Clinical and genetic characteristics of patients with COPZ1 mutations
| Patient . | DOB . | Sex . | Age at diagnosis . | Age at last follow-up (y) . | ANCs (per μL) before G-CSF therapy . | ANCs (per μL) on G-CSF therapy . | Severe bacterial infections . | Stomatitis gingivitis . | Maturation arrest of bone marrow (before rhG-CSF therapy) . | rhG-CSF therapy mean (or maximum) dose (μg/kg/d) . | Neurological symptoms . | Other extrahematological symptoms . | COPZ1 genotype cDNA and protein inheritance type . |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| 1 | 17 May 2003 | F | 1 mo of life | 17 | 440 | 2620 | Sepsis, purulent otitis, mucosal candidiasis, furuncle behind the ear, frequent acute respiratory infections, bronchitis, recurrent pneumonia, streptoderma, spleen microabscesses | Stomatitis, gingivitis | No | 10 | Atypical autism with intellectual disability | Atopic dermatitis, S-shaped scoliosis III-IV degree, varus deformity of both feet, chronic fibrous pulpitis | NM_016057: c.421C>T, NP_057141: p.Gln141Ter AR |
| 2 | 9 October 2011 | F | 9 d of life | 11 | 196 | 1320 | Pneumonia, sepsis of mixed etiology, acute enteritis, meningitis, herpes simplex infection, enterocolitis, osteomyelitis of the right iliac bone | Stomatitis, gingivitis | No | 30 | Atypical autism with intellectual disability | Atopic dermatitis, myopia, chronic right-sided sensorineural hearing loss, planovalgus deformity of both feet, chronic fibrous pulpitis, postthrombotic syndrome | NM_016057: c.421C>T, NP_057141: p.Gln141Ter AR |
| 3 | 4 November 2013 | F | 34 mo of life, reported neutropenia since 8 mo of life | 9 | 400 | 1700 | Otitis, cervical adenitis, laryngotracheitis, bacteriemia, Staphylococcus aureus facial cellulitis, EBV infection, gingivostomatitis, otitis, several upper respiratory and cutaneous infections | Stomatitis, 1 episode at young age | No | 4 (5) | None | Skin: equestrian cold panniculitis of the tights | NM_016057: c.394G>C, NP_057141: p.Gly132Arg AR |
| Patient . | DOB . | Sex . | Age at diagnosis . | Age at last follow-up (y) . | ANCs (per μL) before G-CSF therapy . | ANCs (per μL) on G-CSF therapy . | Severe bacterial infections . | Stomatitis gingivitis . | Maturation arrest of bone marrow (before rhG-CSF therapy) . | rhG-CSF therapy mean (or maximum) dose (μg/kg/d) . | Neurological symptoms . | Other extrahematological symptoms . | COPZ1 genotype cDNA and protein inheritance type . |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| 1 | 17 May 2003 | F | 1 mo of life | 17 | 440 | 2620 | Sepsis, purulent otitis, mucosal candidiasis, furuncle behind the ear, frequent acute respiratory infections, bronchitis, recurrent pneumonia, streptoderma, spleen microabscesses | Stomatitis, gingivitis | No | 10 | Atypical autism with intellectual disability | Atopic dermatitis, S-shaped scoliosis III-IV degree, varus deformity of both feet, chronic fibrous pulpitis | NM_016057: c.421C>T, NP_057141: p.Gln141Ter AR |
| 2 | 9 October 2011 | F | 9 d of life | 11 | 196 | 1320 | Pneumonia, sepsis of mixed etiology, acute enteritis, meningitis, herpes simplex infection, enterocolitis, osteomyelitis of the right iliac bone | Stomatitis, gingivitis | No | 30 | Atypical autism with intellectual disability | Atopic dermatitis, myopia, chronic right-sided sensorineural hearing loss, planovalgus deformity of both feet, chronic fibrous pulpitis, postthrombotic syndrome | NM_016057: c.421C>T, NP_057141: p.Gln141Ter AR |
| 3 | 4 November 2013 | F | 34 mo of life, reported neutropenia since 8 mo of life | 9 | 400 | 1700 | Otitis, cervical adenitis, laryngotracheitis, bacteriemia, Staphylococcus aureus facial cellulitis, EBV infection, gingivostomatitis, otitis, several upper respiratory and cutaneous infections | Stomatitis, 1 episode at young age | No | 4 (5) | None | Skin: equestrian cold panniculitis of the tights | NM_016057: c.394G>C, NP_057141: p.Gly132Arg AR |
ANC, absolute neutrophil count; AR, autosomal recessive; DOB, date of birth; EBV, Epstein-Barr virus; F, female.