Background
Case presentation
Patient ID (Family) | Ethnicity | Consanguinity | Sex/Agea | Neurological phenotype | Immunological phenotype | Skeletal phenotype | Other | Outcome | Genotype |
---|---|---|---|---|---|---|---|---|---|
P1 (A) | Turkish | Yes | F/at birth | NA | T− SCID | Short limb dwarfism, severe platyspondyly, metaphyseal changes, brachydactyly | Facial dysmorphism, liver cysts | Deceased at 7 weeks | c.1537C > T (p. Arg513Cys) |
P2 (B) | Turkish | Yes | M/6 months | Severe ID | T− SCID (Omenn like SCID) | Short limb dwarfism, epiphyseal abnormalities, brachydactyly | Facial dysmorphism | n.d | c.2008 T > G (p. Tyr670Asp) |
P3 (B) | Turkish | Yes | F/at birth | Severe ID | T− SCID (Omenn like SCID) | Short limb dwarfism, severe platyspondyly, epiphyseal abnormalities, brachydactyly | Facial dysmorphism | n.d | c.2008 T > G (p. Tyr670Asp) |
P4 (C) | Columbian (South America) | Possibly | F/at birth | ID | None | Short limb dwarfism, severe platyspondyly, lumbar gibbus, kyphoscoliosis, epiphyseal abnormalities | Facial dysmorphism | n.d | c.1382C > T (p. Pro461Leu) |
P5 (D) | Portuguese | Possibly | M/at birth | Borderline cognition | None | Short limb dwarfism, severe platyspondyly, lumbar gibbus, kyphoscoliosis, odontoid hypoplasia, cervical instability, epiphyseal abnormalities, brachydactyly | Facial dysmorphism | Deceased at 30 years | c.1382C > T (p. Pro461Leu) |
P6 (D) | Portuguese | Possibly | F/at birth | None | None | Short limb dwarfism, severe platyspondyly, lumbar gibbus, kyphoscoliosis, odontoid hypoplasia, cervical instability, epiphyseal abnormalities, brachydactyly | Facial dysmorphism | n.d | c.1382C > T (p. Pro461Leu) |
P7 (D) | Portuguese | Possibly | F/n.d | None | None | Short limb dwarfism, severe platyspondyly, lumbar gibbus, kyphoscoliosis, epiphyseal abnormalities | Facial dysmorphism | n.d | c.1382C > T (p. Pro461Leu) |
P8 (E) | Indian | No | M/at birth | NA | Omenn like SCID | Short limb dwarfism, severe platyspondyly, odontoid hypoplasia, cervical instability, metaphyseal changes | Facial dysmorphism, liver cysts | Deceased at 6 months | c.1970A > G (p. Asn657Ser) |
P9 (E) | Indian | No | M/at birth | NA | Omenn like SCID | Short limb dwarfism, severe platyspondyly, metaphyseal changes | Facial dysmorphism, liver cysts | Deceased at 10 months | c.1970A > G (p. Asn657Ser) |
P10 (F) | Turkish | No | F/8.5 months | Motor delay, hypotonia, hyporeflexia | Recurrent pulmonary infections, dental caries, reduced IgM, IgG, T cells | Short limb dwarfism, elbow contractures, severe platyspondyly, kyphoscoliosis, pelvic dysplasia, broad thorax, broad ischia and pubes, constriction of proximal femora, brachydactyly, cord compression at craniovertebral junction | Facial dysmorphism, enlarged liver with few cystic lesions | n.d | c.953C > T (p. Pro318Leu) |
P11 (G) | Turkish | Yes | F/8 months | Gross motor delay | Oral candidiasis | Short limb dwarfism, severe platyspondyly, kyphoscoliosis, pelvic dysplasia, constriction of proximal femora, brachydactyly, cord compression at craniovertebral junction | Facial dysmorphism, mitral valve prolapse, multiple liver cysts | n.d | c.953C > T (p. Pro318Leu) |
P12 (H) | North African | n.d | M/at birth | Opisthotonos, hyperreflexia, seizures, DD, premature craniosynostosis | Omenn syndrome, hypogammaglobulinemia, increased IgE, sepsis, generalized exfoliative dermatitis, | Short limb dwarfism, severe platyspondyly, narrow sacro-ischiatic notches, trident-shaped, acetabula, short and plump limb bones, brachydactyly, cord compression | Severe narrowing of the laryngotracheal tract, liver cysts, death due to recurrent infections | Deceased at 11 months | c.1015C > T (p. Arg339Trp) |
P13 (H) | North African | n.d | F/at birth | Clonic arm movements, nystagmus, developmental arrest, clover leaf skull | Sepsis, T−B+NK+SCID, hypogammaglobulinemia, increased IgE | Short limb dwarfism, severe platyspondyly, narrow sacro-ischiatic notches, trident-shaped, acetabula, short and plump limb bones, brachydactyly, cord compression | Severe narrowing of the laryngotracheal tract, liver cysts, anal atresia, death due to recurrent infections | Deceased at 7 months | c.1015C > T (p. Arg339Trp) |
P14 (I) | Hispanic | No | F/at birth | Hypotonia, DD | Recurrent bilateral chalazion, recurrent blepharitis, T−B+NK+SCID Partial recovery documented in the course | Short limb dwarfism, severe platyspondyly, narrow sacro-ischiatic notches, trident-shaped, acetabula, short and plump limb bones, brachydactyly, cord compression | Facial dysmorphism, failure to thrive | n.d | c.1382C > T (p. Pro461Leu) |
P15 (J) | Indian | Yes | F/15 months | DD, hypotonia | None | Short-limb dwarfism, trident hand, gibbus, elbow contractures, wrist laxity, snail-like pelvis, trident pelvis, severe platyspondyly, short stout long bones, convex metaphyseal ends, coxa valga, odontoid hypoplasia, delayed BA; cord compression at craniovertebral junction | Facial dysmorphism | apresent case | c.953C > T (p. Pro318Leu) |