Table 1.
Demographic and clinical features of published patients with LIG4 deficiency.
| Patient | Origin | Sex | Family | Age at dx (years) | Onset | Clinical features | Status | References |
|---|---|---|---|---|---|---|---|---|
| 1 (180BR) | Turkish-cypriot | Male | 14 | B-symptoms | Weight loss, anorexia, lethargy, pallor, lymphadenopathy, hepatosplenomegaly: Acute lymphoblastic leukemia | Died 8 months after radiotherapy | 6, 7 | |
| 2 | USA | Fem | 26 | Microcephaly and microsomy, lethargy and dizziness | Seckel syndrome. Cough, fever, pallor. | Died of pneumonia 2 months after chemotherapy | (8) | |
| 3 (411BR) | Germany | Male | 9 | Microcephaly | Dysmorphism, developmental delay and plantar warts. | Died at age 23 of lymphoma | (4, 9, 10) | |
| 4 (2303) | USA | Male | Sibling to 2304 | 46 | Microcephaly | Chronic skin conditions, photosensitivity, telangiectasia, sinusitis | NR | (9) |
| 5 (2304) | USA | Fem | Sibling to 2303 | 48 | Microcephaly | Dysmorphism, growth failure, respiratory infections, psoriasis | NR | (9) |
| 6 (99P0149) | Germany | Fem | Non-consang. | 9 | Microcephaly | Dysmorphism, dwarfism, mental delay, psoriasis | Alive and well 5 years after RIC HSCT from HLA-identical brother | (9, 11) |
| 7 (3703) | Canada | Male | First cousin died of brain tumor in early childhood | 4.75 | Acute leukemia | Microcephaly, dysmorphism, developmental delay, hypogonadism, leukemia | Died shortly after chemotherapy | (12) |
| 8 (SC2) | Turkish | Fem | Consang., heterozygous | 1.5 | Respiratory infections | Respiratory infections, candidiasis, chronic diarrhea, failure to thrive, fever | Died after conditioning, possibly due to veno-occlusive disease. | (13) |
| 9 (P2) | German | Fem | Sister to 10 | 0 | Microcephaly | Alive after HSCT | (14) | |
| 10 (P1) | German | Fem | Sister to 9 | 2 | Recurrent infections | Chronic diarrhea, recurrent infections, failure to thrive, autoimmune cytopenia | Died shortly after chemotherapy | (14) |
| 11 (P-1) | Morocco | Fem | Sister to 12 | 1.5 | Repeated infections since 3 months old | Microcephaly, otitis, bronchiolitis, pneumonia and sepsis | Died of EBV PTLD 50 days after HSCT | (2) |
| 12 (P-2) | Morocco | Fem | Sister to 11 | 0 | Microcephaly | Died of VOD 2 months after HSCT | (2) | |
| 13 | Japan | Fem | 14 | Mouth tumor, fever | Microcephaly, short stature, polydactyly, | Died after chemotherapy | (15) | |
| 14 | Canada | Fem | Non-consang. | 0.1 | Omenn syndrome | Microcephaly, low weight, rash, hepatosplenomegaly, lymphadenopathy, diarrhea. | Alive and well 3.5 y after full conditioning HSCT | (16) |
| 15 | Turkish | Fem | Consang., sister to 16 | 10 | Microcephaly, respiratory infections | Sinopulmonary recurrent infections | Alive and well after 2 RIC HSCTs | (8) |
| 16 | Turkish | Male | Consang., brother to 15 | 6 | Ecchymoses | Low weight, upper respiratory and urinary infections | Alive | (8) |
| 17 (F10) | Netherlands | Male | 0.25 | Microcephaly, dysmaturity, dysmorphism | Feeding difficulties, diarrhea, failure to thrive, icterus, tubulopathy, erythema | Died at 6 months of sepsis, respiratory insufficiency and severe gastrointestinal bleeding | (17, 18) | |
| 18 | USA | Fem | 34 | Dubowitz syndrome | Rectorrhagia | Died of metastatic anal cancer | (18, 19) | |
| 19 (F1.1) | Canada | Fem | Sister to 20 | 17.5 | Microcephaly | Small cerebral aneurysm, primary ovarian failure | Alive | (18) |
| 20 (F1.2) | Canada | Fem | Sister to 19 | 11.75 | Microcephaly | Atrial-ventricular septal defect, atrofphic kidney, rib hypoplasia, fusion of carpal bones, copper beaten skull, platybasia, abnormal C1 vertebrae, primary ovarian failure. | Alive | (18) |
| 21 (F2) | USA | Fem | 7.8 | Microcephaly, malformations | Anal atresia with rectovaginal fistula, esotropia. | Alive | (18) | |
| 22 (F3) | Australia | Fem | 2.1 | Microcephaly, hip dysplasia | Unilateral congenital hip dysplasia, cutis marmorata. | Alive. BMT | (18) | |
| 23 (F4) | UK | Fem | 2.5 | Microcephaly, psoriasis | Psoriasis | Alive | (18) | |
| 24 (F5) | USA | Male | 2 | Microcephaly, hip dysplasia | Unilateral congenital hip dysplasia. | Alive | (18) | |
| 25 (F6) | Germany | Fem | 2 | Microcephaly, hip dysplasia | Congenital hip dysplasia, 2/3 toe syndactyly, excessive vomiting | Alive | (18) | |
| 26 (F7) | USA | Fem | 3.67 | Microcephaly, growth failure | None | Alive | (18) | |
| 27 (F8) | UK | Fem | 1.75 | Microcephaly, growth failure | None | Alive | (18) | |
| 28 (F9) | Turkey | Male | 5.5 | Microcephaly, hypopigmentation | Hypopigmentation, hypermobile knees, single palmar crease, 2/3 toe syndactyly, sandal gap | Alive | (18) | |
| 29 (P2) | North America | Fem | Sibling to P1 and P3 | 13 | Recurrent pneumonias and sinusitis | Recurrent respiratory infections, microcephaly, short stature. | Alive | (5) |
| 30(P1) | North America | Male | Sibling to P2 and P3 | NA | NA | One walking pneumonia | Alive | (5) |
| 31 (P3) | North America | Fem | Sibling to P1 and P2 | NA | NA | Asymptomatic | Alive | (5) |
| 32 | Belarus | Fem | 2 | Stomatitis | Ulcerated stomatitis, encephalitis, lung and brain lymphoma. | Died of lymphoma | (20) | |
| 33 (C1) | African/Asian descent | Fem | 7 | Dysmorphic features, developmental delay | Respiratory infections, pancytopenia | Alive and well after HSCT | (21) | |
| 34 (C2) | Morocco | Male | Elder sister died at 18 mo. with pancytopenia | 9 | Chronic diarrhea | Chronic diarrhea, recurrent respiratory infections, hemorrhagic syndrome | Died of aplasia at age 10 | (21) |
| 35 | Syria | Fem | Consang. | 7 | Dysmorphic features and developmental delay | Recurrent sinopulmonary infections, urosepsis, urofacial syndrome | Died of pneumonia | (22) |
| 36 | Italy | Male | 6 | Complicated pneumonia | Recurrent upper respiratory infections since age 1, dysgammaglobulinemia | Alive | (23) | |
| 37 LRL | Mexico | Fem | Two brothers. 3 first cousins died of infections before age 2 | 0.75 | Pneumonia at 4 months | Died of lymphoma | This report | |
| 38 PRL | Mexico | Male | Two siblings | 1.5 | Pneumonia at 12 months | Died of lymphoma | This report | |
| 39 FRL | Mexico | Male | Two siblings | 1 | Pharyngoamigdal. at 2 months | Avascular necrosis of femoral head, overweight. | Alive and well | This report |
| 40 MGP | Mexico | Fem | Twin sister | 10 | Recurrent respiratory infections | Microcephaly, dysmorphism, developmental delay, recurrent infections, jaundice | Died | This report |
| 41 BGP | Mexico | Fem | Twin sister | 10 | Recurrent respiratory infections | Microcephaly, dysmorphism, developmental delay, recurrent infections, jaundice | Died | This report |
NR, Not reported.