Immunological abnormalities in CHARGE syndrome

CHARGE syndrome: a review of the immunological aspects

“…For 23 of 26 (88%) patients, T-cell lymphopenia was concomitant with T-cell dysfunction. 14,17,18,20,[22][23][24][25][26][27][28][29][30][31]33,[35][36][37] In our collected cohort, B-and/or NK-cell numbers were reported in only 29 of 59 patients, and of these 29 patients, 1 had low B-cell numbers, 1 had high B-cell numbers, 1 had low NK-cells numbers and 3 had high NK-cell numbers. The reported B-and NK-cells numbers of other patients were normal.…”

“…T-cell lymphopenia in our collected cohort was associated with thymic aplasia or hypoplasia in 21 of 22 (95%) patients. [18][19][20][21][22][23][24][25][26][27][28][29][30][31][32][33][34][35][36] T-cell function by response on mitogens was available for 28 of 59 patients and of these 28 patients 24 (86%) had a low or absent response on mitogen. For 23 of 26 (88%) patients, T-cell lymphopenia was concomitant with T-cell dysfunction.…”

“…14,17,[22][23][24][25][26][27][28][29]35,36 Thirteen of 33 (39%) patients with known immunoglobulin levels had IgG deficiency and 2 of these patients had received immunoglobulin replacement therapy. 14,[16][17][18][22][23][24][25][26][27][28][29]38 Of these 13 patients with IgG deficiency, 6 had recurrent or chronic infections and 1 had absent specific antibody responses. 14,[16][17][18]22,24,25 Isolated immunoglobulin deficiencies were rarely reported in CHARGE syndrome.…”

“…Facial palsy (100%) and growth retardation (100%) also seem to occur more frequently in our collected cohort, but we note that we only have clinical information on six and three patients, respectively. It should also be noted that two cases 29 were included in all three cohorts. As the differences found might be due to the predominance of truncating variants in our cohort, Table 3 shows the phenotypic comparison of patients carrying variants leading to a premature stop in CHD7 in our collected cohort (n = 23) and in that of Bergman et al 12 (n = 315).…”

Combined microdeletions and CHD7 mutation causing severe CHARGE/DiGeorge syndrome: clinical presentation and molecular investigation by array-CGH

“…2,3 A thorough literature review documented 17 patients with CHARGE and variable T-cell immunodeficiency, 4 with some cases having overlapping characteristics with DiGeorge syndrome, which in its classical presentation combines conotruncal heart defects, hypocalcemia and thymic hypoplasia. 4,5 No correlation between genotype and phenotype has been noted in CHARGE syndrome as shown from familial cases or large cohorts in which a CHD7 mutation was found. 2,3,[6][7][8] The role of possible modifying genetic or epigenetic factors in the phenotypic expression of T-cell immunodeficiency in CHARGE patients remains to be deciphered.…”