case_images: PMC10945545_01
case_images: CT enterography. In the D2 part of the duodenum, a mosaic distribution of folds is present, some of them are thickened and lowered [(A, B), yellow arrow], while some merge into plates [(C), orange arrow] and form pseudopolypoid lesions [(A, D), red arrow]. After the second knee of the duodenum, the folds are thinned [(A), green arrow]. In the jejunum, the height and number of folds are preserved, but in several foci they are grouped into pseudopolypoid lesions [(E, F), blue arrows]. There are longer spasms of ileal loops, possibly as a result of infiltration [(G), blue arrows], surrounded by fibrolipomatous proliferation of the mesentery [(I), blue arrows]. The patient's spleen is absent, in its expected position there is presence of peritoneal fat [(H), purple asterisks].
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case_images: PMC10945545_01_fimmu-15-1324679-g001.jpg
case_images: f1
case_images: During the following seventeen years, the patient continued intravenous IRT with only occasional respiratory and intestinal infections which were successfully treated conservatively without sequelae. Due to abdominal pain, frequent diarrhea, and weight loss (body mass index 16,75 kg/m2), an esophagogastroduodenoscopy and computed tomography (CT) enterography was performed at the age of thirty-three years ( Figure 1 ).
case_images: CT of the lung. In the lungs there are multiple foci of "crazy-paving" depicted by ground-glass opacities [Image (A-D), yellow arrows] permeated by thickened septal interstitium [(B, D), orange arrow], with air-bronchogram and traction bronchiectasis [(A, B), red arrow], and thickened subpleural bands [(C), blue arrow]. Described lesions of organizing pneumonia are localized in the upper left lobe in apicoposterior segment [(E), yellow arrow] and lingula [(F-I), orange arrow], upper right lobe anterior segment [(F, G), red arrow], right lower lobe [(H-K), blue arrow] and left lower lobe posterobasal segment [(K), green arrow]. Pulmonary artery is dilatated, with transversal diameter of 35 mm [(L, M), purple arrow].
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case_images: PMC10945545_01_fimmu-15-1324679-g002.jpg
case_images: f2
case_images: Eight months after the first COVID-19 episode, she was admitted to the hospital with fever, cough, anorexia, elevated inflammatory parameters, and bilateral pneumonia ( Figure 2 ).
case_images: Integrative Genomics Viewer (IGV) showing insertion of one adenine nucleotide at position c.441 in exon 4 of the SPI gene.
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case_images: PMC10945545_01_fimmu-15-1324679-g003.jpg
case_images: f3
case_images: CA, USA). Clinical exome sequencing revealed the presence of a frameshift heterozygous variant c.441dup (p.Asp148Ter) in exon 4 of the SPI1 gene (NM_001080547) ( Figure 3 ).
case_images: Brain MRI. T2W MRI scans depicts generalized cerebral atrophy with enlarged ventricular system [(A, B), yellow arrow], and subarachnoid spaces [(D), green arrow]. There is bifrontoparietal pachymeningopathy on postcontrast FLAIR [(C), blue arrow]. T2W/SWI MRI scans depicts hypointensity as part of ferro deposition on both side in the dentate nuclei [(E), purple arrow] and the globus pallidus [(F), red arrow].
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case_images: PMC10945545_01_fimmu-15-1324679-g004.jpg
case_images: f4
case_images: Figure 4 ). Fluorine-18 fluorodeoxy-glucose positron emission tomography/computed tomography (18F-FDG PET/CT) of endocranium was performed using 18F-FDG and low-dose plain CT (5mm slice thickness).
case_images: Timeline of major clinical events of the patient. ARA-autosomal-recessive agammaglobulinemia, IRT-immunoglobulin replacement therapy, HSCT- hematopoietic stem cell transplant, IVIG-intravenous immunoglobulin, HLA-human leukocyte antigen, COVID-19- coronavirus disease 2019, SIBO-small intestine bacterial overgrowth, NGS-Next-generation sequencing, PU.MA-PU.1 mutated agammaglobulinemia.
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case_images: PMC10945545_01_fimmu-15-1324679-g005.jpg
case_images: f5
case_images: Despite meticulously customized antibiotics, immunosupportive, and oxygen therapy, the patient ultimately passed away ten months after experiencing the first symptoms of neurocognitive symptoms ( Figure 5 ).