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Comprehensive comparison between 222 CTLA-4 haploinsufficiency and 212 LRBA deficiency patients: a systematic review
M Jamee1,2, S Hosseinzadeh1, N Sharifinejad1
1Student Research Committee, Alborz University of Medical Sciences, Karaj, Iran.
Clinical and Experimental Immunology
|March 31, 2021
Summary
Cytotoxic T lymphocyte antigen 4 (CTLA-4) haploinsufficiency (CHAI) and lipopolysaccharide-responsive beige-like anchor (LRBA) deficiency (LATAIE) are inborn errors of immunity with overlapping features. This review differentiates CHAI and LATAIE based on demographics, clinical, and immunological characteristics.
Area of Science:
- Immunology
- Genetics
- Infectious Diseases
Background:
- Cytotoxic T lymphocyte antigen 4 (CTLA-4) haploinsufficiency (CHAI) and lipopolysaccharide-responsive beige-like anchor (LRBA) deficiency (LATAIE) are newly identified inborn errors of immunity.
- These conditions share molecular pathomechanisms and clinical manifestations, necessitating differential diagnosis.
Purpose of the Study:
- To provide differential comparisons of demographic, clinical, immunological, and molecular characteristics between CHAI and LATAIE.
- To systematically evaluate and synthesize existing literature on these two conditions.
Main Methods:
- A systematic literature search was conducted in PubMed, Web of Science, and Scopus databases.
- Included studies were systematically evaluated, analyzing data from 434 patients (222 CHAI, 212 LATAIE) across 101 eligible studies.
Main Results:
- CHAI patients were predominantly reported from North America/Europe, while LATAIE patients were mainly from Asia. Familial history was more common in CHAI, and consanguinity in LATAIE.
- CHAI showed higher rates of granulomas, malignancies, atopy, cutaneous, and neurological disorders. LATAIE patients more frequently presented with life-threatening infections, pneumonia, ENT disorders, organomegaly, autoimmune enteropathy, and growth failure.
- Both conditions often exhibited normal lymphocyte subsets and immunoglobulins, with notable exceptions in specific B cell and NK cell populations, and varying IgG/IgA levels.
Conclusions:
- CHAI and LATAIE, despite shared mechanisms, exhibit distinct demographic and clinical profiles, aiding in differential diagnosis.
- Understanding these differences is crucial for targeted management and treatment strategies, including the use of rituximab for CHAI and abatacept for LATAIE.
- Further research into optimal pre- and post-transplantation regimens is essential to improve outcomes for transplanted patients with CHAI and LATAIE.
