Activity
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| Primary immunodeficiency or monogenic inflammatory bowel disease v8.88 | PSMB10 | Ida Ertmanska changed review comment from: Comment on mode of inheritance: There are now more than 3 cases reported with both mono- and bi- allelic PSMB10 variants - presenting with a proteasome-associated autoinflammatory syndrome (with or without recurrent infections and chronic diarrhea). Hence, the MOI should be updated to BOTH monoallelic and biallelic, autosomal or pseudoautosomal.; to: Comment on mode of inheritance: There are now more than 3 cases reported with both mono- and bi- allelic PSMB10 variants - presenting with a proteasome-associated autoinflammatory syndrome (with or without recurrent infections and chronic diarrhea). Hence, the MOI should be updated to BOTH monoallelic and biallelic, autosomal or pseudoautosomal. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Primary immunodeficiency or monogenic inflammatory bowel disease v8.80 | PSMB10 | Ida Ertmanska commented on gene: PSMB10: Comment on mode of inheritance: There are now more than 3 cases reported with both mono- and bi- allelic PSMB10 variants - presenting with a proteasome-associated autoinflammatory syndrome (with or without recurrent infections and chronic diarrhea). Hence, the MOI should be updated to BOTH monoallelic and biallelic, autosomal or pseudoautosomal. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Primary immunodeficiency or monogenic inflammatory bowel disease v8.80 | PSMB10 | Ida Ertmanska Phenotypes for gene: PSMB10 were changed from Proteasome-associated autoinflammatory syndrome 5, OMIM:619175 to Immunodeficiency 121 with autoinflammation, OMIM:620807; Proteasome-associated autoinflammatory syndrome 5, OMIM:619175 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Primary immunodeficiency or monogenic inflammatory bowel disease v8.79 | PSMB10 | Ida Ertmanska Publications for gene: PSMB10 were set to 31783057; 37600812 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Primary immunodeficiency or monogenic inflammatory bowel disease v8.78 | PSMB10 | Ida Ertmanska Tag Q1_26_NHS_review tag was added to gene: PSMB10. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Primary immunodeficiency or monogenic inflammatory bowel disease v8.78 | PSMB10 | Ida Ertmanska Tag Q1_26_MOI tag was added to gene: PSMB10. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Primary immunodeficiency or monogenic inflammatory bowel disease v8.78 | PSMB10 |
Ida Ertmanska changed review comment from: MONOALLELIC CASES: PMID: 36250618 Hebert et al., 2022 Patient 1 - severe combined immunodeficiency (SCID), ectodermal dysplasia, alopecia, hypodontia and anonychia; het de novo PSMB10 NM_002801.3: c.601G>A p.(Gly201Arg) variant. PMID: 38503300 van der Made et al., 2024 Identified de novo PSMB10 mutations in 6 infants with SCID-Omenn syndrome. The syndromic presentation includes severe combined immunodeficiency (SCID), as well as diarrhea (6/6), alopecia (4/5), and desquamating erythematous rash (6/6). Reported variants: PSMB10: c.166G>C, p.Asp56His and c.601G>A/c.601G>C, p.Gly201Arg. PMID: 39734035 Kuehn et al., 2025 Case report: white female with SCID, failure to thrive, diarrhea, and pruritic rash - symptom onset at 5-9 months. Trio WES identified a de novo PSMB10 variant in the proband: c.601G>A, p.Gly201Arg. https://doi.org/10.70962/jhi.20250096 Fournier et al., 2025 Report of 3 patients with WES detected de novo heterozygous PSMB10 variants: c.614A>C p.Asp205Ala for PI and c.623C>T p.Ser208Phe for PII and PIII. Presentation: combined immunodeficiency (3/3), generalized erythroderma with desquamation (1/3), chronic diarrhea (2/3), severe liver disease (2/3). Functional evidence: PSMB10 constructs were expressed in HEK293T cells prior to SDS-PAGE/western blotting analysis. The p.Asp205Ala and p.Ser208Phe PSMB10 variants were shown to impair proteasome assembly and exert dominant-negative effects on PSMB9 expression. BIALLELIC CASES: PMID: 31783057 Sarrabay et al., 2020 3yo girl with a proteasome-associated autoinflammatory syndrome, homozygous for a PSMB10 c.41T>C, p.Phe14Ser variant. She presented with failure to thrive, cutaneous rash, and hepatosplenomegaly. No immunodeficiency. PMID: 37600812 Papendorf et al., 2023 Three unrelated Brazilian patients present with four novel PSMB10 variants. All share the p.Phe14del variant plus a different novel variant: p.Gly167Asp, p.Cys83Leufs*123, and c.710+1G>C. PSMB10 is now associated with AD Immunodeficiency 121 with autoinflammation, MIM:620807 & AR Proteasome-associated autoinflammatory syndrome 5, MIM:619175 (OMIM accessed 10th Mar 2026).; to: MONOALLELIC CASES: PMID: 36250618 Hebert et al., 2022 Patient 1 - severe combined immunodeficiency (SCID), ectodermal dysplasia, alopecia, hypodontia and anonychia; het de novo PSMB10 NM_002801.3: c.601G>A p.(Gly201Arg) variant. PMID: 38503300 van der Made et al., 2024 Identified de novo PSMB10 mutations in 6 infants with SCID-Omenn syndrome. The syndromic presentation includes severe combined immunodeficiency (SCID), as well as diarrhea (6/6), alopecia (4/5), and desquamating erythematous rash (6/6). Reported variants: PSMB10: c.166G>C, p.Asp56His and c.601G>A/c.601G>C, p.Gly201Arg. PMID: 39734035 Kuehn et al., 2025 Case report: white female with SCID, failure to thrive, diarrhea, and pruritic rash - symptom onset at 5-9 months. Trio WES identified a de novo PSMB10 variant in the proband: c.601G>A, p.Gly201Arg. https://doi.org/10.70962/jhi.20250096 Fournier et al., 2025 Report of 3 patients with WES detected de novo heterozygous PSMB10 variants: c.614A>C p.Asp205Ala for PI and c.623C>T p.Ser208Phe for PII and PIII. Presentation: combined immunodeficiency (3/3), generalized erythroderma with desquamation (1/3), chronic diarrhea (2/3), severe liver disease (2/3). Functional evidence: PSMB10 constructs were expressed in HEK293T cells prior to SDS-PAGE/western blotting analysis. The p.Asp205Ala and p.Ser208Phe PSMB10 variants were shown to impair proteasome assembly and exert dominant-negative effects on PSMB9 expression. BIALLELIC CASES: PMID: 31783057 Sarrabay et al., 2020 3yo girl with a proteasome-associated autoinflammatory syndrome, homozygous for a PSMB10 c.41T>C, p.Phe14Ser variant. She presented with failure to thrive, cutaneous rash, and hepatosplenomegaly. No immunodeficiency. PMID: 37600812 Papendorf et al., 2023 Three unrelated Brazilian patients present with four novel PSMB10 variants. All share the p.Phe14del variant plus a different novel variant: p.Gly167Asp, p.Cys83Leufs*123, and c.710+1G>C. All 3 patients had skin lesions, recurrent fevers, failure to thrive; microcytic anemia ascertained in 2/3. PSMB10 is now associated with AD Immunodeficiency 121 with autoinflammation, MIM:620807 & AR Proteasome-associated autoinflammatory syndrome 5, MIM:619175 (OMIM accessed 10th Mar 2026). |
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| Primary immunodeficiency or monogenic inflammatory bowel disease v8.78 | PSMB10 | Ida Ertmanska edited their review of gene: PSMB10: Changed publications to: 31783057, 36250618, 37600812, 38503300, 39734035 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Primary immunodeficiency or monogenic inflammatory bowel disease v8.78 | PSMB10 |
Ida Ertmanska changed review comment from: PMID: 36250618 Hebert et al., 2022 Patient 1 - severe combined immunodeficiency (SCID), ectodermal dysplasia, alopecia, hypodontia and anonychia; het de novo PSMB10 NM_002801.3: c.601G>A p.(Gly201Arg) variant. PMID: 38503300 van der Made et al., 2024 Identified de novo PSMB10 mutations in 6 infants with SCID-Omenn syndrome. The syndromic presentation includes severe combined immunodeficiency (SCID), as well as diarrhea (6/6), alopecia (4/5), and desquamating erythematous rash (6/6). Reported variants: PSMB10: c.166G>C, p.Asp56His and c.601G>A/c.601G>C, p.Gly201Arg. PMID: 39734035 Kuehn et al., 2025 Case report: white female with SCID, failure to thrive, diarrhea, and pruritic rash - symptom onset at 5-9 months. Trio WES identified a de novo PSMB10 variant in the proband: c.601G>A, p.Gly201Arg. https://doi.org/10.70962/jhi.20250096 Fournier et al., 2025 Report of 3 patients with WES detected de novo heterozygous PSMB10 variants: c.614A>C p.Asp205Ala for PI and c.623C>T p.Ser208Phe for PII and PIII. Presentation: combined immunodeficiency (3/3), generalized erythroderma with desquamation (1/3), chronic diarrhea (2/3), severe liver disease (2/3). Functional evidence: PSMB10 constructs were expressed in HEK293T cells prior to SDS-PAGE/western blotting analysis. The p.Asp205Ala and p.Ser208Phe PSMB10 variants were shown to impair proteasome assembly and exert dominant-negative effects on PSMB9 expression. PSMB10 is now associated with AD Immunodeficiency 121 with autoinflammation, MIM:620807 & AR Proteasome-associated autoinflammatory syndrome 5, MIM:619175 (OMIM accessed 10th Mar 2026).; to: MONOALLELIC CASES: PMID: 36250618 Hebert et al., 2022 Patient 1 - severe combined immunodeficiency (SCID), ectodermal dysplasia, alopecia, hypodontia and anonychia; het de novo PSMB10 NM_002801.3: c.601G>A p.(Gly201Arg) variant. PMID: 38503300 van der Made et al., 2024 Identified de novo PSMB10 mutations in 6 infants with SCID-Omenn syndrome. The syndromic presentation includes severe combined immunodeficiency (SCID), as well as diarrhea (6/6), alopecia (4/5), and desquamating erythematous rash (6/6). Reported variants: PSMB10: c.166G>C, p.Asp56His and c.601G>A/c.601G>C, p.Gly201Arg. PMID: 39734035 Kuehn et al., 2025 Case report: white female with SCID, failure to thrive, diarrhea, and pruritic rash - symptom onset at 5-9 months. Trio WES identified a de novo PSMB10 variant in the proband: c.601G>A, p.Gly201Arg. https://doi.org/10.70962/jhi.20250096 Fournier et al., 2025 Report of 3 patients with WES detected de novo heterozygous PSMB10 variants: c.614A>C p.Asp205Ala for PI and c.623C>T p.Ser208Phe for PII and PIII. Presentation: combined immunodeficiency (3/3), generalized erythroderma with desquamation (1/3), chronic diarrhea (2/3), severe liver disease (2/3). Functional evidence: PSMB10 constructs were expressed in HEK293T cells prior to SDS-PAGE/western blotting analysis. The p.Asp205Ala and p.Ser208Phe PSMB10 variants were shown to impair proteasome assembly and exert dominant-negative effects on PSMB9 expression. BIALLELIC CASES: PMID: 31783057 Sarrabay et al., 2020 3yo girl with a proteasome-associated autoinflammatory syndrome, homozygous for a PSMB10 c.41T>C, p.Phe14Ser variant. She presented with failure to thrive, cutaneous rash, and hepatosplenomegaly. No immunodeficiency. PMID: 37600812 Papendorf et al., 2023 Three unrelated Brazilian patients present with four novel PSMB10 variants. All share the p.Phe14del variant plus a different novel variant: p.Gly167Asp, p.Cys83Leufs*123, and c.710+1G>C. PSMB10 is now associated with AD Immunodeficiency 121 with autoinflammation, MIM:620807 & AR Proteasome-associated autoinflammatory syndrome 5, MIM:619175 (OMIM accessed 10th Mar 2026). |
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| Primary immunodeficiency or monogenic inflammatory bowel disease v8.78 | PSMB10 | Ida Ertmanska reviewed gene: PSMB10: Rating: GREEN; Mode of pathogenicity: None; Publications: 36250618, 38503300, 39734035; Phenotypes: Immunodeficiency 121 with autoinflammation, OMIM:620807, Proteasome-associated autoinflammatory syndrome 5, OMIM:619175; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Primary immunodeficiency or monogenic inflammatory bowel disease v8.78 | PSMB10 | Sophie Hambleton changed review comment from: In addition to its behaviour as an AR disease gene for PRAAS (ie an autoinflammatory disorder), de novo, heterozygous variants in PSMB10 are now recognised to cause a distinct phenotype, sometimes known as "PRAAS-ID", characterised by profound lymphopenia, combined immunodeficiency and inflammatory phenomena resembling Omenn's syndrome. A total of 10 cases have been reported at time of writing (summarised in doi:10.70962/jhi.20250096), of whom six bore p.Gly201Arg, two p.Ser208Phe and one each p.Asp205Ala and p.Asp56His.; to: In addition to its behaviour as an AR disease gene for PRAAS (ie an autoinflammatory disorder), de novo, heterozygous variants in PSMB10 are now recognised to cause a distinct phenotype, sometimes known as "PRAAS-ID", characterised by profound lymphopenia, combined immunodeficiency and inflammatory phenomena resembling Omenn's syndrome. A total of 10 cases have been reported at time of writing (summarised in doi:10.70962/jhi.20250096), of whom six bore p.Gly201Arg, two p.Ser208Phe and one each p.Asp205Ala and p.Asp56His. Recognised as a monoallelic form of combined immunodeficiency in Table 1 of the 2024 IUIS classification of inborn errors of immunity. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Primary immunodeficiency or monogenic inflammatory bowel disease v8.78 | PSMB10 | Sophie Hambleton reviewed gene: PSMB10: Rating: GREEN; Mode of pathogenicity: None; Publications: 38503300, 39734035, doi:10.70962/jhi.20250096; Phenotypes: SCID, Omenn syndrome, liver disease; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted; Current diagnostic: yes | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Primary immunodeficiency or monogenic inflammatory bowel disease v5.3 | PSMB10 |
Achchuthan Shanmugasundram Tag Q4_23_promote_green was removed from gene: PSMB10. Tag Q4_23_NHS_review was removed from gene: PSMB10. |
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| Primary immunodeficiency or monogenic inflammatory bowel disease v5.3 | PSMB10 | Sarah Leigh edited their review of gene: PSMB10: Added comment: The rating of this gene has been updated to green and the mode of inheritance updated to BIALLELIC, autosomal or pseudoautosomal following NHS Genomic Medicine Service approval.; Changed rating: GREEN; Changed mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Primary immunodeficiency or monogenic inflammatory bowel disease v5.2 | PSMB10 |
Achchuthan Shanmugasundram Source NHS GMS was added to PSMB10. Source Expert Review Green was added to PSMB10. Rating Changed from Amber List (moderate evidence) to Green List (high evidence) |
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| Primary immunodeficiency or monogenic inflammatory bowel disease v4.67 | PSMB10 | Achchuthan Shanmugasundram Classified gene: PSMB10 as Amber List (moderate evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Primary immunodeficiency or monogenic inflammatory bowel disease v4.67 | PSMB10 | Achchuthan Shanmugasundram Added comment: Comment on list classification: As reviewed by Hannah Knight, there is sufficient evidence for the promotion of this gene to green rating in this panel. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Primary immunodeficiency or monogenic inflammatory bowel disease v4.67 | PSMB10 | Achchuthan Shanmugasundram Gene: psmb10 has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Primary immunodeficiency or monogenic inflammatory bowel disease v4.66 | PSMB10 | Achchuthan Shanmugasundram Phenotypes for gene: PSMB10 were changed from Proteasome-associated autoinflammatory syndrome (PRAAS) to Proteasome-associated autoinflammatory syndrome 5, OMIM:619175 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Primary immunodeficiency or monogenic inflammatory bowel disease v4.65 | PSMB10 | Achchuthan Shanmugasundram Publications for gene: PSMB10 were set to 31783057 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Primary immunodeficiency or monogenic inflammatory bowel disease v4.64 | PSMB10 |
Achchuthan Shanmugasundram Tag Q4_23_promote_green tag was added to gene: PSMB10. Tag Q4_23_NHS_review tag was added to gene: PSMB10. |
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| Primary immunodeficiency or monogenic inflammatory bowel disease v4.64 | PSMB10 | Achchuthan Shanmugasundram reviewed gene: PSMB10: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Proteasome-associated autoinflammatory syndrome 5, OMIM:619175; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Primary immunodeficiency or monogenic inflammatory bowel disease v4.50 | PSMB10 | Hannah Knight reviewed gene: PSMB10: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID: 37600812; Phenotypes: Proteasome-associated autoinflammatory syndrome 5; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Primary immunodeficiency or monogenic inflammatory bowel disease v2.55 | PSMB10 | Sarah Leigh Classified gene: PSMB10 as Amber List (moderate evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Primary immunodeficiency or monogenic inflammatory bowel disease v2.55 | PSMB10 | Sarah Leigh Added comment: Comment on list classification: Not associated with phenotype in OMIM (last edited on 06/25/2007) or in Gen2Phen. PMID 31783057 reports a case of Proteasome-associated autoinflammatory syndrome in an infant with a biallelic variant (c.41T>C, p.Phe14Ser), together with supporting functional studies. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Primary immunodeficiency or monogenic inflammatory bowel disease v2.55 | PSMB10 | Sarah Leigh Gene: psmb10 has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Primary immunodeficiency or monogenic inflammatory bowel disease v2.54 | PSMB10 | Sarah Leigh Phenotypes for gene: PSMB10 were changed from Proteasome-associated autoinflammatory syndrome to Proteasome-associated autoinflammatory syndrome (PRAAS) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Primary immunodeficiency or monogenic inflammatory bowel disease v2.6 | PSMB10 | Louise Daugherty Classified gene: PSMB10 as Red List (low evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Primary immunodeficiency or monogenic inflammatory bowel disease v2.6 | PSMB10 | Louise Daugherty Added comment: Comment on list classification: New gene for review. Single case recommend Red rating | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Primary immunodeficiency or monogenic inflammatory bowel disease v2.6 | PSMB10 | Louise Daugherty Gene: psmb10 has been classified as Red List (Low Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Primary immunodeficiency or monogenic inflammatory bowel disease v2.0 | PSMB10 | Louise Daugherty reviewed gene: PSMB10: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: None | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Primary immunodeficiency or monogenic inflammatory bowel disease v2.0 | PSMB10 |
Owen Siggs gene: PSMB10 was added gene: PSMB10 was added to Primary immunodeficiency. Sources: Literature Mode of inheritance for gene: PSMB10 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: PSMB10 were set to 31783057 Phenotypes for gene: PSMB10 were set to Proteasome-associated autoinflammatory syndrome Review for gene: PSMB10 was set to AMBER Added comment: Single case, homozygous missense variant, good functional experimental support. Sources: Literature |
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