Combined immunodeficiency with lymphoproliferation.
- Specialty
- Immunology
- Subspecialty
- Immunology / Immune dysregulation
- Sex & age distribution
- Male: affected; Female: affected; Children: yes
- Gene(s) involved
- PIK3CD, PIK3R1
- Alternative names & eponyms
- Activated PI3K delta syndrome
Etiology & mechanism
Gain-of-function PIK3CD or loss of PIK3R1.
Gene(s) involved (2)
Symptoms & signs (3)
In plain terms, someone with APDS syndrome may experience the following — click any to explore related syndromes:
Same gene(s)
Other syndromes that involve one of this syndrome's genes.
Overlapping symptoms
Other syndromes that share symptoms with this one.
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Shares symptoms with
1 shared
Acquired immunodeficiency syndrome
lymphadenopathy
1 shared
Autoimmune lymphoproliferative syndrome
lymphadenopathy
1 shared
Castleman syndrome
lymphadenopathy
1 shared
DRESS syndrome
lymphadenopathy
1 shared
Evans syndrome
lymphadenopathy
1 shared
Gianotti–Crosti syndrome
lymphadenopathy
1 shared
Omenn syndrome
lymphadenopathy
1 shared
Schnitzler syndrome
lymphadenopathy
1 shared
Sézary syndrome
lymphadenopathy
Shares genes with
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