Acquired diaphragmatic hernia (DH) is an uncommon but clinically important complication after pediatric liver transplantation (LT), most often affecting the right hemidiaphragm. Left-sided defects are exceptionally rare in children, with only isolated cases reported. To the best of our knowledge, this is the first documented pediatric case of left-sided DH after LT from an Arab Middle Eastern country. A 16-year-old female with autoimmune hepatitis type 2 (AIH-2) on long-term immunosuppression presented two years post-transplant with acute epigastric and left upper quadrant pain that progressed to chest discomfort and dyspnea. Initial radiography suggested possible eventration, while subsequent advanced imaging revealed a left diaphragmatic defect with herniation of the gastric fundus. Surgical exploration confirmed gastric and omental herniation with ischemic changes, requiring conversion from thoracoscopy to open repair and primary closure. The patient recovered well without recurrence. This case underscores the diagnostic difficulty of post-transplant DH, particularly when delayed and left-sided, and highlights the importance of maintaining a high index of suspicion in LT recipients with unexplained abdominal or respiratory symptoms. Its atypical laterality, gastric involvement, and regional novelty broaden current understanding of this rare complication and emphasize the need for timely imaging and intervention.

Type 2 autoimmune hepatitis (AIH-2) is a rare disease presenting in early childhood. The immunopathogenetic mechanisms are poorly characterized, although a defect of regulatory T cells (Treg) has been shown. There is virtually no information on innate immune responses and natural killer (NK) cells in particular. We have performed an extended immunophenotypic and functional analysis of NK cells in children with AIH-2. We show that NK cell frequency is reduced in this setting and that the balance between NK activating and inhibitory receptors is skewed toward activation. More importantly, NK cells display an altered cytokine pattern characterized by increased IFNγ and reduced IL2 production which could contribute to impaired Treg function. Exposure of mononuclear cells to IL2 resulted in normalization of NK IFNγ production. Thus, our findings support treatment of AIH-2 with low-dose IL2, which would result in normalization of NK cell function and expansion of the Treg cell subset.

Autoimmune hepatitis is a polygenic disorder of unknown etiology, where genetic factors affect the occurrence and clinical phenotype of the disease. It has been reported as a rare disease entity in the Indian subcontinent. This study was undertaken to investigate the association of HLA alleles with autoimmune hepatitis type 1 and type 2 in north Indian population and to analyze if distinct human leukocyte antigen (HLA) alleles help in characterization of the subtypes of autoimmune hepatitis. Sixty-eight patients with autoimmune hepatitis and 128 healthy controls were recruited in the study. Out of 68 patients, 55 were diagnosed with autoimmune hepatitis type 1 and 13 with autoimmune hepatitis type 2. The patients and the controls were typed for HLA class II alleles by PCR-SSP method. HLA DRB1*04 and DRB1*08 were found to be significantly associated with autoimmune hepatitis type 1 in north Indian population. It was also observed that DRB1*04, DRB1*13 were significantly associated with pediatric autoimmune hepatitis type 1 and DRB1*08 was significantly associated with adult autoimmune hepatitis type 1. DRB1*14 was significantly associated with autoimmune hepatitis type 2. The study indicates that autoimmune hepatitis in north Indian population is associated with HLA alleles that may help to discriminate the subtypes as autoimmune hepatitis type 1 and type 2. The study also highlights the ethnic variations in the Indian subcontinent in context to the genetic association of HLA with autoimmune diseases.