Table 1.
Phenotypes of eight CYBC1 p.Tyr2Ter homozygous individuals
| ID | Sex | YOB/D | GI symptoms | Burst testa | Heightb | Infections | Immunological |
|---|---|---|---|---|---|---|---|
| Ac | M | 1993 | CD (7); Mouth ulcer, B.cepacia Anal abscess, anal fistula, anal fissure (15); Infectious diarrhea (16) |
Abnormala | 172 (18) | Legionnaires‘ disease, Legionella (14); Local infections of skin, subcutaneous tissue (repeated); Viral infection (12); Accute suppurative otitis media (22) |
Acute inflammation of orbit (6); Acute lymphadenitis of face, head and neck (5); Acute pancreatitis (16); Pneumonia (16) |
| Bc | M | 1991/2009 | CDd (9); Cutaneous abscess, furuncle and carbuncle of buttock (16) |
Abnormala | 162 (17) | Bacterial intestinal infection, C.difficile (16); Candidal septicaemia, C.albicans (18); Viral intestinal infection (16); Suppurative otitis media (6) |
Hepatosplenomegaly (17); Acute pancreatitis (18) |
| C | M | 1985 | CD (12); Anal fissures (4, 7); Anal abscess (11) |
ND | 180 (25) | — | — |
| D | F | 1985 | — | Abnormala | 159 (30) | Herpese (25) | RF positive (21); Eczemae |
| E | M | 1980 | UC (14) | ND | 178 (37) | Onychomycosis (repeated) | — |
| F | M | 1980 | CDd (19) | ND | 173 (37) | Infectious diarrhea (34); Acnee (chronic); Herpese (15); Shingles, varicella zostere |
Chronic tonsillitis (5); Adenoid vegetations (5); Chronic nephritic syndrome (26) |
| G | F | 1955/2015 | — | ND | 159 (50) | Invasive pneumococcal disease, S.pneumoniae (positive blood culture) (30) | Interstitial pulmonary disease with fibrosis (56) |
| H | F | 1940 | — | ND | 156 (55) | Miliary tuberculosis, M.tuberculosis (13) | — |
Figures in parentheses () denote age at diagnosis or measurement, in years
YOB/D year of birth/death (rounded by 5 years for individuals C–H), GI gastrointestinal, CD Crohn’s disease, UC ulcerative colitis, CGD chronic granulomatous disease, ND not determined, RF rheumatoid factor
aBurst test for individual A and B was performed in 2008, burst test for individual D was performed in 2017
bAll heights are given in cm. Average and SD for height of Icelandic males and females is 178.8 ± 6.9 cm and 165.6 ± 6.3 cm, respectively35
cIndividuals A and B are brothers, presented in Fig. 1
dIndividuals B and F underwent total colectomy
eSelf-reported phenotypes (via an online questionnaire)