Table 1. Clinical and immunological findings in patients with CHARGE syndrome, as reported in the literature.
| Reference | n | Sex | Age | C | H | A | R Growth | Cognition | G | E Dysmorph | HL | SSC | Other and immunological symptoms | Thymus | T-cells | Mitogen response | B-cells | NK-cells | Immunoglobulins |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| A. CHARGE syndrome with proven variant in CHD7with functional effect | |||||||||||||||||||
| Sanlaville et al60 | 10a | M | 21 wg | + | + | + | U | U | − | + | U | + | − | U | U | U | U | U | |
| M | 21 wg | + | + | + | U | U | + | + | U | + | − | U | U | U | U | U | |||
| M | 23 wg | + | + | + | U | U | − | + | U | + | N | U | U | U | U | U | |||
| M | 23 wg | + | + | + | U | U | + | + | U | + | N | U | U | U | U | U | |||
| M | 28 wg | − | + | + | U | U | + | + | U | + | − | U | U | U | U | U | |||
| M | 29 wg | − | + | − | U | U | + | + | U | + | N | U | U | U | U | U | |||
| F | 29 wg | + | + | + | U | U | + | + | U | + | − | U | U | U | U | U | |||
| M | 29 wg | + | + | + | U | U | + | + | U | + | − | U | U | U | U | U | |||
| F | 32 wg | + | + | + | U | U | − | + | U | + | TE | − | U | U | U | U | U | ||
| F | 36 wg | − | − | + | U | U | − | + | U | + | TE | − | U | U | U | U | U | ||
| Writzl et al29 | 2 | M | 1 d | − | + | + | U | U | + | + | + | + | HP | − | − | N | N | Low IgG, high IgM and IgA | |
| M | 2 d | − | + | U | U | U | + | + | U | U | TE | U | Low | U | N | N | U | ||
| Sanka et al30 | 1 | F | 2 mo | + | + | U | U | U | U | U | + | U | TE | HP | − | Low | N | N | N |
| Gennery et al23 | 4 | F | 7 wk | + | + | U | U | + | U | + | U | U | − | − | − | N | N | Low IgA | |
| M | 4 mo | + | + | + | U | U | + | U | U | U | TE | U | − | − | N | N | Low IgG and IgA | ||
| M | 2.5 mo | + | + | + | U | U | + | + | U | U | CN, Omenn−like syndrome | − | Low | − | N | N | Low IgA, high IgE | ||
| F | at birth | − | + | U | U | U | U | + | U | U | Omenn-like syndrome | − | − | − | N | N | Low IgA | ||
| 3.5 mo | High | U | N | N | N | ||||||||||||||
| 5 mo | High | U | N | High | Low IgA | ||||||||||||||
| Hoover-Fong et al31 | 1 | M | 3 wk | − | + | + | U | U | − | + | + | + | TE | − | Low | − | N | N | U |
| Wincent et al75 | 2 | M | 1 y | + | + | − | U | − | + | + | U | U | CN, immune deficiency | HP | U | U | U | U | U |
| M | 1 y | + | + | + | + | + | + | + | + | + | CN | U | Low | U | U | U | U | ||
| Chopra et al32 | 3 | M | 16 d | + | + | U | U | U | U | + | + | U | TE | − | − | U | N | N | N |
| F | 12 mo | + | + | + | + | + | U | U | + | U | CN | HP | Low | N | N | N | N | ||
| F | 4 mo | + | + | U | U | U | U | U | + | U | − | Low | N | N | N | N | |||
| Jyonouchi et al14 | 10 | U | 2 y | U | U | U | U | U | U | U | U | U | Two patients died from rhinovirus pneumonia and overwhelming sepsis, respectively. Two patients with confirmed SCID phenotype | U | Low | U | N | N | N (3 y) |
| U | 3 mo | U | U | U | U | U | U | U | U | U | U | Low | U | N | N | Low IgG, IgM and IgA | |||
| U | 5 wk | U | U | U | U | U | U | U | U | U | U | Low | Low | N | N | Low IgA (3 mo) | |||
| U | 5 mo | U | U | U | U | U | U | U | U | U | U | Low | Low | N | N | Low IgG, IgM and IgA | |||
| U | 4 y | U | U | U | U | U | U | U | U | U | U | N | U | High | N | N | |||
| U | 2 mo | U | U | U | U | U | U | U | U | U | U | N | U | N | N | U | |||
| U | 1 wk | U | U | U | U | U | U | U | U | U | U | N | U | N | N | U | |||
| U | 4 mo | U | U | U | U | U | U | U | U | U | U | N | U | U | U | N | |||
| U | 7 y | U | U | U | U | U | U | U | U | U | U | N | U | N | N | Low IgM, absent IgA (8 y) | |||
| U | 6 y | U | U | U | U | U | U | U | U | U | U | U | U | U | U | Absent IgA | |||
| Kaliakatsos et al18 | 1 | M | 1 mo | + | + | + | U | U | + | + | U | + | CN, TE, Omenn-like syndrome, recurrent respiratory tract infections, septicaemia | − | Low | − | N | N | N |
| 7 mo | N | U | N | N | Low IgG, High IgE | ||||||||||||||
| Inoue et al33 | 1 | M | neonate | + | + | + | U | U | − | + | + | U | CN, TE | − | Low | Low | U | U | N |
| Assing et al34 | 1 | F | 1 mo | + | + | − | + | + | − | U | + | U | − | Low | U | N | N | N | |
| 2 mo | Low | U | N | N | N (3 mo) | ||||||||||||||
| 6 mo | Low | U | N | High | N (4 mo) | ||||||||||||||
| 14 mo | Low | U | N | High | N (13 mo) | ||||||||||||||
| 15 mo | Low | U | N | High | U | ||||||||||||||
| B. Clinically diagnosed CHARGE syndrome, CHD7 status unknown, but deletion 22q11.2 excluded | |||||||||||||||||||
| North et al16 | 1 | F | 4.5 y | + | + | + | + | + | + | + | + | U | Recurrent otitis media and sinusitis | U | N | U | U | U | Hypogammaglobulinaemia with low IgG2 |
| De Lonlay-Debeney et al19 | 5 | M | 17 d | + | + | + | − | + | − | + | U | U | CN | HP | N | U | U | U | U |
| M | 19 mo | + | + | + | + | + | + | + | + | U | CN | HP | U | U | U | U | U | ||
| F | 4 mo | + | − | + | + | + | − | + | + | U | CN | − | U | U | U | U | U | ||
| M | 6 mo | + | + | − | + | + | + | + | + | U | CN | − | − | U | U | U | U | ||
| F | 13 d | + | + | − | − | + | − | + | U | U | Sepsis, hepatic abscess | N | Low | U | U | U | U | ||
| Markert et al26, 27, 35, 36, Rice et al28 | 1 | M | 23 d | + | + | + | + | U | + | + | + | U | CN, TE | − | − | − | N | Low | Low IgA (41 d) |
| Squires et al37 | 1 | M | 3 mo | + | + | − | + | U | + | + | U | U | CN, TE | U | Low | Low | U | U | U |
| Markert et al36 | 1 | U | 14 d | + | + | + | U | U | + | U | U | U | U | − | Low | N | N | U | |
| 3 mo | Low | Low | U | U | High IgA | ||||||||||||||
| Markert et al26, Rice et al28 | 1 | M | 3 d | + | + | − | U | + | + | U | + | U | CN, TE | − | Low | U | Low | High | Not reliable because of treatment with immunoglobulins |
| 31 d | Low | Low | N | High | |||||||||||||||
| 44 d | Low | Low | N | High | |||||||||||||||
| 59 d | Low | U | N | N | |||||||||||||||
| Boudny et al24 | 1 | F | 6 mo | + | + | + | U | U | U | U | + | U | CN, dermatitis, ulcers colon, recurrent respiratory infections | − | Low | − | N | N | Low IgG, IgM and IgA |
| Theodoropoulos17 | 2 | F | 30 mo | + | + | + | + | + | U | + | + | U | Recurrent respiratory infections, bronchiolitis, pneumonia, otitis media, urticaria, allergy | U | N | N | N | N | Low IgG2 |
| M | 22 mo | + | + | + | + | U | − | + | + | U | CN, bronchiolitis, sinusitis, conjunctivitis, otitis media | U | Low | N | N | N | N | ||
| Markert et al27, Rice et al28 | 2 | U | 43 d | + | + | + | U | + | + | U | + | U | CN | U | Low | − | U | U | U |
| U | 41 d | + | + | + | U | + | U | U | + | U | U | − | − | U | U | U | |||
| Markert et al20,21 | 2 | M | 255 d | U | + | + | + | + | U | + | U | U | CN, dermatitis, infections | − | N | Low | U | U | U |
| 316 d | N | Low | U | U | U | ||||||||||||||
| M | 158 d | U | + | + | + | U | U | + | + | U | CN, dermatitis, sepsis, PCP | − | Low | Low (318 d) | U | U | High IgE | ||
| Markert et al21 | 1 | U | U | + | + | + | U | U | + | U | + | U | CN, dermatitis | − | Low | Low | U | U | U |
| Janda et al22 | 1 | M | 2 mo | + | + | + | + | U | + | + | U | U | TE, recurrent severe infections and septic shocks | − | − | − | U | U | Hypogammaglobulinaemia |
| Lee et al38 | 1 | M | 42 d | + | + | + | + | + | + | U | + | U | TE | − | U | U | U | U | Low |
| Chopra et al32 | 1 | F | 6 d | + | + | U | U | U | U | U | U | U | − | − | U | N | N | N | |
| C. Clinically diagnosed CHARGE syndrome, CHD7 and 22q11.2 deletion status unknown | |||||||||||||||||||
| Wood et al25 | 1 | M | 5 mo | − | + | + | U | U | + | + | U | U | CN, chronic enteric virus infection | HP | Low | Low | U | U | Treatment with immunogammaglobulins |
| Theodoropoulos17 | 1 | M | 3 y | + | + | + | + | U | U | + | U | U | CN, pneumonia, otitis media, conjunctivitis | U | Low | − | N | N | Low IgG1 |
Abbreviations: A, choanal atresia or stenosis, including cleft palate since these anomalies rarely occur together; C, coloboma or microphthalmia; CN, cranial nerve dysfunction; d, day(s); E, ear anomalies; F, female; G, genital anomalies; H, heart anomalies; HL, hearing loss; HP, hypoplasia; M, male; mo, month(s); N, normal; n, number of patients; PCP, Pneumocysitis carnii pneumonia; R, retardation in development and/or growth; SCID, severe combined immune deficiency; SSC, semicircular canals anomalies; TE, tracheoesophageal defects; U, unknown; wg, weeks of gestation; wk, week(s); y, year(s); +, present; −, absent (including thymic aplasia).
If available, absolute numbers of T cells, mitogen response, B cells and NK cells were used. Otherwise, the interpretations of the authors were followed.
a
Foetuses.