Proposal for a prospective observational study of patients with atypical SCID
- Conditions
- D81.9Combined immunodeficiency, unspecified
- Registration Number
- DRKS00000292
- Lead Sponsor
- Centrum für Chronische Immmundefizienz (CCI)
- Brief Summary
Not available
- Detailed Description
Not available
Recruitment & Eligibility
- Status
- Complete
- Sex
- All
- Target Recruitment
- 73
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.
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)
Study & Design
- Study Type
- observational
- Study Design
- Not specified
- Primary Outcome Measures
Name Time Method prevalence of each clinical and immunological feature in the full cohort of patients with atypical SCID
- Secondary Outcome Measures
Name Time Method 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
Related Research Topics
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