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Disease

Immunologic Deficiency Syndromes

Late-stage therapeutic developmentEmerging researchRising momentum
MeSHImmunologic Deficiency Syndromes
3
Publications
8
Clinical trials
12
Associated genes
7
Related proteins
2025
Latest publication
Current focus
Therapeutic developmentToll-like 2 biologyToll-like 4 biologyInflammation & immunity
Latest activity
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Recent clinical, regulatory, research and industry developments relating to this disease.

What's happening now

An analyst briefing on current research, clinical, regulatory and industry activity surrounding this disease.

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Clinical trials

8 sponsors · 0 new · 0 completed in the last 12 months (net +0)

The current development programme across all trial phases.

Clinical programme
8
All trials
0
Active
4
Late-stage
6
Completed
Late-stage studies

An Open-Label, Single-Arm, Historically Controlled, Prospective, Multicenter Phase III Study to Evaluate the Safety, Efficacy and Pharmacokinetics of Immune Globulin Intravenous (Human) GC5107 in Subjects With Primary Humoral Immunodeficiency

Phase 3 · Completed · Green Cross Corporation

A Clinical Study of Immune Globulin Intravenous (Human) Omr-IgG-am IGIV in Subjects With Primary Immune Deficiency Diseases

Phase 3 · Completed · FFF Enterprises

Clinical Study to Evaluate the Efficacy, Safety and Kinetics of Octagam 10% for Replacement Therapy in Primary Immunodeficiency Diseases

Phase 3 · Terminated · Octapharma

Voriconazole vs. Amphotericin B in the Treatment of Invasive Aspergillosis

Phase 3 · Completed · National Institute of Allergy and Infectious Diseases (NIAID)
Recently completed

An Open-Label, Single-Arm, Historically Controlled, Prospective, Multicenter Phase III Study to Evaluate the Safety, Efficacy and Pharmacokinetics of Immune Globulin Intravenous (Human) GC5107 in Subjects With Primary Humoral Immunodeficiency

Phase 3 · Completed · Green Cross Corporation

Allogeneic Hematopoietic Stem Cell Transplant for Patients With Immunologic or Histiocytic Disorders Using a Non-Myeloablative Preparative Regimen to Achieve Stable Mixed Chimerism

Phase 2 · Completed · Masonic Cancer Center, University of Minnesota

ADA Gene Transfer Into Hematopoietic Stem/Progenitor Cells for the Treatment of ADA-SCID

Phase 2 · Completed · Fondazione Telethon

A Clinical Study of Immune Globulin Intravenous (Human) Omr-IgG-am IGIV in Subjects With Primary Immune Deficiency Diseases

Phase 3 · Completed · FFF Enterprises

A Pilot Study of the Combination of Retinoic Acid and Interferon-Alpha2a for the Treatment of Lymphoproliferative Disorders in Children With Immunodeficiency Syndromes

Phase 2 · Completed · National Cancer Institute (NCI)

Voriconazole vs. Amphotericin B in the Treatment of Invasive Aspergillosis

Phase 3 · Completed · National Institute of Allergy and Infectious Diseases (NIAID)

Research activity

3 papers

Key research shaping understanding of this disease, combining the latest publications with the most influential evidence.

Publications over time
20082025
Most influential

B lymphocytes: how they develop and function.

Blood · 2008 · 863 cites

Human Inborn Errors of Immunity: 2022 Update on the Classification from the International Union of Immunological Societies Expert Committee.

Journal of clinical immunology · 2022 · 824 cites

Update on inborn errors of immunity.

The Journal of allergy and clinical immunology · 2025 · 16 cites
Recent publications

Update on inborn errors of immunity.

The Journal of allergy and clinical immunology · 2025 · 16 cites

Human Inborn Errors of Immunity: 2022 Update on the Classification from the International Union of Immunological Societies Expert Committee.

Journal of clinical immunology · 2022 · 824 cites

B lymphocytes: how they develop and function.

Blood · 2008 · 863 cites
Major themes4
  • Immunologic Deficiency Syndromes2
  • COVID-191
  • Immune System Diseases1
  • SARS-CoV-21
Leading journals3
  • Blood1
  • Journal of clinical immunology1
  • The Journal of allergy and clinical immunology1
Leading researchers8
  • Al-Herz W1
  • Bousfiha A1
  • Cunningham-Rundles C1
  • Dalm VASH1
  • Edwards ESJ1
  • Franco JL1
  • Holland SM1
  • IJspeert H1
Affiliations (unnormalised)6
  • Allen Institute for Immunology1
  • Children's Hospital of Philadelphia1
  • d'Inflammation et d'Allergy LICIA Clinical Immunology Unit1
  • Department of Clinical Genetics1
  • Department of Clinical Immunology1
  • Department of Laboratory Medicine/Pathology1

Associated genes

12 matches

Genes associated with this disease in the canonical knowledge graph (Open Targets evidence). Number shows the association score.

MYD880.50RAG20.50RIPK10.49IRAK40.46FNIP10.42NFKB20.37TLR20.37RELA0.37TLR40.37TLR30.37UNC93B10.37CD360.37

Disease biology

7 matches

Proteins whose encoding gene is associated with this disease, reached through the canonical gene→disease graph. Number shows the gene's association score.

Toll-like receptor 2via TLR20.37Toll-like receptor 4via TLR40.37Toll-like receptor 3via TLR30.37Protein S100-A8via S100A80.37Protein S100-A9via S100A90.37High mobility group protein B1via HMGB10.37Toll-like receptor 6via TLR60.37

Reference

Authoritative identity, definition & identifiers.

Defined in MeSH

Syndromes in which there is a deficiency or defect in the mechanisms of immunity, either cellular or humoral.

Identifiers
MeSHImmunologic Deficiency Syndromes
References & data sources
  • Disease identity & definition — NLM Medical Subject Headings (MeSH), public domain
  • Clinical trials — ClinicalTrials.gov (U.S. National Library of Medicine)
  • Research activity — Europe PMC (EMBL-EBI) + OpenAlex-derived paper links
  • Related entities are derived from literature co-mention (studied together) — associative, not causal.