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combined immunodeficiency due to partial RAG1 deficiency

MeSH: C563691ORPHA: 231154

Contents

  1. 1. Overview
  2. 2. Available Treatments
  3. 3. Clinical Presentation
  4. 4. Classification & Codes

Overview

Combined immunodeficiency due to partial RAG1 deficiency is a form of combined T and B cell immunodeficiency (CID; see this term) characterized by severe and persistent cytomegalovirus (CMV) infection and autoimmune cytopenia

Available Treatments (0)

No treatments linked yet

Clinical trials or compassionate use may be available — consult a specialist.

Clinical Presentation

Signs and symptoms associated with combined immunodeficiency due to partial RAG1 deficiency, sourced from HPO and Orphanet clinical annotations.

SplenomegalyAutoimmune hemolytic anemiaAutoimmune neutropeniaImmunodeficiencyAutoimmunitySevere combined immunodeficiencyDecreased total T cell countInterstitial pneumonitisDecreased total B cell countSepsis

Classification & Codes

MeSH Code

C563691

Orphanet Code

ORPHA:231154
combined immunodeficiency due to partial RAG1 deficiency
MeSHC563691
OrphanetORPHA:231154
Treatments0 drug(s)
Symptoms on record10 signs
Statuspublished
Factual Authority
Last Updated3/20/2026
Clinical DataHPO · Orphanet
Drug DataFDA · EMA · CDSCO