Clinical, Genetic, and Immunological Spectrum of CHAI and LATAIE Patients from a Tertiary Referral Centre in India
Primary immune regulatory disorders (PIRDs) are a group of conditions characterised by a loss of immune tolerance. Two such disorders, CHAI and LATAIE, share common molecular mechanisms, leading to significant clinical overlap. Here, we report demographic, clinical, immunological, and molecular findings in 29 patients referred from different parts of India with a diagnosis of CHAI or LATAIE. LATAIE patients demonstrated a higher prevalence of consanguinity, while CHAI patients more often had a positive family history. Both disorders presented with overlapping clinical features, predominately autoimmune cytopenias, benign lymphoproliferation, and inflammatory bowel disease (IBD). However, the incidence of recurrent infections, otitis media, bronchiectasis, and hypogammaglobulinemia was higher among LATAIE patients as compared to CHAI. Flow cytometry analysis revealed significant differences in T cell subsets, particularly in percentages of CD4+ naïve cells and T regulatory cells (Treg), between the two disorders. B cell abnormalities were also observed. Molecular diagnosis was achieved using targeted or clinical exome sequencing, and specific protein expression was employed to validate the novel variants.
Authors
- Priyanka Kambli (ORCID: https://orcid.org/0000-0001-5713-9482)
- Manas Kalra (ORCID: https://orcid.org/0000-0003-2570-7750)
- Parag Mohan Tamhankar (ORCID: https://orcid.org/0000-0003-3584-2382)
- Harikrishnan Gangadharan (ORCID: https://orcid.org/0000-0001-5313-7316)
- Aparna Dhondi Dalvi (ORCID: https://orcid.org/0009-0007-6972-6474)
- Mamta Manglani (ORCID: https://orcid.org/0000-0001-8643-4528)
- Priyanka Setia (ORCID: https://orcid.org/0000-0003-0985-0303)
- Vineet Bafna (ORCID: https://orcid.org/0000-0002-5810-6241)
- Manisha Rajan Madkaikar (ORCID: https://orcid.org/0000-0001-6380-3116)
- Shweta Shinde (ORCID: https://orcid.org/0009-0003-7012-7605)
- Pallavi Gaikwad (ORCID: https://orcid.org/0000-0003-3231-0727)
- Prawin Kumar (ORCID: https://orcid.org/0000-0002-2365-8097)
- Umair Ahmed Bargir (ORCID: https://orcid.org/0000-0001-6785-8042)
- Reetika Malik Yadav (ORCID: https://orcid.org/0000-0002-5030-0437)
- Meena Sivasankaran (ORCID: https://orcid.org/0000-0001-5759-125X)
- Maya Gupta
- Amruta Dhawale (ORCID: https://orcid.org/0000-0002-8755-9426)
- Neha Jodhawat (ORCID: https://orcid.org/0000-0002-7752-3956)
- Sagar Bhattad (ORCID: https://orcid.org/0000-0002-5048-9727)
- Ratna Sharma
- Mukesh Desai
- Priya Sarvanan
- Chandrakala Shainmukhaih
Institutions
- ASTER (CA)
- Government Medical College (IN)
- Government Medical College (IN)
- All India Institute of Medical Sciences Jodhpur (IN)
- Government Medical College (IN)
- Brihanmumbai Municipal Corporation (IN)
- ICMR - National Institute of Immunohaemotology (IN)
- Bai Jerbai Wadia Hospital for Children (IN)
- Sir Ganga Ram Hospital (IN)
- Research Centre for Medical Genetics (RU)
- Government College Kodanchery (IN)
- Kanchi Kamakoti CHILDS Trust Hospital (IN)
- Bharati Vidyapeeth (Deemed to be University) (IN)
Publication Details
- Journal
- International Journal of Molecular Sciences
- Published
- 2025-12-19
- DOI
- https://doi.org/10.3390/ijms27010014
- Primary Topic
- Immunodeficiency and Autoimmune Disorders
- Type
- article
- Field-Weighted Citation Impact
- 0.00