Catalog
Combined immunodeficiencies
Link to WHO Definition
Combined immunodeficiencies – http://id.who.int/icd/entity/1616506198
Parents
Children
- Pancytopenia due to IKZF1 mutations
- Combined immunodeficiency due to DOCK8 deficiency
- Hyper-IgM syndrome due to CD40 deficiency
- Laron syndrome with immunodeficiency
- Combined immunodeficiency due to CRAC channel dysfunction
- Combined immunodeficiency T+ B+ due to partial RAG1 deficiency
- Severe T-cell immunodeficiency - congenital alopecia - nail dystrophy
- Combined immunodeficiency due to ZAP70 deficiency
- Immunodeficiency due to purine nucleoside phosphorylase deficiency
- X-linked immunodeficiency with magnesium defect, Epstein-Barr virus infection or neoplasia
- 4A01.12 Major histocompatibility complex class II deficiency
- Primary immunodeficiency with skin granulomas
- Absent thumb - short stature - immune deficiency
- Familial CD8 deficiency
- Combined immunodeficiency with facio-oculo-skeletal anomalies
- Hyper-IgM syndrome due to CD40 ligand deficiency
- 4A01.11 Major histocompatibility complex class I deficiency
- Combined immunodeficiency due to ORAI1 deficiency
- Combined immunodeficiency due to CD3 gamma deficiency
- Hyper-IgM syndrome without susceptibility to opportunistic infections
- Severe combined immunodeficiency - microcephaly - growth retardation - sensitivity to ionizing radiation
- Combined immunodeficiency due to STIM1 deficiency
- Corpus callosum agenesis – cataract – immunodeficiency
- 4A01.10 Severe combined immunodeficiencies
- Hyper-IgM syndrome with susceptibility to opportunistic infections
- DNA-ligase IV deficiency