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. 2019 Oct 1;10:2325. doi: 10.3389/fimmu.2019.02325

Table 2.

Main clinical features of patients with relevant genetic findings.

ID Sex Age at study (y) Gene Family history Consanguinity Age of onset (y) Syndromic features Infections Autoimmunity Lymphoproliferation Inflammation Main clinical features, key words Treatment
PATIENTS WITH MUTATIONS IN PID GENES (2017 IUIS CLASSIFICATION)
P1 M 15 PIK3R1 7 V Malign Gut IgA deficiency, immune dysregulation, growth delay, enteropathy, intestinal large bowel lymphoma IVIG, immunosuppression (rapamycin and rituximab)
P2 F 57 TNFRSF13B 14 B Benign Gut, lung CVID, infections, GLILD, granulomas, adenopathies, pancytopenia IVIG, immunosuppression (rituximab, corticoids, azathioprine), antibiotics
P3 F 8 TNFRSF13B 3 B, V Benign EBV, pancytopenia, hepatosplenomegaly, hypogammaglobulinemia, ALPS-like, CVID-like IVIG, rapamycin
P4 M 18 IKBKG 14 Gut, joints Crohn's disease, joint affectation, CGD, NEMO deficiency Infliximab
P5 F 10 STAT3 4 B, F, Myc Hyper IgE, atypical mycobacteria Antifungal prophylaxis, vitamin D, IVIG, antibiotics
P6 M 2 XIAP 0.8 B Gut Enteropathy, bacterial infection, growth delay IVIG, patient died
P7 M 1 G6PD 0.3 B Bone Osteomyelitis, Salmonella spp. -
P8 M 30 STAT1 0.0 F Skin, mucosa Dermatophytosis, oral candidiasis Antifungal prophylaxis,
P9 F 4 STAT1 0.8 F Joints CMC, polyarthritis, episcleritis, bronchiectasis Ruxolitinib, HSCT
P10 M 6 STAT1 4 F Familial CMC Antifungal prophylaxis
P11 F 12 PLCG2 0.8 B Skin, lungs Agammaglobulinemia, severe cutaneous inflammation, bronchiectasis, B cell lymphopenia, growth delay IVIG, antibiotics, corticosteroids, etanercept, anakinra
P12 M 15 ADA 8 B Malign Hodgkin lymphoma, B cell deficiency Chemotherapy
PATIENTS WITH MUTATIONS IN GENES NOT INCLUDED IN THE PID CLASSIFICATION
P13 M 5 SKIV2L 0.8 B Gut Inflammatory enteropathy, growth delay Antibiotics, IVIG, adalimumab, immunosuppression (azathioprine, prednisone, rapamycin)
P14 M 0.25 MMACHC 0.1 fHLH, XLP Died before diagnosis
P15 F 44 SLC27A4 n.a. Skin Netherton syndrome -
P16 F 0.3 DSG1 0.3 B Erythroderma, Netherton syndrome, hyper IgE, eosinophilia Infliximab, adalimumab, cyclosporine
P17 F 1 DNAI2 0.1 V, F Malign Recurrent bronchitis, biphenotypic leukemia, growth delay HSCT (due to leukemia)
P18 M 38 SIX6 n.a. B CID, Low IgA IVIG
P19 M 5 RECQL4 1 V, F CVID, growth delay IVIG, antibiotic prophylaxis
PATIENTS WITH INCOMPLETE GENOTYPES/VARIANTS OF UNCERTAIN SIGNIFICATE (VUS)
P20 M 11 UNC13D 8 V Malign Gut Pancytopenia, hepatosplenomegaly, hemophagocytosis, panniculitic T cell lymphoma HSCT (due to T cell lymphoma)
P21 M 13 RAG2 6 Benign Systemic Persistent fever, intermittent abdominal pain, granulomatous hepatitis Immunosuppression (methotrexate + colchicine + corticosteroids)
P22 M 4 PLCG2 1 V Skin Periodic fever, skin rash -
P23 F 11 TRAF3 11 V Herpes Zoster, VZV meningoencephalitis -
P24 M 2 NOD2 0.6 Gut Early-onset colitis -
PATIENTS WITH GENETIC FINDINGS POST-CLINICAL EXOME
P25 F 8 LRBA 0.7 B, V, F Malign Gut EBV, lymphoproliferation, autoimmunity, infections, dysregulation, enteropathy, autoimmune cytopenia IVIG, rapamycin, antibiotic prophylaxis, HSCT
P26 F 11 LRBA 2 V Benign ALPS IVIG, abatacept
P27 F 7 LRBA 7 B Benign Antibody deficiency, autoimmunity, lymphoproliferative syndrome IVIG, abatacept
P28 F 14 IKZF1 5 B Agammaglobulinemia, neurological delay IVIG
P29 M 9 13 Mb del cr.6 0.0 B, V Neutrophilic dermatosis, oral and genital aphthae, growth delay Etanercept
P30 M 6 BTK 4 B Pneumonia, hypogammaglobulinemia, absence of B cells IVIG
P31 M 25 Gorham-Staut disease 21 B Joints Osteopenia, chylothorax, lymphopenia, S.Aureus bacteremia, septic arthritis -

n.a., not available; –, no; V, virus; B, bacteria; F, fungi; Myc, mycobacteria; ALPS, autoimmune lymphoproliferative syndrome; CID, combined immunodeficiency; CGD, chronic granulomatous disease; CMC, chronic mucocutaneous candidiasis; CVID, common variable immunodeficiency; EBV, Epstein-Barr virus; fHLH, familial hemophagocytic lymphohistiocytosis; GLILD, granulomatous and lymphocytic interstitial lung disease; HSCT, hematopoietic stem cell transplant; IVIG, intravenous immunoglobulin; VZV, varicella-zoster virus; XLP, X-linked lymphoproliferation. √, The patient presents this feature.