Immunodeficiency 89 and Autoimmunity: Comprehensive Disease-Characteristics Report

Executive summary and evidence limits

Immunodeficiency 89 and autoimmunity is an exceptionally rare, proposed autosomal-recessive inborn error of immunity associated with biallelic CARD10 variants. Its disease definition rests principally on two adult siblings from one consanguineous family, both homozygous for CARD10 NM-reference-dependent c.1258C>T, p.(Arg420Cys). Consequently, the phenotype, penetrance, prognosis, and causal mechanism remain provisional rather than independently replicated. Open Targets maps the disorder to MONDO:0030484, CARD10, and the disease-defining publication, PMID 32238915. (OpenTargets Search: Immunodeficiency 89 with autoimmunity, yang2020mutantcard10in pages 1-2)

The primary article was received 15 March 2020, accepted 17 March, and published online 1 April 2020: Yang et al., Cellular & Molecular Immunology 17:782–784, DOI 10.1038/s41423-020-0423-x, PMID 32238915. Its appropriately cautious conclusion was: “we identified a CARD10 mutation as the possible cause of a novel form of autosomal recessive genetic disease characterized by primary immunodeficiency accompanied by autoimmune disease.” (yang2020mutantcard10in pages 1-2, yang2020mutantcard10in pages 2-3)

Table: Compact evidence-grade summary of the genetic, clinical, molecular, and mechanistic findings supporting Immunodeficiency 89 and autoimmunity, with major evidence gaps explicitly identified.

1. Disease information

Definition

The disease is a slowly progressive combination of:

• susceptibility to recurrent infection;
• immune dysregulation/autoimmunity, including autoimmune anemia and intestinal inflammation;
• allergic disease, notably asthma and urticaria; and
• secondary pulmonary structural damage in the more severely affected individual.

This is best classified as a Mendelian inborn error of immunity with immunodeficiency and immune dysregulation, rather than as isolated antibody deficiency or classic severe combined immunodeficiency. (yang2020mutantcard10in pages 1-2)

Identifiers and synonyms

• MONDO: MONDO:0030484.
• Causal-gene association: CARD10, Ensembl ENSG00000100065; approved name caspase recruitment domain family member 10.
• Primary-literature identifier: PMID 32238915.
• Synonyms: “CARD10-related immunodeficiency and autoimmunity,” “CARD10 deficiency,” “CARMA3-associated immunodeficiency,” and “progressive immunodeficiency and autoimmunity due to CARD10 mutation.” The latter terms are descriptive and should not automatically be treated as independently curated disease entities.
• OMIM/Orphanet/MeSH: no disease-specific identifier was established from the retrieved evidence; the database entry should not infer one without direct verification.
• ICD-10/ICD-11: no dedicated code is documented. Generic coding would require separate codes for immunodeficiency, autoimmune disease, bronchiectasis, asthma, anemia, and Crohn disease.

The evidence is aggregated disease-level literature derived from a single family study, not an EHR-derived cohort or population registry. (OpenTargets Search: Immunodeficiency 89 with autoimmunity, yang2020mutantcard10in pages 1-2)

2. Etiology

Causal factor

The proposed cause is a germline homozygous missense CARD10 variant, c.1258C>T, p.(Arg420Cys), in exon 7. Arg420 lies in a conserved coiled-coil region. Sanger sequencing confirmed the exome result and family segregation. Structural modeling predicted altered hydrogen bonding, alpha-helical hydrophobicity, and stability, while reconstitution experiments showed reduced CARD10 transcript and protein abundance. These findings support impaired function, but the allele has not been conclusively classified as complete loss-of-function, hypomorphic, gain-of-function, or dominant-negative. (yang2020mutantcard10in pages 1-2, yang2020mutantcard10in pages 2-3)

Risk and protective factors

• Established genetic risk: homozygosity for p.Arg420Cys in the reported family.
• Consanguinity: facilitated homozygosity and supports recessive inheritance.
• Possible environmental modifiers: the more severely affected brother had an “unhealthy lifestyle” and metal-dust exposure and developed disease earlier than his sister. This is an uncontrolled within-family observation, not proof of a gene–environment interaction. (yang2020mutantcard10in pages 2-3)
• Sex, age, family history: one male and one female were affected; this establishes neither a sex effect nor an age-specific risk estimate.
• Protective factors: none demonstrated. The sister’s healthier lifestyle was associated with milder disease, but cannot be interpreted as protective causally.
• Modifier genes, susceptibility loci, protective alleles, toxins, diet, smoking, alcohol, or occupational-dose relationships: no disease-specific data.

3. Phenotypes

Because only two people are reported, “2/2” and “1/2” below are case-series observations, not stable population frequencies.

The brother’s age-42 high-resolution CT showed “bronchiectasis with infection, lung abscess, and pulmonary bulla”; the sister’s age-42 gastrointestinal biopsy showed proliferative gastritis and colitis. (yang2020mutantcard10in pages 1-2, yang2020mutantcard10in pages 2-3)

No validated EQ-5D, SF-36, PROMIS, behavioral, neurocognitive, or disease-specific quality-of-life measurements exist. Recurrent infection, chronic airway injury, asthma, anemia, and bowel inflammation would plausibly impair daily function, but the magnitude has not been measured.

4. Genetic and molecular information

• Gene: CARD10, also called CARMA3; protein: caspase recruitment domain-containing protein 10.
• Variant: c.1258C>T; p.(Arg420Cys), commonly abbreviated R420C.
• Origin: constitutional/germline, homozygous in both siblings.
• Class: missense variant in exon 7 and the coiled-coil domain.
• Inheritance: proposed autosomal recessive.
• Functional evidence: reduced CARD10 mRNA and protein in reconstitution studies; altered structure was computationally predicted, not structurally demonstrated. (yang2020mutantcard10in pages 1-2, yang2020mutantcard10in pages 2-3)
• ACMG/ClinVar status: not established from the retrieved records. “Disease-causing” was the authors’ prediction; it should not be equated automatically with a current expert-panel pathogenic classification.
• Population allele frequency: not reported in the retrieved evidence.
• Mechanistic class: likely impaired abundance/function, but unresolved. A 2024 functional study stressed that CARD10’s high basal activity in overexpression systems complicates variant interpretation, and stated that human CARD10 mutations had been associated with several phenotypes without establishing whether they are activating or inactivating. (staal2024chimericandmutant pages 1-3, staal2024chimericandmutant pages 39-39)
• Modifier genes/epigenetics: none identified.
• Chromosomal abnormalities: none reported; this is a sequence-level disorder.
• Somatic variation: not implicated in this disease.

5. Environmental information

No environmental exposure is established as necessary or sufficient. Metal-dust exposure and unhealthy lifestyle coincided with earlier, more severe illness in the brother; the authors proposed environmental modification, but there was no exposure quantification, control group, toxicology, or mechanistic assay. (yang2020mutantcard10in pages 2-3)

Infectious organisms were not specified. Infections are therefore interpreted as consequences/triggers acting on an inherited susceptibility, not the primary etiology. No evidence addresses smoking, alcohol, diet, exercise, pollution, radiation, microbiome composition, or specific occupational chemicals.

6. Mechanism and pathophysiology

Ordered causal chain

1. Homozygous CARD10 p.Arg420Cys leads to reduced CARD10 mRNA and protein in the reported reconstitution experiments; the exact reason for reduced abundance is unknown. (yang2020mutantcard10in pages 1-2)
2. Reduced or altered CARD10 is inferred to impair assembly or tuning of the CARD10–BCL10–MALT1 signalosome downstream of GPCRs, receptor tyrosine kinases, and epithelial TLR4-related signals; this was not directly demonstrated in patient cells. (moud2024malt1substratecleavage pages 1-2, yang2020mutantcard10in pages 1-2)
3. Altered CBM signaling is inferred to dysregulate IKK/NF-κB and JNK/AP-1 signaling, with possible effects on mTOR-linked immune activation, inflammatory transcription, cell survival, and differentiation. CARD10-specific pathway impairment by R420C remains unproven. (moud2024malt1substratecleavage pages 1-2, staal2024chimericandmutant pages 1-3)
4. Immune/hematopoietic branch: altered signaling and CARD10-dependent myeloid differentiation plausibly lead to reduced intermediate/nonclassical monocytes, abnormal monocyte-derived dendritic-cell populations, and reduced immune-cell/cytokine output, resulting in recurrent infection. Human-cell and mouse knockdown evidence supports a role for CARD10 in granulopoiesis, but direct causation in these patients is incomplete. (yang2020mutantcard10in pages 1-2, shyamsunder2018card10acebpe pages 1-7)
5. Epithelial/allergic branch: abnormal airway-epithelial CBM signaling leads, by inference from Card10-null mice, to reduced type-2 cytokines and eosinophils without necessarily eliminating airway hyperresponsiveness, producing asthma with unexpectedly low eosinophils. (yang2020mutantcard10in pages 1-2, yang2020mutantcard10in pages 2-3)
6. Gastrointestinal branch: CARD10 dysfunction in gastrointestinal epithelial signaling is inferred to disturb mucosal inflammatory homeostasis, resulting in gastritis, colitis, and Crohn-like disease. (yang2020mutantcard10in pages 1-2)
7. Immune-regulatory branch: imbalanced immune activation leads to increased autoantibodies and selected chemokines while other cytokines remain normal or low, resulting in anemia, urticaria, and autoimmune/inflammatory manifestations despite immunodeficiency. (yang2020mutantcard10in pages 1-2, yang2020mutantcard10in pages 2-3)
8. Chronic recurrent pulmonary infection leads to structural tissue injury, including bronchiectasis, abscess, and bullous change. This final clinical link is strongly plausible but was not longitudinally imaged. (yang2020mutantcard10in pages 1-2)

Current mechanistic understanding

CARD10 is a scaffold with CARD, coiled-coil, PDZ, SH3, and guanylate-kinase-like regions. It nucleates BCL10–MALT1 filaments. MALT1 then serves as both a TRAF6-recruiting scaffold driving IKK/NF-κB and JNK/AP-1 and a paracaspase whose substrate cleavage regulates immune homeostasis. A 2024 authoritative review emphasized that complete MALT1 loss causes immunodeficiency whereas selective disruption of scaffolding or protease activity can provoke autoimmune inflammation—an important conceptual explanation for concurrent immunodeficiency and autoimmunity, although not direct proof for CARD10 R420C. (moud2024malt1substratecleavage pages 1-2)

Suggested GO biological processes: NF-κB signaling; IκB kinase/NF-κB signaling; JNK cascade; immune-response activating signaling; inflammatory response; cytokine production; chemokine production; granulocyte differentiation; monocyte differentiation; dendritic-cell differentiation; response to bacterium; epithelial-cell homeostasis.

Suggested Cell Ontology terms: classical/intermediate/nonclassical monocyte; conventional dendritic cell; CD4-positive T cell; airway epithelial cell; intestinal epithelial cell; keratinocyte; granulocyte/neutrophil/eosinophil.

Subcellular annotations: cytoplasm; plasma-membrane-associated signaling complex; CARD10–BCL10–MALT1 complex; BCL10 filament; IKK complex. No disease-specific metabolomic, lipidomic, spatial-transcriptomic, single-cell, proteomic, CRISPR-screen, or integrated multi-omic dataset exists.

7. Anatomical structures affected

• Primary clinically involved systems: immune/hematopoietic system, respiratory tract and lungs, gastrointestinal mucosa, and skin/allergic system.
• Lung: bronchi and pulmonary parenchyma; bronchiectasis, infection, abscess, and bulla.
• Gastrointestinal tract: gastric and intestinal mucosa; proliferative gastritis and colitis.
• Blood/immune compartment: circulating monocytes, monocyte-derived dendritic cells, cytokines, chemokines, autoantibodies, and erythroid phenotype/anemia.
• Skin: urticaria; no CARD10-specific ectodermal dysplasia was reported.

Suggested UBERON mappings include lung, bronchus, airway epithelium, stomach, gastric mucosa, intestine, intestinal mucosa, blood, bone marrow, and skin. Suggested GO cellular components include cytosol, plasma membrane, CARD10–BCL10–MALT1 complex, and IKK complex. No lateralization is relevant. (yang2020mutantcard10in pages 1-2, yang2020mutantcard10in pages 2-3)

8. Temporal development

The precise age at first symptom was not supplied. The brother developed immunodeficiency and autoimmunity substantially earlier than his sister. Both were evaluated at age 42 for key imaging/biopsy findings. The authors characterized CARD10-related disease as slowly progressive over approximately 20–30 years, with variable severity and intermittent allergic/autoimmune manifestations superimposed on chronic infection susceptibility. (yang2020mutantcard10in pages 2-3)

No formal stages, remission rates, treatment-induced remission data, critical intervention window, or pediatric natural-history observations are available. The observed bronchiectasis argues for early recognition and infection control before irreversible airway damage, but this is clinical extrapolation rather than a CARD10-specific outcome study.

9. Inheritance and population

• Inheritance: autosomal recessive, supported by consanguinity and homozygosity in two siblings.
• Penetrance: unknown. Both known homozygous siblings were affected, but n=2 cannot establish complete penetrance.
• Expressivity: clearly variable within the family.
• Sex ratio: one male and one female; no sex bias can be estimated.
• Prevalence/incidence: unknown. Only two affected individuals from one family formed the disease-defining report.
• Carrier frequency/founder effect/geographic distribution: unknown.
• Consanguinity: present in the reported family.
• Anticipation: not reported and biologically unsupported.
• Germline mosaicism: not reported.
• Ethnicity and population-specific enrichment: insufficiently documented for inference.

The disorder should be labeled ultra-rare with no numerical prevalence estimate, rather than assigning a cases-per-100,000 value. (yang2020mutantcard10in pages 1-2, yang2020mutantcard10in pages 2-3)

10. Diagnostics

Proposed diagnostic approach

There are no standardized criteria. A reasonable evidence-aligned workflow is:

1. Recognize the combination of recurrent infection plus autoimmune/inflammatory or allergic disease, particularly asthma with low eosinophils, Crohn-like inflammation, anemia, urticaria, or unexplained bronchiectasis.
2. Perform complete blood count with differential, blood film and anemia/hemolysis studies; immunoglobulins; vaccine-antibody responses; lymphocyte subsets; monocyte subsets; dendritic-cell phenotyping; autoantibodies; inflammatory markers; and microbiologic evaluation during infection.
3. Assess complications using high-resolution chest CT where bronchiectasis is suspected and endoscopy with biopsy for persistent gastrointestinal symptoms.
4. Use an inborn-error-of-immunity gene panel containing CARD10, or preferably trio/family WES/WGS where the phenotype is atypical. Confirm candidate variants by Sanger sequencing and segregation.
5. Interpret CARD10 variants cautiously with population frequency, conservation, domain location, RNA/protein expression, and ideally patient-cell CBM/NF-κB functional assays. Exome plus Sanger segregation was the successful discovery method in the reported family. (yang2020mutantcard10in pages 1-2, yang2020mutantcard10in pages 2-3)

CMA, karyotype, FISH, mitochondrial testing, and repeat-expansion testing are not first-line for this single-gene phenotype unless another diagnosis is suspected. RNA sequencing could assess transcript abundance or splicing, but is not validated diagnostically. No biomarker has established sensitivity or specificity.

Differential diagnosis

Important differentials include other CBM/NF-κB pathway disorders—CARD11, BCL10, MALT1, CARD9 and CARD14 defects—as well as common variable immunodeficiency, activated PI3K-delta syndrome, CTLA4/LRBA deficiency, STAT3 gain-of-function, NFKB1/NFKB2 deficiency, chronic granulomatous disease, DOCK8 deficiency, autoimmune lymphoproliferative syndromes, monogenic inflammatory bowel disease, cystic fibrosis, primary ciliary dyskinesia, and secondary immunodeficiency. CARD10’s broad nonhematopoietic expression and the combined airway, bowel, myeloid, allergic, and autoimmune phenotype may be distinguishing, but no validated discriminant criteria exist. Recent work also cautions that CARD10 overexpression assays have high basal NF-κB activity and may misclassify variants. (staal2024chimericandmutant pages 1-3, staal2023chimericandmutant pages 11-13)

No newborn, population, or carrier-screening program exists. Once a familial variant is securely classified, targeted cascade, prenatal, or preimplantation testing can be considered with genetic counseling.

11. Outcome and prognosis

There are no survival curves, mortality rates, life-expectancy estimates, or validated prognostic biomarkers. The reported course was chronic and slowly progressive over decades. Documented morbidity included recurrent infection, chronic airway damage, lung abscess, asthma, bowel inflammation, anemia, and allergic disease. (yang2020mutantcard10in pages 2-3)

Potential adverse prognostic factors—based on the two-person report—include earlier onset, greater immune-cell/cytokine impairment, repeated respiratory infection, bronchiectasis, and possibly harmful inhalational exposure. These are hypotheses, not validated predictors. Recovery potential and reversibility are unknown; bronchiectasis is generally irreversible, while infection, asthma, anemia, and bowel inflammation may be controllable with phenotype-directed therapy.

12. Treatment

No CARD10-specific treatment, response rate, adverse-event series, pharmacogenomic recommendation, gene therapy, RNA therapy, or hematopoietic stem-cell transplantation outcome has been reported. No dedicated interventional trial was identified. The primary report did not provide treatment outcomes. (yang2020mutantcard10in pages 2-3)

Management should therefore be individualized in an expert immunology center and may include, by extrapolation:

• prompt culture-guided antimicrobial treatment and consideration of prophylaxis when infection burden warrants it;
• immunoglobulin replacement only if quantitative or functional antibody deficiency is demonstrated;
• airway clearance, vaccination planning, pulmonary surveillance, and standard bronchiectasis care;
• guideline-based asthma treatment, recognizing that eosinophil-low disease may not respond like eosinophilic asthma;
• hematology-directed evaluation and treatment of autoimmune anemia;
• gastroenterology-directed treatment of Crohn-like inflammation, balancing immunosuppression against infection risk;
• antihistamines or other standard therapy for urticaria;
• avoidance of unnecessary broad immunosuppression and multidisciplinary monitoring.

Suggested NCIt intervention annotations include antimicrobial therapy, antimicrobial prophylaxis, immunoglobulin replacement therapy, corticosteroid therapy, bronchodilator therapy, airway-clearance therapy, immunosuppressive therapy, biologic therapy, hematopoietic stem-cell transplantation, genetic counseling, and supportive care. These are ontology mappings, not evidence of CARD10-specific efficacy.

Direct inhibition of CARD10, MALT1, or NF-κB is not rationally established for a variant already associated with reduced CARD10 abundance. Although MALT1 inhibitors are being developed for malignancy and inflammatory indications, pathway inhibition could worsen immunodeficiency. The 2024 MALT1 review underscores that balanced—not simply reduced—CBM signaling is required for immune homeostasis. (moud2024malt1substratecleavage pages 1-2)

13. Prevention

• Primary prevention: no method prevents the phenotype in a person with a pathogenic biallelic genotype. Genetic counseling, carrier testing after familial-variant confirmation, prenatal diagnosis, and preimplantation genetic testing can reduce recurrence risk.
• Secondary prevention: cascade testing of relatives, early immunologic evaluation, infection surveillance, and early chest assessment may identify disease before advanced bronchiectasis.
• Tertiary prevention: vaccination after immunology review, antimicrobial prophylaxis where indicated, airway clearance, avoidance of tobacco and harmful dust exposure, and prompt treatment of infection may reduce complications. Avoid live vaccines when clinically significant cellular immunodeficiency has not been excluded.
• Behavioral/environmental: reducing metal-dust and respiratory irritant exposure is prudent, but CARD10-specific benefit has not been demonstrated.

No public-health screening program or disease-specific prophylaxis guideline exists.

14. Other species and natural disease

No naturally occurring veterinary CARD10 disease equivalent was identified, and there is no evidence of zoonotic transmission. The genetic and signaling mechanism is conserved across vertebrates, but “natural disease” should be recorded as not established.

Relevant experimental taxa include human (Homo sapiens, NCBI Taxon 9606) and laboratory mouse (Mus musculus, NCBI Taxon 10090). Ortholog-specific NCBI Gene identifiers should be imported directly from NCBI rather than inferred from this literature set.

15. Model organisms and experimental systems

Mouse models

Card10-null mice provide partial mechanistic support. In an asthma model, airway eosinophils and type-2 cytokines were reduced, but airway hyperresponsiveness was not correspondingly reduced. Card10-deficient airway epithelial cells had impaired dendritic-cell maturation/antigen-presentation effects. These observations resemble the patients’ asthma with low eosinophils, but do not reproduce the complete human syndrome. (yang2020mutantcard10in pages 1-2, yang2020mutantcard10in pages 2-3)

More recent CARD-CC work reports neurodevelopmental phenotypes in Card10-deficient mice, shared with Bcl10 deficiency, yet comparable neurological abnormalities were not reported in the two human cases. This highlights incomplete cross-species phenotypic concordance. (staal2024chimericandmutant pages 1-3)

Cellular models

• CARD10 silencing in a human cell line and murine primary progenitors impaired granulocytic differentiation and altered genes involved in myeloid development and function. This supports a possible basis for the human myeloid abnormalities. The primary study’s abstract states: “Silencing Card10 in a human cell line and in murine primary cells impaired granulopoiesis.” Shyamsunder et al., published online 17 May 2018, DOI 10.3324/haematol.2018.190280. (shyamsunder2018card10acebpe pages 1-7)
• HEK293T NF-κB reporter systems and engineered CARD9–CARD10 chimeras have been used to test CARD10 autoinhibition and variants. Their limitation is high spontaneous activity from overexpressed native CARD10; effects at endogenous expression remain uncertain. Staal et al., 2024, DOI 10.1111/febs.17035. (staal2024chimericandmutant pages 1-3, staal2023chimericandmutant pages 11-13, staal2024chimericandmutant pages 39-39)
• No patient-derived iPSC, organoid, knock-in p.Arg420Cys mouse, zebrafish, Drosophila, or CRISPR-corrected rescue model was identified.

Recent developments and expert assessment, 2023–2024

The most important recent development is not discovery of additional patients but improved understanding of CARD-CC/CBM signaling and its experimental limitations. The 2024 FEBS study established chimeric systems for testing CARD10 autoinhibition and natural variants, while emphasizing that disease-associated CARD10 variants often remain mechanistically unresolved. It did not independently validate p.Arg420Cys. (staal2024chimericandmutant pages 1-3, staal2024chimericandmutant pages 39-39)

The 28 May 2024 MALT1 review described CBM signalosomes as receptor-to-NF-κB/JNK signaling hubs and emphasized that both inadequate and qualitatively imbalanced MALT1 activity can produce immune pathology. Its abstract states that “balanced MALT1-TRAF6 recruitment and MALT1 substrate cleavage are critical to maintain immune homeostasis and to promote optimal immune activation.” DOI 10.3389/fimmu.2024.1412347. (moud2024malt1substratecleavage pages 1-2)

A 17 January 2023 review of NF-κB-associated inborn errors emphasized that NF-κB acts in both immune and epithelial compartments and regulates epithelial differentiation, survival, and inflammatory amplification. This provides authoritative context for a CARD10 disorder involving immunity, airway disease, bowel inflammation, and skin allergy, but is not independent case evidence. DOI 10.3389/fped.2022.1098426. (shen2023skinmanifestationsof pages 1-2)

Overall evidence-grade conclusion

The association of homozygous CARD10 p.Arg420Cys with immunodeficiency and autoimmunity is biologically plausible and supported by segregation, reduced CARD10 expression, patient immunophenotyping, and relevant model evidence, but remains based on one family. The disease should be represented in a knowledge base with high confidence for the reported phenotype and genotype, but only limited-to-moderate confidence for definitive gene–disease validity and molecular mechanism until unrelated cases, population-frequency analysis, endogenous signaling assays, and variant-specific rescue or knock-in studies become available. (yang2020mutantcard10in pages 1-2, yang2020mutantcard10in pages 2-3, staal2024chimericandmutant pages 1-3)

References

1. (OpenTargets Search: Immunodeficiency 89 with autoimmunity): Open Targets Query (Immunodeficiency 89 with autoimmunity, 11 results). Buniello, A. et al. (2025). Open Targets Platform: facilitating therapeutic hypotheses building in drug discovery. Nucleic Acids Research.

2. (yang2020mutantcard10in pages 1-2): Dan-hui Yang, Ting Guo, Zhuang-zhuang Yuan, Cheng Lei, Shui-zi Ding, Yi-feng Yang, Zhi-ping Tan, and Hong Luo. Mutant card10 in a family with progressive immunodeficiency and autoimmunity. Cellular & Molecular Immunology, 17:782-784, Apr 2020. URL: https://doi.org/10.1038/s41423-020-0423-x, doi:10.1038/s41423-020-0423-x. This article has 9 citations and is from a peer-reviewed journal.

3. (yang2020mutantcard10in pages 2-3): Dan-hui Yang, Ting Guo, Zhuang-zhuang Yuan, Cheng Lei, Shui-zi Ding, Yi-feng Yang, Zhi-ping Tan, and Hong Luo. Mutant card10 in a family with progressive immunodeficiency and autoimmunity. Cellular & Molecular Immunology, 17:782-784, Apr 2020. URL: https://doi.org/10.1038/s41423-020-0423-x, doi:10.1038/s41423-020-0423-x. This article has 9 citations and is from a peer-reviewed journal.

4. (moud2024malt1substratecleavage pages 1-2): Bahareh Nemati Moud, Franziska Ober, Thomas J. O’Neill, and Daniel Krappmann. Malt1 substrate cleavage: what is it good for? Frontiers in Immunology, May 2024. URL: https://doi.org/10.3389/fimmu.2024.1412347, doi:10.3389/fimmu.2024.1412347. This article has 21 citations and is from a peer-reviewed journal.

5. (staal2024chimericandmutant pages 1-3): Jens Staal, Yasmine Driege, Femke Van Gaever, Jill Steels, and Rudi Beyaert. Chimeric and mutant card9 constructs enable analyses of conserved and diverged autoinhibition mechanisms in the card‐cc protein family. Dec 2024. URL: https://doi.org/10.1111/febs.17035, doi:10.1111/febs.17035. This article has 4 citations.

6. (staal2024chimericandmutant pages 39-39): Jens Staal, Yasmine Driege, Femke Van Gaever, Jill Steels, and Rudi Beyaert. Chimeric and mutant card9 constructs enable analyses of conserved and diverged autoinhibition mechanisms in the card‐cc protein family. Dec 2024. URL: https://doi.org/10.1111/febs.17035, doi:10.1111/febs.17035. This article has 4 citations.

7. (shyamsunder2018card10acebpe pages 1-7): Pavithra Shyamsunder, Haresh Sankar, Anand Mayakonda, Lin Han, Hazimah Binte Mohd Nordin, Teoh Weoi Woon, Mahalakshmi Shanmugasundaram, Pushkar Dakle, Vikas Madan, and H. Phillip Koeffler. Card10, a cebpe target involved in granulocytic differentiation. Haematologica, 103:1269-1277, May 2018. URL: https://doi.org/10.3324/haematol.2018.190280, doi:10.3324/haematol.2018.190280. This article has 13 citations.

8. (staal2023chimericandmutant pages 11-13): Jens Staal, Yasmine Driege, Femke Van Gaever, Jill Steels, and Rudi Beyaert. Chimeric and mutant card9 constructs enable analyses of conserved and diverged autoinhibition mechanisms in the card-cc protein family. Mar 2023. URL: https://doi.org/10.1101/2023.03.06.531260, doi:10.1101/2023.03.06.531260. This article has 0 citations.

9. (shen2023skinmanifestationsof pages 1-2): Yitong Shen, Anne P. R. Boulton, Robert L. Yellon, and Matthew C. Cook. Skin manifestations of inborn errors of nf-κb. Frontiers in Pediatrics, Jan 2023. URL: https://doi.org/10.3389/fped.2022.1098426, doi:10.3389/fped.2022.1098426. This article has 24 citations.

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