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Severe combined immunodeficiency disorders
Related Subjects: |X linked Agammaglobulinaemia (Bruton) |X-linked lymphoproliferative disease (Children) |Chediak Higashi syndrome |Common variable immunodeficiency |Severe combined immunodeficiency disorders |DiGeorge syndrome (thymic aplasia) |Selective IgA deficiency |Wiskott-Aldrich syndrome (Children) |T lymphocytes
ℹ️ About
- Severe Combined Immunodeficiency (SCID) is a collection of rare genetic disorders that result in profound defects in both T and B cell immunity, and sometimes natural killer (NK) cells .
- SCID includes several types, such as Janus kinase 3 (JAK3) deficiency , Adenosine deaminase (ADA) deficiency , and others, all of which impair the immune system's ability to fight infections.
🩺 Clinical Features
- Recurrent, severe infections are hallmark signs, including frequent sinusitis and pulmonary infections .
- Patients typically fail to thrive and may develop life-threatening conditions such as Pneumocystis jirovecii pneumonia (PCP) and candidal infections (e.g., oral thrush).
- Viral infections such as cytomegalovirus (CMV) , and infections with atypical mycobacteria, can also occur.
- Vaccination with BCG (for tuberculosis) can be fatal in SCID patients.
🔎 Investigations
- Physical findings may include an absent or underdeveloped thymus and tiny or absent lymph nodes and tonsils.
- There is a markedly low T-cell count , which severely compromises cellular immunity.
💊 Management
- The primary treatment for SCID is bone marrow or stem cell transplantation from an HLA-identical donor to restore immune function.
- Gene therapy is emerging as a promising option, particularly for ADA deficiency, to correct the underlying genetic defect.
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