Table 1.
Patient | ||||||||||||
---|---|---|---|---|---|---|---|---|---|---|---|---|
Clinical findings | A:II-3 | B:II-2 | C:II-2 | D:II-1 | E:II-1 | F:II-2 | G:III-1 | H:II-1 | I:II-2 | J:II-1 | K:II-1 | L:II-2 |
Sex | Female | Male | Male | Female | Male | Male | Female | Male | Male | Female | Male | Male |
Ethnicity | Caucasian | Caucasian | Caucasian | Arab | Caucasian | Brazilian | Caucasian | Caucasian | Caucasian | Caucasian | Caucasian | North Africa |
Age at last examination (years) | 3 11/12 | 15 1/12 | 1 8/12 | 1 10/12 | 2 3/12 | 17 7/12 | 13 | 11 | 29 | 6 6/12 | 9 11/12 | 9 9/12 |
Cognitive and motor development | ||||||||||||
Intellectual disability | + | + | + | + | + | + | + | + | + | + | + | + |
Speech impairment | + | + | + | + | + | + | + | + | + | + | + | + |
Delay in motor development | + | + | + | + | + | + | + | + | − | + | + | + |
Autistic features | + | − | + | − | − | − | + | + | − | − | − | − |
Dysmorphic features | ||||||||||||
Myopathic facial appearance | + | − | + | + | + | − | + | − | − | + | − | − |
Thin eyebrows | + | + | + | − | − | − | + | − | − | − | − | + |
Small palpebral fissures | + | + | + | − | + | − | + | − | + | + | − | − |
Hypertelorism | + | − | + | + | + | − | + | − | − | − | + | + |
Prominent nose | + | + | + | − | + | + | + | + | + | − | − | + |
Long philtrum | + | + | + | + | − | − | + | − | + | + | + | + |
Thin upper lip vermilion | + | + | + | + | + | + | + | + | + | − | + | + |
Other | ||||||||||||
Refractive error | Hyperopia | − | Hyperopia | − | − | Myopia | − | − | − | Myopia | Exotropia | − |
Dental anomalies | + | + | − | − | + | + | − | − | − | − | − | + |
Feeding difficulties | − | − | + | − | + | − | − | − | − | + | − | − |
Immune system function | ||||||||||||
Immune response | − | Frequent infectionsa | Frequent infectionsa | − | Low TREC at birth | Frequent/atypical infections | − | − | − | − | − | Frequent infectionsa |
Allergy/asthma | − | − | + | − | + | + | − | + | − | + | + | + |
BCL11B alteration | p.Gly820 Alafs*27 | p.Gly649Ala fs*67 | p.Ala891Pro fs*106 | p.Thr502His fs*15 | p.Asn807Lys | p.Cys81Leu fs*76 | p.Asp534Thr fs*29 | 46,XY,t(4;14) (p15;q32.1) | 46,XY,t(4;14) (q31.1;q32.2) | p.Glu499* | p.Tyr455* | p.Arg518Alafs*45 |
+ = present; − = absent; TREC = T cell receptor excision circles.
aReported by the family.