Clinical manifestations and treatment of <scp>STAT</scp> ‐1 gain‐of‐function: A single‐center experience from India
The peer review history for this article is available at https://www.webofscience.com/api/gateway/wos/peer-review/10.1111/pai.70168. Authors confirm that all relevant data are included in the article, figures, and Supporting Information—S1. Figure S1: Pictorial representation of the incidence of various clinical manifestations of our cohort prior to initiation of targeted therapy. The area of the squares represents the incidence of various manifestations. The blue area, which is the largest area, represents the incidence of fungal infections. Chronic mucocutaneous candidiasis was seen in 11/11; 6/11 had invasive fungal infections; 4/11 had dermatophytosis. The orange area represents lung manifestations; 9/11 had pneumonia; 5/11 had bronchiectasis. The brown area represents viral infections; 3/11 had Cytomegalovirus viremia; 2/11 had Epstein–Barr virus viremia; 2/11 had Herpes zoster; 2/11 had Parvovirus B19 viremia; 2/11 had viral warts; 1/11 had molluscum. The purple area represents autoimmune manifestations; 3/11 had autoimmune hemolytic anemia; 1/11 had Evans syndrome; 1/11 had Crohn’s disease; 1/11 had autoimmune hepatitis with positive anti-smooth muscle antibody and antineutrophil cytoplasmic antibody; 1/11 had autoimmune hypothyroidism positive for anti-thyroglobulin and anti-thyroid peroxidase. The gray area represents ENT manifestations; 2/11 had ear infections; 1/11 had chronic rhinitis; 1/11 had maxillary sinusitis. The pink area represents neurological manifestations; 1/11 had tuberculoma; 1/11 had cryptococcus meningitis. The green area represents inflammatory manifestations; 1/11 had aphthous stomatitis. The dark blue area represents hematological manifestations; 1/11 had pancytopenia with hypocellular marrow. Figure S2: (A) Sites of Chronic Mucocutaneous Candidiasis in our cohort prior to initiation of targeted therapy. The figure represents the sites of chronic mucocutaneous candidiasis found in our cohort, which included oral mucosa in 11/11, esophagus in 6/11, external genitalia in 5/11, nails in 2/11, skin in 1/11, and external auditory canal in 1/11. (B) Sites of isolation and organisms isolated prior to initiation of targeted therapy. The colors correspond to the site of isolation, and the number indicates the number of occasions on which each organism was isolated. Table S1: Basic lymphocyte subset analysis. Table S2: Immunoglobulin profile. Table S3: Analysis of mutations seen in our cohort. Please note: The publisher is not responsible for the content or functionality of any supporting information supplied by the authors. Any queries (other than missing content) should be directed to the corresponding author for the article.
Authors
- Minnie Bodhanwala (ORCID: https://orcid.org/0000-0002-3301-3858)
- Vijaya Gowri (ORCID: https://orcid.org/0000-0003-4811-4595)
- Manisha Rajan Madkaikar (ORCID: https://orcid.org/0000-0001-6380-3116)
- Vaishnavi V. Iyengar (ORCID: https://orcid.org/0000-0002-6455-1077)
- Akshaya Chougule (ORCID: https://orcid.org/0000-0001-5250-4583)
- Mukesh Desai (ORCID: https://orcid.org/0000-0002-9253-7934)
- Prasad Taur (ORCID: https://orcid.org/0000-0002-3594-631X)
Institutions
- ICMR - National Institute of Immunohaemotology (IN)
- Bai Jerbai Wadia Hospital for Children (IN)
Publication Details
- Journal
- Pediatric Allergy and Immunology
- Published
- 2025-08-01
- DOI
- https://doi.org/10.1111/pai.70168
- Citations
- 1
- Primary Topic
- Immunodeficiency and Autoimmune Disorders
- Type
- article
- Field-Weighted Citation Impact
- 0.80
Funders
- Indian Council of Medical Research