Inherited Aplastic Anemia

1. Disease Information

1.1 Concise overview

Inherited aplastic anemia refers to bone marrow failure due to germline (inherited or de novo) variants in genes essential for hematopoietic stem/progenitor cell (HSPC) maintenance. IBMFS are described as “heterogenous” germline disorders characterized by bone marrow failure, often syndrome-specific organ involvement, and usually predisposition to malignancy. (gutierrezrodrigues2023whentoconsider pages 1-2)

1.2 Key identifiers and controlled vocabulary

Ontology / classification items retrievable in-tool: - ICD-11 (WHO) context: Fanconi anemia appears in the ICD-11 Foundation with entity URI http://id.who.int/icd/entity/1500851497 and is placed under the broader MMS linearization label “congenital aplastic anemia (3A70.0)” in one example mapping. (chute2018therenderingof pages 2-4) - MeSH-style identifiers (example from ClinicalTrials.gov record used for terminology mapping): - D000741: Anemia, Aplastic - D000080983: Bone Marrow Failure Disorders (NCT07102849 chunk 2)

Identifiers not fully retrievable with current evidence: MONDO IDs for the umbrella phenotype, Orphanet (ORPHA) codes, and OMIM series entries for all subtypes were not captured by the retrieved texts in this run. This is a limitation of the current tool retrieval set (see “Evidence gaps”). (chute2018therenderingof pages 2-4, NCT07102849 chunk 2)

1.3 Synonyms and alternative names

• Inherited bone marrow failure syndromes (IBMFS) (gutierrezrodrigues2023whentoconsider pages 1-2)
• Congenital marrow failure / congenital aplastic anemia (ICD-11 context) (chute2018therenderingof pages 2-4)
• Telomere biology disorders (TBD) / dyskeratosis congenita spectrum (niewisch2023clinicalmanifestationsof pages 1-1)

1.4 Evidence source type

Most disease-level information here is derived from aggregated disease resources/reviews/consensus-type articles and registry/cohort analyses (e.g., ASH Education Program review, EBMT registry analysis). (gutierrezrodrigues2023whentoconsider pages 1-2, pagliuca2023currentuseof pages 5-9)

2. Etiology

2.1 Disease causal factors (primary)

Inherited aplastic anemia arises from pathogenic germline variants across several mechanistic classes: 1. DNA damage response/repair defects (canonical example: Fanconi anemia) (kawashima2023themolecularand pages 1-2, kawashima2023themolecularand pages 2-4) 2. Telomere maintenance defects (telomere biology disorders / dyskeratosis congenita spectrum) (niewisch2023clinicalmanifestationsof pages 1-1, niewisch2019anupdateon pages 19-24) 3. Ribosome biogenesis/structure defects (e.g., Diamond–Blackfan anemia) (kawashima2023themolecularand pages 1-2, rakotopare2023p53inthe pages 11-12) 4. Other germline predisposition syndromes with marrow failure (e.g., GATA2 deficiency; SAMD9/SAMD9L-related conditions) (gutierrezrodrigues2023whentoconsider pages 4-6, rudelius2023theinternationalconsensus pages 7-9)

2.2 Risk factors

Genetic risk factors (examples; non-exhaustive): - TBD genes found commonly in adult telomere-length screening cohorts include TERC, TERT, RTEL1, CTC1, NHP2, DKC1, USB1. In one prospective adult study, the most frequent pathogenic/likely pathogenic (P/LP) variants were in TERC (9) and TERT (4), with additional P/LP findings in RTEL1 and NHP2. (tometten2023identificationofadult pages 4-6) - In “acquired” aplastic anemia populations, germline variants (including in TERT/TERC) may confer predisposition; a 2024 review summarizes that ~5%–30% of young AA patients may carry IBMFS-associated germline variants. (wang2024germlinevariantsin pages 1-2)

Environmental/triggering factors: For the inherited syndromes, environmental factors are generally not primary “causes,” but exogenous stresses (e.g., genotoxic stress) can interact with underlying defects to exacerbate HSPC loss, and infection/inflammation can be important triggers for progression in predisposition states. (rakotopare2023p53inthe pages 11-12, kawashima2023themolecularand pages 2-4)

2.3 Protective factors

No specific protective germline or environmental factors were identified in the retrieved evidence. This is an evidence gap for this run.

2.4 Gene–environment interactions

The retrieved evidence supports a framework in which external stresses and inflammatory stimuli interact with underlying germline defects to influence marrow failure severity and clonal evolution (e.g., via p53 activation and cytokine-mediated suppression), but the reportable details are largely mechanistic rather than quantitative GxE effect sizes. (kawashima2023themolecularand pages 2-4, rakotopare2023p53inthe pages 11-12)

3. Phenotypes

3.1 Core phenotype (hematologic)

• Cytopenias that can be mono-, bi-, or trilineage, often with hypocellular marrow in many IBMFS presentations. (kawashima2023themolecularand pages 1-2, gutierrezrodrigues2023whentoconsider pages 4-6)
• In adults, distinguishing inherited from immune marrow failure may be challenging when presentation is atypical or cryptic. (gutierrezrodrigues2023whentoconsider pages 1-2)

Suggested HPO terms (examples; not exhaustive): - Pancytopenia (HP:0001876) - Aplastic anemia (HP:0001915) - Bone marrow hypocellularity (HP:0005528) - Macrocytosis (HP:0002151) (noted as a predictor/feature in inherited contexts) (gutierrezrodrigues2023whentoconsider pages 2-3)

3.2 Syndromic/extra-hematologic phenotypes that raise suspicion

From adult diagnostic guidance, syndrome clues include: - Fanconi anemia: limb and renal abnormalities (gutierrezrodrigues2023whentoconsider pages 1-2) - Telomere biology disorders: pulmonary and liver disease; adults may present with isolated pulmonary/liver/hematologic disease and may lack classic mucocutaneous findings (niewisch2023clinicalmanifestationsof pages 1-1, gutierrezrodrigues2023whentoconsider pages 1-2) - GATA2 deficiency: recurrent atypical infections (gutierrezrodrigues2023whentoconsider pages 1-2) - Shwachman–Diamond syndrome: pancreatic insufficiency (noted as targeted testing trigger) (gutierrezrodrigues2023whentoconsider pages 2-3)

Suggested HPO terms (examples): - Pulmonary fibrosis (HP:0002206) - Hepatic fibrosis/cirrhosis (HP:0001395) - Recurrent infections (HP:0002719) - Exocrine pancreatic insufficiency (HP:0001738)

3.3 Natural history and progression (selected quantitative data)

• Fanconi anemia (FA): reported bone marrow failure cumulative incidence 18–83% (risk-group dependent); AML cumulative incidence 15–20% by age 40; MDS cumulative incidence 40% by age 50; markedly elevated relative risks versus general population; high-risk FA subgroup FANCD1/BRCA2 shows AML cumulative incidence 80% by age 10. (rudelius2023theinternationalconsensus pages 7-9)
• Shwachman–Diamond syndrome (SDS): registry data suggest ~1% per year progression with cumulative MDS/AML risk ~36% by age 30; another summary notes ~20% clonal/myeloid evolution by age 18. (rudelius2023theinternationalconsensus pages 7-9)
• Severe congenital neutropenia (SCN): median MDS/AML incidence ~21% at 15 years after starting G-CSF. (rudelius2023theinternationalconsensus pages 7-9)
• Dyskeratosis congenita / TBD: NCI cohort (n=197) cited cumulative leukemia incidence 2% by age 50 and solid cancer 11% by age 50. (rudelius2023theinternationalconsensus pages 7-9)
• SAMD9/SAMD9L: germline mutations noted in up to ~18% of non-FA suspected inherited marrow failure cases, often linked to monosomy 7 and MDS/AML progression. (rudelius2023theinternationalconsensus pages 7-9)

3.4 Quality of life impact

No disease-specific QoL instruments or quantitative QoL outcomes were present in the retrieved evidence. This is an evidence gap for this run.

4. Genetic/Molecular Information

4.1 Causal genes and inheritance patterns (high-level)

Inherited marrow failure can be autosomal recessive, autosomal dominant, X-linked, or de novo; autosomal dominant conditions often exhibit variable penetrance and later onset, complicating family-history-based screening. (gutierrezrodrigues2023whentoconsider pages 2-3)

Key gene groups and representative genes (examples drawn from retrieved evidence): - Telomerase/shelterin/telomere replication: TERC, TERT, RTEL1, CTC1, NHP2, DKC1, USB1 (tometten2023identificationofadult pages 4-6) - DNA repair/FA pathway: multiple FANC genes; also BRCA2/FANCD1 high-risk subgroup (rudelius2023theinternationalconsensus pages 7-9) - SAMD9/SAMD9L (gain-of-function; monosomy 7-associated “rescue” events) (rudelius2023theinternationalconsensus pages 7-9) - GATA2 (immunodeficiency/infection-associated marrow failure spectrum) (gutierrezrodrigues2023whentoconsider pages 1-2)

4.2 Pathogenic variants and variant interpretation

• A practical adult workflow emphasizes combining functional assays plus germline genetic testing, and careful interpretation of variant allele frequency (VAF) in blood because somatic genetic rescue and clonal hematopoiesis can confound germline inference. Cultured skin fibroblasts are preferred germline tissue controls; buccal swabs are not recommended. (gutierrezrodrigues2023whentoconsider pages 6-7)
• In one adult TL-screening protocol, germline-calling cutoffs included VAF >30% (with absolute read thresholds) and ACMG-based variant classification. (tometten2023identificationofadult pages 2-3)

4.3 Modifier genes / epigenetics

Not specifically retrievable in the current evidence set.

5. Environmental Information

This category is generally secondary for inherited etiologies. The retrieved evidence emphasizes that cellular stresses (oxidative stress, UPR, mitochondrial dysfunction) and inflammatory milieu can modulate outcomes and clonal progression in IBMFS. (kawashima2023themolecularand pages 2-4, kawashima2023themolecularand pages 4-6)

6. Mechanism / Pathophysiology

6.1 Unifying causal chain (current understanding)

A convergent model across IBMFS: 1. Primary germline defect (DNA repair, ribosome biogenesis, telomere maintenance) 2. → Cellular stress (DNA damage, telomere attrition, ribosomal stress, oxidative stress) 3. → TP53 (p53) activation with growth arrest/senescence and apoptosis in HSC/HSPC compartments 4. → Cytopenias and marrow failure, with inflammatory cytokines further suppressing hematopoiesis 5. → Clonal selection/evolution under stress and inflammation, increasing risk of MDS/AML and other cancers

This is explicitly proposed as an overarching hypothesis for IBMFS with p53-dependent growth arrest/apoptosis of hematopoietic stem/progenitor/precursor cells. (kawashima2023themolecularand pages 1-2)

6.2 Inflammation and cytokines

A 2023 mechanistic review proposes a pathogenic role for pro-inflammatory cytokines in cytopenias and clonal evolution, explicitly naming TGF-β, IL-1β, and IFN-α as mediators and noting broader inflammatory signatures including IL-6, IL-8, IP-10/CXCL10, IFN-γ, TNF-α, among others, within SASP-like responses. (kawashima2023themolecularand pages 1-2, kawashima2023themolecularand pages 2-4)

6.3 p53 circuitry and cross-syndrome overlap

p53 activation can repress additional telomere- and DNA repair–related genes via promoter binding and DREAM complex-mediated repression, potentially creating positive feedback loops that blur phenotypes across distinct IBMFS categories. (rakotopare2023p53inthe pages 1-2)

6.4 Suggested ontology terms (mechanisms)

GO Biological Process (examples): - DNA damage response (GO:0006974) - Regulation of cell cycle arrest (GO:0071156) - Apoptotic process (GO:0006915) - Cellular senescence (GO:0090398) - Inflammatory response (GO:0006954)

Cell Ontology (CL) terms (examples): - Hematopoietic stem cell (CL:0000037) - Hematopoietic progenitor cell (CL:0008001) - T cell (CL:0000084) (immune injury context when distinguishing acquired AA vs inherited; see diagnostics) (gutierrezrodrigues2023whentoconsider pages 1-2)

7. Anatomical Structures Affected

7.1 Primary site

• Bone marrow hematopoietic compartment (UBERON:0002371; conceptual mapping) with primary injury/exhaustion in HSC/HSPC populations. (kawashima2023themolecularand pages 1-2, rakotopare2023p53inthe pages 11-12)

7.2 Multi-organ involvement (not uniform; syndrome-dependent)

• Telomere biology disorders: lung and liver involvement common and may dominate adult phenotypes (niewisch2023clinicalmanifestationsof pages 1-1)

8. Temporal Development

• Onset can be neonatal/infancy (e.g., DBA/SCN), childhood (e.g., FA/DC), or adult (cryptic TBD, adult-onset IBMFS) depending on genetic architecture and penetrance. (kawashima2023themolecularand pages 1-2, niewisch2023clinicalmanifestationsof pages 1-1)
• Adult-onset TBD/IBMFS can be “cryptic” with limited organ involvement; incomplete penetrance, variable expressivity, and anticipation complicate recognition. (niewisch2023clinicalmanifestationsof pages 1-1)

9. Inheritance and Population

9.1 Epidemiology (selected, from retrieved evidence)

A 2023 mechanistic review tabulated estimated incidence per 1,000,000 births/year: - Fanconi anemia 11.4 - Dyskeratosis congenita/telomere disorders 3.8 - Diamond–Blackfan anemia 10.4 - Shwachman–Diamond syndrome 8.5 - Severe congenital neutropenia 4.7 (kawashima2023themolecularand pages 1-2)

9.2 Inheritance patterns

IBMFS can be autosomal recessive, autosomal dominant, X-linked, or de novo; AR tends to earlier onset with higher penetrance, AD tends to later onset with variable penetrance. (gutierrezrodrigues2023whentoconsider pages 2-3)

9.3 How often “acquired” AA hides inherited causes

• In an adult-focused ASH Education review, most BMF is classified as immune (>90%), but a CIBMTR retrospective series found ~7% of presumed immune severe aplastic anemia had an undiagnosed IBMFS (about one-third adults). (gutierrezrodrigues2023whentoconsider pages 1-2)
• For adult telomere screening: in the AA/PNH referral category, P/LP TBD variants were found in 3/38 (7.9%) NGS-screened individuals (selected after TL filtering). (tometten2023identificationofadult pages 3-4)
• A 2024 TBD review states: “approximately 10% of adult patients with clinical BMF” may have a congenital TBD origin, highlighting counseling and donor-selection implications. (rolles2024inheritedtelomerebiology pages 1-2)

10. Diagnostics

10.1 Diagnostic principles

A widely endorsed approach is functional (disease-specific) assays plus germline genetic testing for all new bone marrow failure patients, including adults, because immune aplastic anemia is a diagnosis of exclusion and inherited disorders may be cryptic. (gutierrezrodrigues2023whentoconsider pages 1-2, gutierrezrodrigues2023whentoconsider pages 6-7)

10.2 Specialized assays (high-yield)

Key functional tests and interpretation notes are summarized in the table below.

Table: This table condenses the most actionable concepts for inherited aplastic anemia/inherited bone marrow failure syndromes: umbrella definition, specialized diagnostic assays, and key recent quantitative outcome data. It is useful as a quick-reference summary for knowledge-base curation and clinical differentiation from acquired/immune aplastic anemia.

10.3 Visual evidence: diagnostic algorithm

A diagnostic algorithm for specialized work-up of confirmed bone marrow failure (including chromosome fragility testing and flow-FISH telomere length) is available as Figure 2 in Gutierrez-Rodrigues et al. (ASH Education Program 2023). (gutierrezrodrigues2023whentoconsider media 4ef49e0b)

10.4 Differentiating inherited from immune/acquired AA

Markers that support immune/acquired AA rather than IBMFS include: - PNH clones (GPI-negative cells) (gutierrezrodrigues2023whentoconsider pages 1-2, wang2024germlinevariantsin pages 2-4) - 6p CN-LOH/6pLOH (HLA-region immune escape) reported with very high PPV for acquired AA in one review summary (wang2024germlinevariantsin pages 2-4)

11. Outcome/Prognosis

Prognosis is syndrome- and treatment-dependent, with major determinants including transplant candidacy, organ involvement (TBD), and clonal evolution risk.

Selected quantitative outcomes (therapy-related): - In inherited BMF patients treated with androgens (EBMT cohort), 5-year overall survival 78% but failure-free survival 14%, reflecting limited durability of androgen monotherapy in many inherited cases; 5-year cumulative incidence of AML/MDS clonal evolution 8%. (pagliuca2023currentuseof pages 5-9)

12. Treatment

12.1 Curative therapy: hematopoietic cell transplantation (HCT)

In adult telomere biology disorders, “The only curative option for TBD-related lung, bone marrow, or hepatic disease is organ transplant.” (niewisch2023clinicalmanifestationsof pages 8-9)

Clinical application: accurate inherited diagnosis is critical for: - transplant timing, - reduced-intensity conditioning selection in susceptible syndromes, - and related-donor selection to avoid donor carriers (explicitly emphasized for congenital TBD origin in adult BMF). (rolles2024inheritedtelomerebiology pages 1-2)

12.2 Androgens (real-world implementation)

EBMT/European registry evidence (inherited BMF subgroup): - Early responses at 3 months: complete remission 8%, partial remission 29%. (pagliuca2023currentuseof pages 1-2) - 5-year outcomes: OS 78%, failure-free survival 14%, transplant-free survival 17%. (pagliuca2023currentuseof pages 5-9)

Telomere disease (danazol prospective trial summary as cited in androgen review): - Danazol 800 mg/day: hematologic response 19/24 (79%) at 3 months; “All evaluable 12 patients had a gain in telomere length at 24 months as compared with baseline.” (nassani2023theroleof pages 4-5)

Expert synthesis: an androgen-focused editorial notes that androgens can be considered in inherited cases as a bridge to transplant or when transplant is not possible, but toxicities can be substantial and careful selection is required. (calado2023bonemarrowfailure pages 1-3)

12.3 Emerging/experimental therapies

Clinical translation emphasis in the retrieved evidence includes gene therapy/editing broadly for inherited hematologic disease, but inherited aplastic anemia–specific gene therapy trial evidence was not retrieved as primary outcomes in this run (evidence gap). (No tool-retrieved primary trial outcome papers specific to IBMFS gene therapy were available in the current evidence set.)

12.4 Clinical trials and real-world research infrastructure

An example of an active observational programmatic study in marrow failure is: - NCT07102849 “Molecular and Clinical Analysis of Bone Marrow Failure: A Secondary Research Study” (NIH NHLBI), including MeSH-style controlled vocabulary entries (e.g., D000741 Anemia, Aplastic; D000080983 Bone Marrow Failure Disorders). (NCT07102849 chunk 2)

13. Prevention

Primary prevention of inherited aplastic anemia is not generally feasible because etiology is germline; prevention focuses on: - genetic counseling, cascade testing in families, - avoidance of ineffective or harmful therapies (e.g., misapplied immunosuppression in IBMFS), - surveillance for malignancies and organ complications in specific syndromes.

The importance of recognition in adults is highlighted by the estimate that ~10% of adult clinical BMF may have a congenital TBD origin, affecting counseling and donor selection. (rolles2024inheritedtelomerebiology pages 1-2)

14. Other Species / Natural Disease

No naturally occurring non-human disease analogs were retrieved in this run.

15. Model Organisms

The retrieved evidence provides limited, indirect model-organism detail: - Mouse models with constitutively increased p53 activity have been reported to exhibit features of dyskeratosis congenita in the p53/BMFS mechanistic literature, supporting a p53-mediated causal chain, but explicit model descriptions and identifiers were not retrieved here. (rakotopare2023p53inthe pages 1-2)

Recent developments (2023–2024 highlights prioritized)

1. Adult IBMFS diagnostic emphasis: ASH Education Program 2023 advocates routine consideration of inherited etiologies in adults and a combined functional + genetic approach, including interpretation pitfalls from somatic rescue and tissue selection for germline confirmation. (gutierrezrodrigues2023whentoconsider pages 1-2, gutierrezrodrigues2023whentoconsider pages 6-7)
2. Quantitative androgen real-world outcomes: EBMT registry analysis (2023) provides large-cohort response and survival estimates for inherited BMF treated with androgens, enabling benchmarking. (pagliuca2023currentuseof pages 5-9, pagliuca2023currentuseof pages 1-2)
3. Adult telomere screening yields: prospective flow-FISH TL screening with age-modified criteria demonstrates actionable yield of P/LP variants in telomere genes (TERC/TERT dominant), and clarifies referral thresholds and gene distributions. (tometten2023identificationofadult pages 1-2, tometten2023identificationofadult pages 4-6)
4. Mechanistic consolidation around p53 + inflammatory cytokines: 2023 mechanistic reviews synthesize gene-category convergence on TP53 and cytokine/SASP-mediated marrow suppression and leukemogenesis. (kawashima2023themolecularand pages 1-2, kawashima2023themolecularand pages 2-4)

Evidence gaps and limitations of this tool run

• Comprehensive mapping to OMIM IDs, Orphanet ORPHA codes, and MONDO IDs for each specific inherited aplastic anemia entity was not fully retrievable from the obtained texts. (chute2018therenderingof pages 2-4)
• Variant-level details such as ClinVar accessions, gnomAD allele frequencies, and specific recurrent pathogenic variants were not available in the retrieved evidence.
• Detailed QoL metrics, comprehensive HPO frequency tables, and robust model organism resources were not retrieved.

Key primary/authoritative sources cited (with publication dates and URLs where available)

• Gutierrez-Rodrigues F, Patel BA, Groarke EM. When to consider inherited marrow failure syndromes in adults. Hematology ASH Education Program. Dec 2023. https://doi.org/10.1182/hematology.2023000488 (gutierrezrodrigues2023whentoconsider pages 1-2, gutierrezrodrigues2023whentoconsider pages 4-6, gutierrezrodrigues2023whentoconsider pages 6-7)
• Wang P et al. Germline variants in acquired aplastic anemia: current knowledge and future perspectives. Haematologica. Jul 2024. https://doi.org/10.3324/haematol.2023.284312 (wang2024germlinevariantsin pages 1-2, wang2024germlinevariantsin pages 2-4)
• Pagliuca S et al. Current use of androgens in bone marrow failure disorders (EBMT). Haematologica. May 2023. https://doi.org/10.3324/haematol.2023.282935 (pagliuca2023currentuseof pages 5-9, pagliuca2023currentuseof pages 1-2)
• Tometten M et al. Identification of adult patients with classical DC or cryptic TBD by TL screening. HemaSphere. Apr 2023. https://doi.org/10.1097/hs9.0000000000000874 (tometten2023identificationofadult pages 1-2, tometten2023identificationofadult pages 3-4)
• Rolles B et al. Inherited Telomere Biology Disorders: Pathophysiology, Clinical Presentation, Diagnostics, and Treatment. Transfus Med Hemother. Jul 2024. https://doi.org/10.1159/000540109 (rolles2024inheritedtelomerebiology pages 1-2)
• Rudelius M et al. ICC of hematologic neoplasms with germline predisposition… Virchows Arch. Nov 2023. https://doi.org/10.1007/s00428-022-03447-9 (rudelius2023theinternationalconsensus pages 7-9)
• Kawashima N et al. IBMFS mechanisms: role of inflammatory cytokines. Biomolecules. Aug 2023. https://doi.org/10.3390/biom13081249 (kawashima2023themolecularand pages 2-4, kawashima2023themolecularand pages 1-2)
• Rakotopare J, Toledo F. p53 in the molecular circuitry of BMFS. Int J Mol Sci. Oct 2023. https://doi.org/10.3390/ijms241914940 (rakotopare2023p53inthe pages 1-2)
• Chute CG. Rare diseases in ICD-11 (Fanconi anemia mapping example). J Inherit Metab Dis. Mar 2018. https://doi.org/10.1007/s10545-018-0172-5 (chute2018therenderingof pages 2-4)

References

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2. (gutierrezrodrigues2023whentoconsider pages 4-6): Fernanda Gutierrez-Rodrigues, Bhavisha A. Patel, and Emma M. Groarke. When to consider inherited marrow failure syndromes in adults. Hematology. American Society of Hematology. Education Program, 2023 1:548-555, Dec 2023. URL: https://doi.org/10.1182/hematology.2023000488, doi:10.1182/hematology.2023000488. This article has 12 citations.

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4. (NCT07102849 chunk 2): Molecular and Clinical Analysis of Bone Marrow Failure: A Secondary Research Study. National Heart, Lung, and Blood Institute (NHLBI). 2025. ClinicalTrials.gov Identifier: NCT07102849

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14. (gutierrezrodrigues2023whentoconsider pages 2-3): Fernanda Gutierrez-Rodrigues, Bhavisha A. Patel, and Emma M. Groarke. When to consider inherited marrow failure syndromes in adults. Hematology. American Society of Hematology. Education Program, 2023 1:548-555, Dec 2023. URL: https://doi.org/10.1182/hematology.2023000488, doi:10.1182/hematology.2023000488. This article has 12 citations.

15. (gutierrezrodrigues2023whentoconsider pages 6-7): Fernanda Gutierrez-Rodrigues, Bhavisha A. Patel, and Emma M. Groarke. When to consider inherited marrow failure syndromes in adults. Hematology. American Society of Hematology. Education Program, 2023 1:548-555, Dec 2023. URL: https://doi.org/10.1182/hematology.2023000488, doi:10.1182/hematology.2023000488. This article has 12 citations.

16. (tometten2023identificationofadult pages 2-3): Mareike Tometten, Martin Kirschner, Robert Meyer, Matthias Begemann, Insa Halfmeyer, Margherita Vieri, Kim Kricheldorf, Angela Maurer, Uwe Platzbecker, Markus Radsak, Philippe Schafhausen, Selim Corbacioglu, Britta Höchsmann, C. Matthias Wilk, Claas Hinze, Jörg Chromik, Michael Heuser, Michael Kreuter, Steffen Koschmieder, Jens Peter Panse, Susanne Isfort, Ingo Kurth, Tim Henrik Brümmendorf, and Fabian Beier. Identification of adult patients with classical dyskeratosis congenita or cryptic telomere biology disorder by telomere length screening using age-modified criteria. HemaSphere, Apr 2023. URL: https://doi.org/10.1097/hs9.0000000000000874, doi:10.1097/hs9.0000000000000874. This article has 23 citations and is from a peer-reviewed journal.

17. (kawashima2023themolecularand pages 4-6): Nozomu Kawashima, Valentino Bezzerri, and Seth J. Corey. The molecular and genetic mechanisms of inherited bone marrow failure syndromes: the role of inflammatory cytokines in their pathogenesis. Biomolecules, 13:1249, Aug 2023. URL: https://doi.org/10.3390/biom13081249, doi:10.3390/biom13081249. This article has 13 citations.

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19. (tometten2023identificationofadult pages 3-4): Mareike Tometten, Martin Kirschner, Robert Meyer, Matthias Begemann, Insa Halfmeyer, Margherita Vieri, Kim Kricheldorf, Angela Maurer, Uwe Platzbecker, Markus Radsak, Philippe Schafhausen, Selim Corbacioglu, Britta Höchsmann, C. Matthias Wilk, Claas Hinze, Jörg Chromik, Michael Heuser, Michael Kreuter, Steffen Koschmieder, Jens Peter Panse, Susanne Isfort, Ingo Kurth, Tim Henrik Brümmendorf, and Fabian Beier. Identification of adult patients with classical dyskeratosis congenita or cryptic telomere biology disorder by telomere length screening using age-modified criteria. HemaSphere, Apr 2023. URL: https://doi.org/10.1097/hs9.0000000000000874, doi:10.1097/hs9.0000000000000874. This article has 23 citations and is from a peer-reviewed journal.

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22. (gutierrezrodrigues2023whentoconsider pages 3-4): Fernanda Gutierrez-Rodrigues, Bhavisha A. Patel, and Emma M. Groarke. When to consider inherited marrow failure syndromes in adults. Hematology. American Society of Hematology. Education Program, 2023 1:548-555, Dec 2023. URL: https://doi.org/10.1182/hematology.2023000488, doi:10.1182/hematology.2023000488. This article has 12 citations.

23. (pagliuca2023currentuseof pages 1-2): Simona Pagliuca, Austin G. Kulasekararaj, Dirk-Jan Eikema, Brian Piepenbroek, Raheel Iftikhar, Tariq Mahmood Satti, Morag Griffin, Marica Laurino, Alphan Kupesiz, Yves Bertrand, Bruno Fattizzo, Ibrahim Yakoub-Agha, Mahmoud Aljurf, Paola Corti, Erika Massaccesi, Bruno Lioure, Marisa Calabuig, Matthias Klammer, Emel Unal, Depei Wu, Patrice Chevallier, Edouard Forcade, John A. Snowden, Hakan Ozdogu, Antonio Risitano, and Régis Peffault De Latour. Current use of androgens in bone marrow failure disorders: a report from the severe aplastic anemia working party of the european society for blood and marrow transplantation. Haematologica, 109:765-776, May 2023. URL: https://doi.org/10.3324/haematol.2023.282935, doi:10.3324/haematol.2023.282935. This article has 18 citations.

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25. (nassani2023theroleof pages 4-5): Momen Nassani, Riad El Fakih, Jakob Passweg, Simone Cesaro, Hazzaa Alzahrani, Ali Alahmari, Carmem Bonfim, Raheel Iftikhar, Amal Albeihany, Constantijn Halkes, Syed Osman Ahmed, Carlo Dufour, and Mahmoud Aljurf. The role of androgen therapy in acquired aplastic anemia and other bone marrow failure syndromes. Frontiers in Oncology, May 2023. URL: https://doi.org/10.3389/fonc.2023.1135160, doi:10.3389/fonc.2023.1135160. This article has 18 citations.

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27. (gutierrezrodrigues2023whentoconsider media 4ef49e0b): Fernanda Gutierrez-Rodrigues, Bhavisha A. Patel, and Emma M. Groarke. When to consider inherited marrow failure syndromes in adults. Hematology. American Society of Hematology. Education Program, 2023 1:548-555, Dec 2023. URL: https://doi.org/10.1182/hematology.2023000488, doi:10.1182/hematology.2023000488. This article has 12 citations.

28. (niewisch2023clinicalmanifestationsof pages 8-9): Marena R. Niewisch, Fabian Beier, and Sharon A. Savage. Clinical manifestations of telomere biology disorders in adults. Hematology. American Society of Hematology. Education Program, 2023 1:563-572, Dec 2023. URL: https://doi.org/10.1182/hematology.2023000490, doi:10.1182/hematology.2023000490. This article has 38 citations.

29. (tometten2023identificationofadult pages 1-2): Mareike Tometten, Martin Kirschner, Robert Meyer, Matthias Begemann, Insa Halfmeyer, Margherita Vieri, Kim Kricheldorf, Angela Maurer, Uwe Platzbecker, Markus Radsak, Philippe Schafhausen, Selim Corbacioglu, Britta Höchsmann, C. Matthias Wilk, Claas Hinze, Jörg Chromik, Michael Heuser, Michael Kreuter, Steffen Koschmieder, Jens Peter Panse, Susanne Isfort, Ingo Kurth, Tim Henrik Brümmendorf, and Fabian Beier. Identification of adult patients with classical dyskeratosis congenita or cryptic telomere biology disorder by telomere length screening using age-modified criteria. HemaSphere, Apr 2023. URL: https://doi.org/10.1097/hs9.0000000000000874, doi:10.1097/hs9.0000000000000874. This article has 23 citations and is from a peer-reviewed journal.