Differential diagnosis The DDx is * Ataxia telangectasia * Artemis deficiency * Immunodeficiency 26 (PKCS gene deficiency) * LIG4 syndrome * Nijmegen breakage syndrome * Severe combined immunodeficiency with Cernunnos * X-linked agammaglobulinemia
RIDDLE syndrome
Kearns–Sayre syndrome
McGillivray syndrome
HAIR-AN syndrome
Bogart–Bacall syndrome
Witteveen–Kolk syndrome
CLOVES syndrome
RAPADILINO syndrome