Proposal for a prospective observational study of patients with atypical SCID

Proposal for a prospective observational study of patients with atypical SCID - Atypical SCID

Status

Active, not recruiting

Phases

Unknown

Study type

Observational

Source

DRKS

Registry ID

DRKS00000292

Enrollment

Registered

2010-01-25

Start date

2010-07-31

Completion date

Unknown

Last updated

2025-04-07

For informational purposes only — not medical advice. Sourced from public registries and may not reflect the latest updates. Terms

Conditions

D81.9

Interventions

Group 1: cohort study with data collection and maybe collection of biomaterials

Eligibility

Sex/Gender

All

Inclusion criteria

Inclusion criteria: 1. All Patients with biallelic mutations in a gene where complete loss of function always leads to a SCID phenotype (that is RAG1/2, Artemis, IL-2R-alpha, IL7-R-gamma, DNA Ligase IV, JAK3, ADA) are eligible for this study. 2. T-cells (CD3+) > 100/µl. This threshhold is arbitrarily chosen as indicative of residual function of the affected gene product.

Exclusion criteria

Exclusion criteria: 1. Patients with mutations in the following "SCID" genes due to the presence of T cells in a significant proportion of patients with null mutations: Fox N1 (WHN), CD45, CD3 (delta, epsilon, gamma, theta), Cernunnous, Coronin A1, Orai-1, ZAP-70, MHC II, RMRP, PNP and del22q.11. Patients with mutations in AK2 are also excluded. 2. Maternal T-cells (this must be investigated for a patient to be included) 3. Clinical presentation of "classical" SCID: a.) Opportunistic infections (e.g. PCP-related pneumonia, invasive fungal infections, mycobacterial infections) in the first year of life b.) Severe infections (major-infections) combined with failure to thrive, respectively persistent (> 4 weeks)/ invasive Candida infection in the first year of life 4. Clinical presentation of Omenn syndrome: (e.g. erythematous rash, lymphoproliferation, severe/opportunistic infections, failure to thrive in the first year of life)

Design outcomes

Primary

Measure	Time frame
prevalence of each clinical and immunological feature in the full cohort of patients with atypical SCID	—

Secondary

Measure	Time frame
percentage of patients with normal numbers of T-, B- and NK- or naïve T cells, nomal levels of immunoglobulins or specific antibodies in order to further emphasize the observation that these results do not exclude the diagnosis of SCID \|\| Time to BMT, survival time	—

Countries

Germany, United Kingdom

Contacts

Public ContactCarsten Speckmann

Universitätsklinikum FreiburgCentrum für Chronische Immundefizienz (CCI)

carsten.speckmann@uniklinik-freiburg.de+49 (0)761 270 77491

Outcome results

None listed

Source: DRKS (via WHO ICTRP) · Data processed: Feb 4, 2026