Immune

Primary Immunodeficiency

Also known as PID, CVID, SCID, XLA

ORPHA:101997 ↗Gene IGHM Gene BTK Gene RAG1 Gene RAG2 Gene ADA Gene IL2RGPrevalence ~1 in 1,200 people (all types)Onset VariableGenetic (various)

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Patient organisations

Immune Deficiency FoundationPatient association
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Registry: IDF Patient Registry · Join ↗. Registries connect patients to researchers and often hear about trials first.

NORD ↗GARD ↗Orphanet ORPHA:101997 ↗

About Primary Immunodeficiency

Primary immunodeficiencies (now called inborn errors of immunity) are a heterogeneous group of over 450 conditions caused by genetic defects in immune system components. CVID (common variable immunodeficiency) is the most prevalent symptomatic PID in adults. SCID (severe combined immunodeficiency) is the most severe and is now detected by newborn screening. IVIG or SCIG infusions replace antibodies in antibody deficiencies.

Common clinical features

Recurrent bacterial infectionsImmunodeficiencyAgammaglobulinemiaChronic diarrheaRecurrent cutaneous abscess formationAbnormality of the tonsilsFailure to thriveAbnormality of the lymphatic system

From Orphanet’s phenotype annotations (CC BY 4.0). Not a complete list.

Treatments being studied

7 approved treatments and 5 in clinical development, from Open Targets (CC BY 4.0). Not medical advice.

Approved: Megestrol Acetate (Megace)Approved: Ganciclovir Sodium (Cytovene)Approved: Fidanacogene Elaparvovec (Beqvez)Approved: Foscarnet Sodium (Foscarnet sodium)Approved: Human Immunoglobulin G (Flebogamma dif (previously flebogammadif))Approved: Cidofovir (Cidofovir)Approved: Leniolisib Phosphate (Joenja)

Phase 3Hyaluronidase (Human Recombinant) (Cumulase)

Phase 2Ruxolitinib (Jakavi)

Phase 2Cyclophosphamide (Cyclophosphamide)

Phase 1/2Cholecalciferol (Accrete d3)

Phase 1/2Gadolinium

Before you apply

Things trial teams commonly ask about for Primary Immunodeficiency. Not eligibility rules; those are set by each study.

Specific PID diagnosis and underlying gene (if identified) are required for most precision trials
IgG trough levels and infection history determine eligibility for replacement therapy comparison trials
SCID newborn screening detection opens a critical window for early gene therapy before infections occur

Related conditions

Information, not medical advice. Trial listings are shown as recorded on ClinicalTrials.gov; whether any study is right for you is a decision for you and your clinicians, and eligibility is decided by each research team. Disease information from Orphanet (CC BY 4.0).