Characteristics of patients expressing XIAPG466X and CD40LG219R
| Patient ID* . | XIAP mutation . | CD40LG mutation . | Status . | EBV† . | SM† (age in years at diagnosis) . | Hypo-γ‡ (age in years at diagnosis) . | Recurrent infections‡ . | Colitis . | Other manifestations . | Outcome (age in y) . |
|---|---|---|---|---|---|---|---|---|---|---|
| I-3 | ND | ND | Affected | ? | ? | ? | ? | + | ? | Died, colitis (27) |
| I-5 | ND | ND | Affected | ? | + | ? | + (measles) | − | Thrombocytopenia, anemia, fever, lymphadenopathies | Died, pneumonia (52) |
| II-5 | G466X | WT | Asymptomatic | + | − | − | − | − | − | Alive and well (42) |
| II-7 | G466X | G219R | Affected | + | + (22) | + (10-28) | + | − | Thrombocytopenia, fever, chronic hepatitis | Died (liver failure, 28), IVIG |
| III-1 | G466X | G219R | Affected | + | + (21) | + (21-30) | + | − | − | Alive and well, SM (32) |
| III-2 | G466X | G219R | Affected | + | + (8) | + (8-27) | + (EBV) | − | EBV-driven incomplete HLH, fever (8-11) | Alive and well, SM (29) |
| III-6 | G466X | G219R | Affected | + | + (4) | − | +(VZV, HSV) | + (12) | Anemia, lymphadenopathies | Alive, colitis (15) |
| Patient ID* . | XIAP mutation . | CD40LG mutation . | Status . | EBV† . | SM† (age in years at diagnosis) . | Hypo-γ‡ (age in years at diagnosis) . | Recurrent infections‡ . | Colitis . | Other manifestations . | Outcome (age in y) . |
|---|---|---|---|---|---|---|---|---|---|---|
| I-3 | ND | ND | Affected | ? | ? | ? | ? | + | ? | Died, colitis (27) |
| I-5 | ND | ND | Affected | ? | + | ? | + (measles) | − | Thrombocytopenia, anemia, fever, lymphadenopathies | Died, pneumonia (52) |
| II-5 | G466X | WT | Asymptomatic | + | − | − | − | − | − | Alive and well (42) |
| II-7 | G466X | G219R | Affected | + | + (22) | + (10-28) | + | − | Thrombocytopenia, fever, chronic hepatitis | Died (liver failure, 28), IVIG |
| III-1 | G466X | G219R | Affected | + | + (21) | + (21-30) | + | − | − | Alive and well, SM (32) |
| III-2 | G466X | G219R | Affected | + | + (8) | + (8-27) | + (EBV) | − | EBV-driven incomplete HLH, fever (8-11) | Alive and well, SM (29) |
| III-6 | G466X | G219R | Affected | + | + (4) | − | +(VZV, HSV) | + (12) | Anemia, lymphadenopathies | Alive, colitis (15) |
HLH indicates hemophagocytic lymphohistiocytosis; IM, infectious mononucleosis; HSV, herpes simplex virus; Hypo-γ, hypogammaglobulinemia; ND, not determined; SM, recurrent splenomegaly or hepatosplenomegaly; VZV, varicella zoster virus; ?, unknown; and WT, wild type.
Patient identification: The first number (Roman numeral) corresponds to the generation and the second (Arabic numerals) to the individual in the family (see the pedigree in Figure 1A).
Presence of IgG+ anti-VCA in the serum.
Viral and/or bacterial infections.