Immunology and Genetics Journal

A National Consensus on Hematopoietic Stem Cell Transplantation for Patients with Inborn Errors of Immunity

2026-02-14T16:38:00+0330

At present, a national consensus on hematopoietic stem cell transplantation (HSCT) for patients with inborn errors of immunity (IEI) is lacking. This consensus is written based on a combination of scientific literature and comments from the expert panel of Iranian immunologists. We formed a panel of clinical immunologists at a meeting titled “Second Meeting on the Diagnosis of IEI by IEI Experts” to receive their comments in this field. All authors reviewed and agreed on the current consensus. This consensus guideline provides recommendations on donor selection, stem cell source, conditioning regimen, mobilization and collection, stem cell infusion, engraftment and chimerism assessment, and post-transplant care for patients with IEI. The current recommendations reflect Iranian practice and do not necessarily represent global preferences.

A Case Series of Omenn Syndrome in Iranian Children

2025-12-22T23:30:55+0330

Background: Severe combined immunodeficiencies (SCIDs) are a group of disorders with variable clinical phenotypes, usually presenting with life-threatening infections. This type of immunodeficiency results from defective differentiation of hematopoietic stem cells into mature T lymphocytes leading to various identified affected genotypes of severe immunodeficiency. Omenn syndrome is an autosomal recessive immunodeficiency disorder characterized by generalized erythroderma, lymphoadenopathy, and eosinophilia. The aim of this study was to provide specific information about the clinical, immunological, and genetic characteristics in this context.

Methods: A retrospective case review was conducted at Shahid Beheshti, Children Medical Center and Azad University Hospitals of Tehran so that the patients with a previously diagnosis of Omenn syndrome, admitted between years 2016 and 2023, were selected and included in this study.

Results: Eleven patients with known Omenn syndrome were included in our study. The mean age of onset in the patients was 45 days old. Six (54.5%) were female and 5 (45.5%) were male. There was a history of parental consanguinity in 10 out of 11 studied children (91%). BCG dissemination, erythroderma, hepatosplenomegaly, lymphadenopathies, failure to thrive, recurrent infections, and gastrointestinal manifestations were more prominent. Other presentations in order of frequency were failure to thrive (90.9%), recurrent infections (63.6%), erythroderma (63%), hepatosplenomegaly (45.5%), lymphadenopathy (36.4%), and BCG dissemination (27.3%).

Conclusion: As Omenn syndrome is a type of SCID and a pediatric immunologic emergency, awareness about the various clinical manifestations of the disease among people of different ethnicities is highly essential for timely and accurate diagnosis, treatment, and family counseling.

Incontinentia Pigmenti: An Iranian Case Report

2025-12-22T23:32:30+0330

Incontinentia Pigmenti (IP) is a rare X-linked dominant genetic disorder primarily affecting the skin, with cutaneous manifestations present in all cases. Other ectodermal tissues—including the central nervous system, eyes, hair, nails, and teeth—may also be involved to varying degrees. In this report, we present the case of a newborn female who exhibited widespread vesiculopustular skin lesions at birth, predominantly affecting the upper and lower extremities. At 9 hours old, the newborn with skin lesions suspicious for generalized impetigo, transferred to the NICU at Children’s Medical Center in Tehran, Iran, for further evaluation and management. No abnormalities were observed in the hair, nails, oral mucosa, eyes, or central nervous system during the initial assessment and the final diagnosis was IP.

Gastric Trichobezoar: An Iranian Case Report

2025-12-22T23:02:39+0330

The most prevalent reason of trichobizoar diseases are hair pulling (trichotillomania) and hair eating (trichophagia). It occurs most often in women under 30, which associated with trichotillomania. Trichobiosis of the stomach is very rare. If diagnosed on time and treated successfully, it does not cause considerable complications. In this study, we report a case of a 10-years-old female with epigastric pains for 2 months. The patient underwent diagnostic endoscopy due to a palpable mass in her epigastrium revealing gastric trichobezoar for which, she underwent surgical intervention. Detailed history taken from her revealed the history of trichotillomania and trichophagia since 3 years of age.

Treatment of patients with inborn errors of immunity should not be postponed until genetic confirmation

2026-02-16T13:17:57+0330

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