Rare Disease Library

Severe combined immunodeficiency due to DCLRE1C deficiency

SCID due to DCLRE1C deficiency · Severe combined immunodeficiency due to ARTEMIS deficiency

Severe combined immunodeficiency due to DNA-PKcs deficiency

SCID due to DNA-PKcs deficiency

Severe combined immunodeficiency due to FOXN1 deficiency

Alymphoid cystic thymic dysgenesis · Nude/SCID

Severe combined immunodeficiency due to LAT deficiency

SCID due to LAT deficiency

Short-limb skeletal dysplasia with severe combined immunodeficiency

Achondroplasia-SCID syndrome · Achondroplasia-Swiss type agammaglobulinemia syndrome

Syndome with combined immunodeficiency due to thymic defect

Syndrome with combined immunodeficiency

T-B- severe combined immunodeficiency

T-B- SCID

T-B+ severe combined immunodeficiency

T-B+ SCID

T-B+ severe combined immunodeficiency due to CD3delta/CD3epsilon/CD3zeta

T-B+ SCID due to CD3delta/CD3epsilon/CD3zeta

T-B+ severe combined immunodeficiency due to CD45 deficiency

T-B+ SCID due to CD45 deficiency

T-B+ severe combined immunodeficiency due to IL-7Ralpha deficiency

T-B+ SCID due to IL-7Ralpha deficiency

T-B+ severe combined immunodeficiency due to JAK3 deficiency

T-B+ SCID due to JAK3 deficiency

T+ B+ severe combined immunodeficiency

X-linked combined immunodeficiency due to SASH3 deficiency

X-linked CID due to SASH3 deficiency

X-linked common variable immunodeficiency phenotype due to SH3KBP1 deficiency

X-linked CVID phenotype due to SH3KBP1 deficiency · X-linked common variable immunodeficiency phenotype due to SH3-domain kinase-binding protein 1 deficiency

X-linked immune dysregulation with inflammatory bowel disease due to ELF4 deficiency

DEX · X-linked immune dysregulation with inflammatory bowel disease due to E74 like ETS transcription factor 4 deficiency

XMEN

CID due to MAGT1 deficiency · Combined immunodeficiency due to MAGT1 deficiency