4A01.10
Severe combined immunodeficiencies
Imunodeficiências combinadas graves
CategoryDefinition
Severe combined immunodeficiency (SCID) comprises a group of rare monogenic primary immunodeficiency disorders characterised by a lack of functional peripheral T lymphocytes resulting in early-onset severe respiratory infections and failure to thrive.
Index Terms
Severe combined immunodeficienciesSCID - [Severe combined immunodeficiencies]severe combined immunodeficiency diseaseSevere combined immunodeficiency with reticular dysgenesisSevere combined immunodeficiency with leukopeniaCongenital aleukocytosisReticular dysgenesisDe Vaal diseaseSCID - [Severe combined immunodeficiencies] with reticular dysgenesisgeneralised haematopoietic hypoplasiaSevere combined immunodeficiency with low T- and B-cell numbersT- B- severe combined immunodeficiencySCID - [Severe combined immunodeficiencies] with low t- and b-cell numbersSevere combined immunodeficiency T- B- due to RAG1 deficiencySevere combined immunodeficiency T- B- due to recombination activating gene 1deficiencySCID - [severe combined immunodeficiency] T- B- due to RAG1 - [recombination-activating gene 1] deficiencySevere combined immunodeficiency T- B- due to RAG2 deficiencySevere combined immunodeficiency T- B- due to recombination activating gene 2 deficiencySCID - [severe combined immunodeficiency] T- B- due to RAG2 - [recombination-activating gene 2] deficiencySevere combined immunodeficiency with hypereosinophiliaOmenn syndromeSCID - [severe combined immunodeficiency] with hypereosinophiliaSCID - [Severe combined immunodeficiency] due to DCLRE1C- [DNA cross-link repair 1C] deficiencyAgammaglobulinaemia, alymphocytotic typeSCID - [Severe combined immunodeficiency], Athabaskan typeSCID - [Severe combined immunodeficiency] due to DNA cross-link repair protein 1C deficiencySCID - [Severe combined immunodeficiency] due to Artemis protein deficiencySevere combined immunodeficiency [SCID], alymphocytotic typeSevere combined immunodeficiency due to LCK deficiencySCID - [severe combined immunodeficiency due to LCK - [lymphocyte-specific protein tyrosine kinase] deficiencySCID - [Severe combined immunodeficiency] due to DNA-PKcs deficiencySCID - [Severe combined immunodeficiency] due to DNA-PKcs - [DNA-dependent protein kinase, catalytic subunit] deficiencySevere combined immunodeficiency T- B- due to adenosine deaminase deficiencyAdenosine deaminase deficiencyADA - [adenosine deaminase] deficiencyADA - [adenosine aminohydrolase] deficiencySCID - [severe combined immunodeficiency] T- B- due to adenosine deaminase deficiencyShort-limb skeletal dysplasia with severe combined immunodeficiencyImmunodeficiency with short limb dwarfismimmunodeficiency with short-limbed staturesevere combined immunodeficiency with short-limbed dwarfismAchondroplasia - severe combined immunodeficiencySCID - [severe combined immunodeficiency] with short-limbed dwarfismshort-limbed immunodeficiencyAchondroplasia or Swiss-type agammaglobulinaemialymphopenic agammaglobulinaemia - short-limbed dwarfism syndromeSevere combined immunodeficiency with low or normal B-cell numbersT- B+ severe combined immunodeficiencySCID - [severe combined immunodeficiency] with low or normal b-cell numbersSevere combined immunodeficiency T- B+ due to gamma chain deficiencySevere combined immunodeficiency T- B+, X-linkedSCID - [severe combined immunodeficiency] T- B+ due to gamma chain deficiencySevere combined immunodeficiency T- B+ due to JAK3 deficiencySCID - [severe combined immunodeficiency] T- B+ due to JAK3- [Janus kinase 3] deficiencySevere combined immunodeficiency T- B+ due to IL-7Ralpha deficiencySCID - [severe combined immunodeficiency] T- B+ due to IL-7Ralpha - [Interleukin 7 receptor alpha] deficiencySevere combined immunodeficiency T-B+ due to CD45 deficiencySCID - [severe combined immunodeficiency] T- B+ due to CD45 deficiencySevere combined immunodeficiency T- B+ due to CD3delta, CD3epsilon or CD3zetaSCID - [severe combined immunodeficiency] T- B+ due to CD3delta/CD3epsilon/CD3zetaSevere combined immunodeficiency due to CORO1A deficiencySCID - [severe combined immunodeficiency] due to coronin-1A deficiency