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Severe combined immunodeficiency (SCID) encompasses a group of rare primary immunodeficiency disorders defined by a lack of functional peripheral T lymphocytes, resulting in severe susceptibility to infections beginning in early life and failure to thrive. SCID presents in the congenital period and is classified by immunological phenotype into forms with absent T cells and present B cells (T-B+ SCID) and forms lacking both T and B cells (T-B- SCID), with each group further subdivided by the presence or absence of natural killer (NK) cells. At least eleven distinct subtypes are recognized. Prevalence data are not established in this packet.
Data assembled from 5 of 12 sources · Last updated Sep 20, 2026, 11:11 AM UTC
European rare disease database
Genetic and Rare Diseases Info Center
The defining clinical feature of SCID is marked vulnerability to severe infections beginning in early infancy, reflecting the profound deficit in T lymphocyte function. Severe respiratory infections and failure to thrive are characteristic presenting findings. The susceptibility encompasses bacterial, viral, and fungal pathogens. Symptom severity and presentation vary across subtypes.
SCID is caused by genetic alterations affecting immune system development or function, with at least eleven recognized genetic subtypes. The condition encompasses monogenic disorders in which distinct genetic changes disrupt T lymphocyte development. Specific causal genes for individual subtypes are not consolidated in this packet's gene field; inheritance patterns vary by subtype.
Detailed diagnostic information is not captured in this packet. Clinical recognition is guided by the early onset of severe immunodeficiency and immunological phenotyping of lymphocyte populations and immune function.
Specific treatment details are not captured in this packet. Management is shaped by the underlying genetic subtype and severity of immune dysfunction. Gene therapy is among the approaches under active investigation across multiple SCID subtypes.
17 trials found
Outcome data are not detailed in this packet. Prognosis is influenced by the timing of diagnosis, the specific subtype, and access to definitive treatment.
SCID is an active area of clinical research. Several clinical trials are currently under way, with gene therapy representing a prominent approach across multiple subtypes. Drug therapy, biologic therapies, and expanded newborn screening are also under investigation. Individuals interested in current trials can search the ClinicalTrials.gov database.
AI-curated news mentioning severe combined immunodeficiency
Updated Mar 11, 2026
A global survey assesses TREC-based newborn screening practices for severe combined immunodeficiency (SCID), aiming to harmonize reporting results and interpretation. This study highlights the need for standardized approaches in SCID screening.