current IVIg—current Fingolimod (ITP) Natalizumab (ILD) Daclizumab (neutropenia) | 6-Mercaptopurine: pancreatitis IVIg—current | N/A | Nil | N/A |