case_images: PMC11284534_01
case_images: Histopathology of intestinal biopsy samples suggests inflammation and enteropathy. (A) Duodenal mucosal biopsy was performed and revealed sparse infiltration by lymphocytes, and eosinophils, indicated by arrows. (B) Sigmoid mucosal biopsy showed mild colitis, with lymphocytic and neutrophilic infiltration, indicated by arrows, in the lamina propria. (C) Apoptotic bodies, indicated by arrows, were noted in the crypts. (D) Apoptotic bodies, indicated by arrows, were noted in the crypt abscess.
case_images: fimmu-15-1406781-g001.jpg
case_images: PMC11284534_01_fimmu-15-1406781-g001.jpg
case_images: f1
case_images: Duodenal mucosal biopsy was performed and revealed sparse infiltration by lymphocytes and eosinophils ( Figure 1A ). A sigmoid mucosal biopsy showed mild colitis, with lymphocytic and neutrophilic infiltration in the lamina propria ( Figure 1B ). A note was also made of few apoptotic bodies in the crypts ( Figure 1C ) and crypt abscess ( Figure 1D ).
case_images: A novel DIAPH1 mutation ablating protein expression in a patient with enteropathy, microcephaly and cortical blindness. (A) Schematic overview of the time course regarding symptom presentation and treatment. (B) Pedigree of the patient's family. Double bar indicates parental consanguinity. A novel homozygous DIAPH1 mutation c.2081delC, causing frameshift mutation P703fs*65 in the DIAPH1/mDia1 protein, was identified using trio-design whole exome sequencing. (C) Schematic of the DIAPH1 protein, showing the location of variants causing an autosomal recessive disease that includes both Seizures, Cortical blindness, and Microcephaly Syndrome (SCBMS) and variable immune deficiency and dysregulation. GBD denotes GTPase binding domain, DID denotes Dia inhibitory domain, CC denotes coiled-coil domain, FH1 denotes formin homology domain 1, FH2 denotes formin homology domain 2, DAD denotes Dia autoregulatory domain. Amino acid locations are indicated below. (D) Western blot using protein lysate prepared from peripheral blood mononuclear cells (PBMC) of three healthy controls (HC1-HC3) and the patient.
case_images: fimmu-15-1406781-g002.jpg
case_images: PMC11284534_01_fimmu-15-1406781-g002.jpg
case_images: f2
case_images: Unfortunately, the child expired at 22 months of age, when she presented with acute diarrhea with underlying chronic malnutrition (weight 5.3 kg) ( Figure 2A ).