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Article

Clinical, Genetic, and Immunological Spectrum of CHAI and LATAIE Patients from a Tertiary Referral Centre in India

by
Priyanka Setia
1,
Umair Ahmed Bargir
1,
Mukesh Desai
2,
Aparna Dalvi
1,
Shweta Shinde
1,
Neha Jodhawat
1,
Pallavi Gaikwad
1,
Sagar Bhattad
3,
Chandrakala Shainmukhaih
4,
Maya Gupta
1,
Amruta Dhawale
1,
Priyanka Kambli
1,
Reetika Malik Yadav
1,
Manas Kalra
5,
Harikrishnan Gangadharan
6,
Meena Sivasankaran
7,
Vibha Bafna
8,
Prawin Kumar
9,
Priya Sarvanan
10,
Mamta Manglani
11,
Ratna Sharma
11,
Parag Tamhankar
12 and
Manisha Madkaikar
1,*add Show full author list remove Hide full author list
1
Indian Council of Medical Research -National Institute of Immunohematology (ICMR -NIIH), 13th Floor, New Multistorey Building, KEM Hospital, Parel, Mumbai 400012, India
2
Department of Immunology, Bai Jerbai Wadia Children’s Hospital, Parel, Mumbai 400012, India
3
Department of Paediatrics, Aster CMI Hospital, Bangalore 560092, India
4
Department of Haematology, 10th Floor, New Multistorey Building, KEM Hospital, Parel, Mumbai 400012, India
5
Department of Pediatric Haematology and Oncology, Sir Ganga Ram Hospital, New Delhi 110060, India
6
Department of Rheumatology, Government Medical College, Kottayam 686008, India
7
Department of Pediatric Hemato-Oncology and BMT, Kanchi Kamakoti CHILDS Trust Hospital, Chennai 600034, India
8
Department of Pediatric Haematology, Bhartiya Vidyapeeth, Pune 411045, India
9
Department of Paediatrics, AIIMS Jodhpur, Jodhpur 342005, India
10
Department of Paediatrics, Government Medical College, Kozhikode 673008, India
11
Brihanmumbai Municipal Corporation (BMC) CTC, PHO & BMT Centre, Borivali, Mumbai 400066, India
12
Centre for Medical Genetics, Mulund, Mumbai 400080, India
 
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*
Author to whom correspondence should be addressed.
Int. J. Mol. Sci. 2026, 27(1), 14; https://doi.org/10.3390/ijms27010014
Submission received: 30 June 2025 / Revised: 19 August 2025 / Accepted: 12 September 2025 / Published: 19 December 2025
(This article belongs to the Special Issue Molecular Advances in Inborn Errors of Immunity)
Versions Notes

Abstract

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.
Keywords: inborn errors of immunity; PIRD; LRBA; CTLA4; autoimmunity; immunodeficiency; flow cytometry inborn errors of immunity; PIRD; LRBA; CTLA4; autoimmunity; immunodeficiency; flow cytometry

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MDPI and ACS Style

Setia, P.; Bargir, U.A.; Desai, M.; Dalvi, A.; Shinde, S.; Jodhawat, N.; Gaikwad, P.; Bhattad, S.; Shainmukhaih, C.; Gupta, M.; et al. Clinical, Genetic, and Immunological Spectrum of CHAI and LATAIE Patients from a Tertiary Referral Centre in India. Int. J. Mol. Sci. 2026, 27, 14. https://doi.org/10.3390/ijms27010014

AMA Style

Setia P, Bargir UA, Desai M, Dalvi A, Shinde S, Jodhawat N, Gaikwad P, Bhattad S, Shainmukhaih C, Gupta M, et al. Clinical, Genetic, and Immunological Spectrum of CHAI and LATAIE Patients from a Tertiary Referral Centre in India. International Journal of Molecular Sciences. 2026; 27(1):14. https://doi.org/10.3390/ijms27010014

Chicago/Turabian Style

Setia, Priyanka, Umair Ahmed Bargir, Mukesh Desai, Aparna Dalvi, Shweta Shinde, Neha Jodhawat, Pallavi Gaikwad, Sagar Bhattad, Chandrakala Shainmukhaih, Maya Gupta, and et al. 2026. "Clinical, Genetic, and Immunological Spectrum of CHAI and LATAIE Patients from a Tertiary Referral Centre in India" International Journal of Molecular Sciences 27, no. 1: 14. https://doi.org/10.3390/ijms27010014

APA Style

Setia, P., Bargir, U. A., Desai, M., Dalvi, A., Shinde, S., Jodhawat, N., Gaikwad, P., Bhattad, S., Shainmukhaih, C., Gupta, M., Dhawale, A., Kambli, P., Yadav, R. M., Kalra, M., Gangadharan, H., Sivasankaran, M., Bafna, V., Kumar, P., Sarvanan, P., ... Madkaikar, M. (2026). Clinical, Genetic, and Immunological Spectrum of CHAI and LATAIE Patients from a Tertiary Referral Centre in India. International Journal of Molecular Sciences, 27(1), 14. https://doi.org/10.3390/ijms27010014

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