In Polish-German transborder NBS study (TREC and KREC assays) among 101 012 tested newborns (37 025 from Poland and 63 987 in Germany) two cases of atypical SCID/CID (both in Germany), two cases of autosomal recessive agammaglobulinemia (homozygous mutations in IGLL1 gene – one in Germany, one in Poland), one case of Nijmegen breakage syndrome (in Poland) were diagnosed. The gene discussed is IGLL1; the disease is Nijmegen breakage syndrome.