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ORPHA:33355

Reticular dysgenesis

medium confidenceDisorder

Also known as: AK2 deficiency · De Vaal disease · SCID with sensorineural deafness · SCID with sensorineural hearing loss · Severe combined immunodeficiency with sensorineural deafness · Severe combined immunodeficiency with sensorineural hearing loss

Publications

360

67.2th percentile

Trials

1

Interventional, condition-specific

Researchers

1,366

Distinct authors in sample

Gene link

AK2

Definitive

Readiness

5/6

Stages with a signal

Clinical definition (Orphanet)

Reticular dysgenesis is the most severe form of severe combined immunodeficiency (SCID) and is characterized by bilateral sensorineural deafness and a lack of innate and adaptive immune functions leading to fatal septicemia within days after birth if not treated.

How rare: <1 / 1 000 000 — fewer than one in a million. In a city the size of Kolkata, that might mean on the order of fifteen people.

Orphanet entry

Cross-references

Joined from Mondo / Orphanet. MeSH labels may enter searches; UMLS / OMIM / NCIT are stored for reference.

Additional Mondo synonyms (6)

SCID with leukopenia · congenital aleukocytosis · generalised haematopoietic hypoplasia · generalized hematopoietic hypoplasia · reticular dysgenesis · severe combined immunodeficiency with leukopenia

Research stages

Trial readiness signals

Where this condition sits on an open-data research pipeline — not how close a treatment is, and not medical advice. Empty stages often mean “not in these databases under this Mondo ID,” not “impossible.”

5/6 stages with a signal

An interventional trial matched this condition name on ClinicalTrials.gov — see trials below.

  1. Gene identifiedPresent

    Definitive — AK2

  2. LiteraturePresent

    360 matched papers (189 in last 10 years) Source

  3. Phenotype characterisedPresent

    95 HPO annotations (e.g. Lymphoproliferative disorder; Erythroid hypoplasia; Decreased circulating IgG concentration) Source

  4. Animal modelPresent

    5 genotype models (Danio rerio) Source

  5. Orphan designationNot found

    No FDA or EMA orphan-drug designation matched this disease via UMLS or preferred name Source

  6. Interventional trialPresent

    1 matched on ClinicalTrials.gov

Biology

Genes and phenotypes

Gene–disease validity from GenCC, plus phenotypes and animal models joined from Monarch Initiative via Mondo ID — not a clinical diagnosis aid.

Do we know what causes it?

Yes — we know a specific gene responsible (AK2).

GenCC classification: Definitive.

Phenotypes (Monarch / HPO)

95

Associated phenotypes · MONDO:0009973

  • Lymphoproliferative disorder
  • Erythroid hypoplasia
  • Decreased circulating IgG concentration
  • Absent leukocyte alkaline phosphatase
  • Abnormally low T cell receptor excision circle level

Showing 5 of 95 — open Monarch for the full list.

Animal models (Monarch / Alliance)

5

Model associations linked to this Mondo ID

Monarch fetch 2026-07-29

Therapies

Designations, candidates, and chemicals

FDA OOPD and EMA orphan designations, Open Targets clinical candidates, and CTD chemical associations via MyDisease.info. These never change the interventional-trial headline.

Orphan designation (FDA · EMA)

No designation matched this disease via UMLS or preferred name on the FDA OOPD mirror or EMA orphan register. Absence here is not proof that none exists under another wording.

Open Targets candidates

No drugs or clinical candidates returned for this Mondo ID on Open Targets.

CTD chemicals (MyDisease.info)

1 associated chemical · 7 pathways. Therapeutic evidence is listed first when present — not a treatment recommendation.

  • T-2 Toxin · marker/mechanism

Pathways: Purine metabolism; Thiamine metabolism; Metabolic pathways; Adenine ribonucleotide biosynthesis, IMP => ADP,ATP; Metabolism; Metabolism of nucleotides; Synthesis and interconversion of nucleotide di- and triphosphates

MyDisease.info · MONDO:0009973

Literature

Is anyone studying this?

360

360 papers have ever been published on this condition (under this name). For scale, breast cancer has over 700,000. Median papers in the last 10 years for a rare disease in this dataset (publications denominator n=3967) is 59.

360 papers since the earliest indexed year in this search — median last-10-year count for a rare disease in this dataset is 59 (publications denominator n=3967).

189 in the last 10 years · medium confidence · 67.2th percentile (publications denominator)

Phrase hits: 359 · MeSH hits: 0

Open Europe PMC search

Who's working on it?

1,366

Distinct author names in 200 sampled papers — named people below.

Who's working on it?

People publishing on this condition (sampled Europe PMC records). Affiliation is the most recent found in that sample.

  1. 01
    Notarangelo LD19 papers · 2024

    Laboratory of Host Defenses, NIAID, National Institutes of Health, Bethesda, Maryland.

    Papers in Europe PMC
  2. 02
    Cowan MJ13 papers · 2023

    Department of Pediatrics, Allergy, Immunology, and Blood and Marrow Transplant Division, University of California San Francisco, San Francisco, California.

    Papers in Europe PMC
  3. 03
    Pai SY10 papers · 2023

    Division of Pediatric Hematology-Oncology, Department of Pediatrics, Boston Children's Hospital, Boston, MA.

    Papers in Europe PMC
  4. 04
    Puck JM10 papers · 2023

    Division of Pediatric Allergy, Immunology and Bone Marrow Transplant, University of California, San Francisco, San Francisco, CA.

    Papers in Europe PMC
  5. 05
    Buckley RH9 papers · 2023

    Department of Pediatrics, Duke University, Durham, NC.

    Papers in Europe PMC
  6. 06
    Gennery AR9 papers · 2026

    Department of Paediatric Immunology, Newcastle upon Tyne, United Kingdom Institute of Cellular Medicine, Newcastle upon Tyne University, United Kingdom.

    Papers in Europe PMC
  7. 07
    Kohn DB9 papers · 2023

    Department of Pediatrics, David Geffen School of Medicine, University of California, Los Angeles, Los Angeles, CA.

    Papers in Europe PMC
  8. 08
    Al-Herz W8 papers · 2024

    Department of Pediatrics, Faculty of Medicine, Kuwait University, Kuwait City, Kuwait.

    Papers in Europe PMC
  9. 09
    Dvorak CC8 papers · 2023

    Department of Pediatrics, Division of Pediatric Allergy, Immunology, & Bone Marrow Transplantation, University of California, San Francisco, Calif.

    Papers in Europe PMC
  10. 10
    Fischer A8 papers · 2024

    Dept. of Pediatric Immunology,Hematology and Rheumatology,Necker-Enfants Malades University Hospital.

    Papers in Europe PMC

Clinical research

Is a treatment being tested?

1

interventional trials for this specific condition

1 interventional trial matched this specific condition name; none in our sample are currently recruiting.

Data as of 11 September 2026 · last trial check 28 July 2026

1 interventional trial — more than 77.2% of diseases in the trials denominator have none at all (5501 of 7126; this disease is at the 80.1th percentile).

medium confidence · 80.1th percentile (trials denominator)

Recruiting interventional trials

From the matched ClinicalTrials.gov set

1 interventional trials matched after quoted-phrase search and title/condition post-filter.

No currently recruiting studies in the matched set. Open the same search on ClinicalTrials.gov.

Observational and natural-history studies

2 observational studies match this condition. These do not test a treatment and are not counted in the interventional-trial headline, but they are genuine research: natural-history work often defines the endpoints needed for a future rare-disease trial, and families may be able to enroll.

Recruiting or not-yet-recruiting

Open the complete matched search on ClinicalTrials.gov

Other registries (secondary)

Broader net from EU CTIS, ISRCTN, and ICTRP when available — deduped against ClinicalTrials.gov IDs already counted above. Dual-model LLM relevance gates what we keep. These rows are not added to the interventional headline.

raw 0 · after dedupe 0 · already on CT.gov 0 · kept 0 · parent 0 · uncertain 0 · dropped 0 · fetched 2026-07-29

Source notes: ictrp: Error: ICTRP public search unavailable (WHO portal is SPA-only; SOAP needs partnership). Tried: https://apps.who.int/tri

No secondary-registry studies passed dual-model relevance for this condition name (after dedupe).

Where to find support

Condition-specific patient organisations, when Orphanet lists them, are on the disease’s Orphanet page. We also link umbrella groups that support undiagnosed and ultra-rare families.

Orphanet entry for Reticular dysgenesis — check Associations / patient organisations on that page.

India — NPRD

Last verified 2026-07-26

Likely covered — the policy lists Severe combined immunodeficiency (SCID) as a category (Group 1), and this condition is a form of it. Confirm eligibility with a Centre of Excellence.

Group 1 — one-time curative treatment

Up to ₹50 lakh per patient

Financial support for treatment at notified Centres of Excellence (figures evolved from the original ₹20 lakh Group-1 ceiling).

Policy figures change. Verify current MoHFW / CoE guidance before relying on any amount. Verify

Centres of Excellence (15)
  • All India Institute of Medical Sciences (AIIMS) — New Delhi, Delhi
  • Maulana Azad Medical College — New Delhi, Delhi
  • Sanjay Gandhi Post Graduate Institute of Medical Sciences — Lucknow, Uttar Pradesh
  • Post Graduate Institute of Medical Education and Research (PGIMER) — Chandigarh, Chandigarh
  • Centre for DNA Fingerprinting & Diagnostics with Nizam’s Institute of Medical Sciences — Hyderabad, Telangana
  • King Edward Memorial Hospital — Mumbai, Maharashtra
  • Institute of Post-Graduate Medical Education and Research (IPGMER) — Kolkata, West Bengal
  • Centre for Human Genetics with Indira Gandhi Hospital — Bengaluru, Karnataka
  • Institute of Child Health and Hospital for Children (ICH & HC) — Chennai, Tamil Nadu
  • All India Institute of Medical Sciences (AIIMS) — Jodhpur, Rajasthan
  • Sree Avittam Thirunal Hospital (SAT), Government Medical College — Thiruvananthapuram, Kerala
  • All India Institute of Medical Sciences (AIIMS) — Bhopal, Madhya Pradesh
  • Regional Institute of Medical Sciences (RIMS) — Imphal, Manipur
  • All India Institute of Medical Sciences (AIIMS) — Patna, Bihar
  • Assam Medical College & Hospital — Dibrugarh, Assam

Voluntary contributions / crowdfunding (separate from CoE funding): https://rarediseases.mohfw.gov.in/

Hand-curated for this project. ORPHAcode mappings are best-effort and may be incomplete or imprecise for umbrella categories. Parent (Mondo) matches mean the policy lists a broader category — confirm eligibility with a Centre of Excellence. Financial entitlements summarised from public policy statements and may change. This is not official government guidance.

How we counted this

Europe PMC query (preferred label + any corrected label + Orphanet and Mondo exact synonyms, stoplisted; unioned with resolved MeSH labels when available). UMLS / OMIM / NCIT cross-references are stored on the overview but are not added to the query string.

("Reticular dysgenesis" OR "AK2 deficiency" OR "De Vaal disease" OR "SCID with sensorineural deafness" OR "SCID with sensorineural hearing loss" OR "Severe combined immunodeficiency with sensorineural deafness" OR "Severe combined immunodeficiency with sensorineural hearing loss" OR "SCID with leukopenia" OR "congenital aleukocytosis" OR "generalised haematopoietic hypoplasia" OR "generalized hematopoietic hypoplasia" OR "severe combined immunodeficiency with leukopenia") OR ("AK2 syndrome" OR "AK2-related")

Run this search on Europe PMC

ClinicalTrials.gov query (quoted phrases + MeSH via query.cond, plus recall-expansion terms when used):

"Reticular dysgenesis" OR "AK2 deficiency" OR "De Vaal disease" OR "SCID with sensorineural deafness" OR "SCID with sensorineural hearing loss" OR "Severe combined immunodeficiency with sensorineural deafness" OR "Severe combined immunodeficiency with sensorineural hearing loss" OR "SCID with leukopenia" OR "congenital aleukocytosis" OR "generalised haematopoietic hypoplasia" OR "generalized hematopoietic hypoplasia" OR "severe combined immunodeficiency with leukopenia"

Interventional trials matched via: phrase (mesh = registered under a MeSH descriptor no name phrase would catch; recall-expansion = gene / selected parent terms used only for trials).

Study-type breakdown: 1 interventional · 2 observational · 0 expanded access. Only interventional studies enter the trial headline.

Query health: ok — strategies attempted: phrase; with hits: phrase

Run this search on ClinicalTrials.gov

Confidence reasoning

  • Preferred label is multi-word and distinctive
  • No synonyms dropped by stoplist
  • No label/synonym collisions with other diseases in this corpus
  • Publication count (360) is high for prevalence class "<1 / 1 000 000" — confidence capped at medium

Ingested 2026-07-26T23:34:38.666Z