Rare Disease Library

Combined immunodeficiency-hypogammaglobulinemia-skeletal anomalies syndrome due to IKBKA deficiency

CID-hypogammaglobulinemia-skeletal anomalies syndrome due to IKBKA deficiency · Combined immunodeficiency-hypogammaglobulinemia-skeletal anomalies syndrome due to IkappaB kinase alpha deficiency

Agammaglobulinemia-early-onset hypertrophic cardiomyopathy-neutropenia syndrome

Syndromic agammaglobulinemia due to FNIP1 deficiency · Syndromic hypogammaglobulinemia due to FNIP1 deficiency

Agammaglobulinemia-skin involvement-failure to thrive syndrome

Hypogammaglobulinemia-skin involvement-failure to thrive syndrome · Syndromic agammaglobulinemia due to ZIP7 deficiency

Combined immunodeficiency-hypogammaglobulinemia-cancer predisposing syndrome due to AIOLOS deficiency

Combined immunodeficiency-hypogammaglobulinemia-cancer predisposing syndrome due to IKZF3 deficiency · CID-hypogammaglobulinemia-cancer predisposing syndrome due to AIOLOS deficiency

Hyper-IgM syndrome type 3

HIGM3 · Hyper-IgM syndrome due to CD40 deficiency

Skeletal dysplasia-T-cell immunodeficiency-developmental delay syndrome

Neuro-immuno-skeletal dysplasia syndrome due to EXTL3 deficiency · EXTL3-related neuro-immuno-skeletal dysplasia syndrome

Thymoma-hypogammaglobulinemia syndrome

Good syndrome

X-linked hyper-IgM syndrome

HIGM1 · Hyper-IgM syndrome due to CD40 ligand deficiency