Table 1.
Clinical features of LRBA patients
| P1 | P2 | P3 | P4 | P5 | P6 | P7 | |
|---|---|---|---|---|---|---|---|
| Age of genetic diagnosis (year) | 15 | ND | 6 | 13 | 6 | 16 | 12 |
| Age at initial clinical admission (year) | 13 | 12 | 3 months | 11 | 5 | 15 | 12 |
| Gender | F | F | M | F | M | F | M |
| Consanguinity | + | – | – | + | + | + | – |
| Age onset (year) | 1 | 1 | Neonate | 1 | 3 | Asymptomatic | 8 |
| Duration of follow-up (year) | 2 | 4 | 5 | 5 | 2 | 2 | 3 |
| Final outcome | Deceased at age 16 | Deceased at age 14 | Deceased at age 4 | Alive | Alive | Alive | Alive |
| Clinical findings |
Enteropathy Anemia and thrombocytopenia Organomegaly Autoimmune thyroiditis Type I DM Demyelinated PNP Anal fissure/skin tags Intestinal pseudoobstruction |
Enteropathy Lymphadenopathy ITP AIHA Recurrent infections |
Type 1 DM Enteropathy Lymphadenopathy ITP Organomegaly ILD Recurrent infections (brother of P2) |
Enteropathy AIHA Atopic dermatitis Lymphadenopathy Growth failure Bronchiectasis Tubulopathy |
Enteropathy ITP Organomegaly Lymphadenopathy Recurrent infections |
Asymptomatic (sister of P5) |
Pancytopenia AIHA Lymphadenopathy Organomegaly ITP Chronic urticaria LIP |
| Infectious agents |
Acinetobacter Enterococcus Serratia marcescens Candida krusei |
ND |
Coronavirus OC43 Adenovirus EBV RSV Staphylococcus aureus Candida glabrata |
Coronavirus RSV Adenovirus |
Coronavirus CMV |
No documented infectious agent | CMV |
| Mutation | c.A8470C; c.T8471C; p.Ile2824Pr | ND |
c.3196del, c.7976G > C pAsp1053fs, p.Ser2659* (compound heterozygous) |
c.5505delT (p.Ile1836*) | c.675G > A p.Trp225* | c.675G > A p.Trp225* |
c.3028G > A; p.Q1010* c.7976G > C; p.S2659* compound heterozygous |
| Immunosuppressive agents |
Cyclosporine A Methylprednisolone |
Mycophenolate mofetil | None | Methylprednisolone | Mycophenolate mofetil | None |
Methyprednisolone Mycophenolate mofetil |
| IVIG replacement | – | + | + | + | + | – | + |
| HSCT | MSD | MSD (heterozygous for LRBA mutation) | Under donor survey for MUD HSCT | ||||
| Conditioning regimen |
Fludarabine Busulfan ATG |
Fludarabine Busulfan ATG |
|||||
| CD34 infusion | 8 × 106/kg | 7.2 × 106/kg | |||||
| Outcome | Died of sepsis | Died of pneumonia |
5 doses of abatacept Died of intracranial hemorrhage while planning MUD HSCT |
Uneventful at posttransplant 30 months |
-ITP secondary to CMV on posttransplant day 90, controlled by romiplostim -AIHA on posttransplant day 270 responsive to steroids, after which sirolimus is initiated -Uneventful in posttransplant 1 year under sirolimus and romiplostim |
Under follow-up | Abatacept for ILD |