scholarly journals FRI0472 DIAGNOSIS AND MANAGEMENT OF ADENOSINE DEAMINASE 2 DEFICIENCY CHILDREN: THE EXPERIENCE FROM CHINA

2020 ◽  
Vol 79 (Suppl 1) ◽  
pp. 833.1-833
Author(s):  
W. Wang ◽  
T. Zhang ◽  
L. Wang ◽  
H. Song
Keyword(s):  
Enzyme Activity ◽  
Adenosine Deaminase ◽  
Case Reports ◽  
Clinical Manifestations ◽  
Primary Immunodeficiency Disease ◽  
Enzymatic Analysis ◽  
College Hospital ◽  
Hematopoietic Stem ◽  
Medical College ◽  
Adenosine Deaminase 2

Background:Adenosine deaminase 2 deficiency (DADA2) is a rare antoinflammatory disease caused by mutations in ADA2 gene, few Chinese cases have been reported.Objectives:To describe and compare the clinical features, genotypes, and treatments of Chinese DADA2 patients and foreign cases.Methods:Primary immunodeficiency disease Panel or Whole Exome Sequencing was performed to suspected subjects, and assays for adenosine deaminase 2(ADA2) enzyme activity were also carried out to them and their parents. Case reports of Chinese and foreign patients with DADA2 were searched from PubMed and Chinese domestic databases.Results:Seven unrelated DADA2 children from China were included in our study, 5 were identified at Peking union medical college hospital and 2 had been reported previously (1 on PubMed and 1 in Chinese literatures). 14 mutations in ADA2 were identified, and 9 of which have not been found in other countries. Four children receiving enzymatic analysis had lower ADA2 enzyme activity compared to their parents. Phenotypic manifestations included fever, skin symptoms, vasculitis, neurologic involvement, et al. The treatments varying from steroids, immunosuppressants, and tocilizumab, anti-TNF therapy and hematopoietic stem cell transplantation (HSCT) were effective depending on different phenotype and severity.Conclusion:This study includes the biggest number of Chinese DADA2 patients at present. We recommend combination of enzymatic analysis with gene screening to confirm the diagnosis. Genotypes of patients from China were some different, the clinical manifestations were similar. We suggest anti-TNF therapy may not be necessary for mild case and HSCT should be considered even without hematological phenotype.References:[1]Zhou Q, Yang D, Ombrello AK, Zavialov AV, Toro C, Zavialov AV, et al. Early-onset stroke and vasculopathy associated with mutations in ADA2. N Engl J Med. 2014;370:911-920.[2]Meyts I, Aksentijevich I. Deficiency of Adenosine Deaminase 2 (DADA2): Updates on the Phenotype, Genetics, Pathogenesis, and Treatment. J Clin Immunol. 2018;38:569-578.[3]Wang XN, Zhou ZX, Li SN, Lai JM, Su GX, Kang M, et al. A case report of DADA2. Chin J Rheumatol. 2019;23:476-478.[4]Liu L, Wang W, Wang Y, Hou J, Ying W, Hui X, et al. A Chinese DADA2 patient: report of two novel mutations and successful HSCT. Immunogenetics. 2019;71:299-305.Disclosure of Interests:None declared

scholarly journals Diagnosis and management of Adenosine Deaminase 2 Deficiency children: the experience from China

2020 ◽  
Author(s):  
Wei Wang ◽  
Tiannan Zhang ◽  
Wenjie Zheng ◽  
Linqing Zhong ◽  
Lin Wang ◽  
...  
Keyword(s):  
Adenosine Deaminase ◽  
Chinese Literature ◽  
Case Reports ◽  
Primary Immunodeficiency Disease ◽  
Chinese Patients ◽  
Enzymatic Analysis ◽  
College Hospital ◽  
Hematopoietic Stem ◽  
Medical College ◽  
Adenosine Deaminase 2

Abstract BACKGROUND: Deficiency of adenosine deaminase 2 (DADA2) is a rare autoinflammatory disease caused by mutations in the ADA2 gene. Few Chinese cases have been reported. We describe and compare the clinical features, genotypes, and treatments of Chinese DADA2 patients and non-Chinese patients.METHODS: Primary immunodeficiency disease panel or whole-exome sequencing was performed for suspected cases, and assays for adenosine deaminase 2 (ADA2) enzyme activity were also carried out for the patients and their parents. Case reports of Chinese and non-Chinese patients with DADA2 were searched in PubMed and Chinese national databases.RESULTS: Seven unrelated children from China with DADA2 were included in our study. Five were identified at Peking Union Medical College Hospital, and two had been reported previously (1 on PubMed and 1 in Chinese literature). Fourteen mutations in ADA2 were identified, 7 of which have not previously been reported in non-Chinese patients. Four children who underwent enzymatic analysis had lower ADA2 activity compared with their parents. Phenotypic manifestations included fever, skin symptoms, vasculitis, and neurologic involvement. Treatments varying from steroids, immunosuppressants, and tocilizumab, anti-TNF therapy and hematopoietic stem cell transplantation (HSCT) were effective depending on phenotype and severity.CONCLUSION: This study includes the largest number of Chinese DADA2 patients to date. We recommend the combination of enzymatic analysis with gene screening to confirm the diagnosis. Different genotypes were observed among Chinese DADA2 patients; most phenotypes were similar to those of non-Chinese DADA2 patients, except for growth retardation. Disease remission might not be achieved with anti-IL-6 therapy.

scholarly journals Diagnosis and management of adenosine deaminase 2 deficiency children: the experience from China

2021 ◽  
Vol 19 (1) ◽  
Author(s):  
Wei Wang ◽  
Tiannan Zhang ◽  
Wenjie Zheng ◽  
Linqing Zhong ◽  
Lin Wang ◽  
...  
Keyword(s):  
Adenosine Deaminase ◽  
Chinese Literature ◽  
Case Reports ◽  
Primary Immunodeficiency Disease ◽  
Chinese Patients ◽  
Enzymatic Analysis ◽  
College Hospital ◽  
Hematopoietic Stem ◽  
Medical College ◽  
Adenosine Deaminase 2

Abstract Background Deficiency of adenosine deaminase 2 (DADA2) is a rare autoinflammatory disease caused by mutations in the ADA2 gene. Few Chinese cases have been reported. We describe and compare the clinical features, genotypes, and treatments of Chinese DADA2 patients and non-Chinese patients. Methods Primary immunodeficiency disease panel or whole-exome sequencing was performed for suspected cases, and assays for adenosine deaminase 2 (ADA2) enzyme activity were also carried out for the patients and their parents. Case reports of Chinese and non-Chinese patients with DADA2 were searched in PubMed and Chinese national databases. Results Seven unrelated children from China with DADA2 were included in our study. Five were identified at Peking Union Medical College Hospital, and two had been reported previously (1 on PubMed and 1 in Chinese literature). Fourteen mutations in ADA2 were identified, 7 of which have not previously been reported in non-Chinese patients. Four children who underwent enzymatic analysis had lower ADA2 activity compared with their parents. Phenotypic manifestations included fever, skin symptoms, vasculitis, and neurologic involvement. Treatments varying from steroids, immunosuppressants, and tocilizumab, anti-TNF therapy and hematopoietic stem cell transplantation (HSCT) were effective depending on phenotype and severity. Conclusion This study includes the largest number of Chinese DADA2 patients to date. We recommend the combination of enzymatic analysis with gene screening to confirm the diagnosis. Different genotypes were observed among Chinese DADA2 patients; most phenotypes were similar to those of non-Chinese DADA2 patients, except for growth retardation. Disease remission might not be achieved with anti-IL-6 therapy.

scholarly journals Diagnosis and management of Adenosine Deaminase 2 Deficiency children: the experience from China

2020 ◽  
Author(s):  
Wei Wang ◽  
Tiannan Zhang ◽  
Wenjie Zheng ◽  
Linqing Zhong ◽  
Lin Wang ◽  
...  
Keyword(s):  
Adenosine Deaminase ◽  
Chinese Literature ◽  
Case Reports ◽  
Primary Immunodeficiency Disease ◽  
Chinese Patients ◽  
Enzymatic Analysis ◽  
College Hospital ◽  
Hematopoietic Stem ◽  
Medical College ◽  
Adenosine Deaminase 2

Abstract BACKGROUND: Deficiency of adenosine deaminase 2 (DADA2) is a rare autoinflammatory disease caused by mutations in the ADA2 gene. Few Chinese cases have been reported. We describe and compare the clinical features, genotypes, and treatments of Chinese DADA2 patients and non-Chinese patients.METHODS: Primary immunodeficiency disease panel or whole-exome sequencing was performed for suspected cases, and assays for adenosine deaminase 2 (ADA2) enzyme activity were also carried out for the patients and their parents. Case reports of Chinese and non-Chinese patients with DADA2 were searched in PubMed and Chinese national databases.RESULTS: Seven unrelated children from China with DADA2 were included in our study. Five were identified at Peking Union Medical College Hospital, and two had been reported previously (1 on PubMed and 1 in Chinese literature). Fourteen mutations in ADA2 were identified, 7 of which have not previously been reported in non-Chinese patients. Four children who underwent enzymatic analysis had lower ADA2 activity compared with their parents. Phenotypic manifestations included fever, skin symptoms, vasculitis, and neurologic involvement. Treatments varying from steroids, immunosuppressants, and tocilizumab, anti-TNF therapy and hematopoietic stem cell transplantation (HSCT) were effective depending on phenotype and severity.CONCLUSION: This study includes the largest number of Chinese DADA2 patients to date. We recommend the combination of enzymatic analysis with gene screening to confirm the diagnosis. Different genotypes were observed among Chinese DADA2 patients; most phenotypes were similar to those of non-Chinese DADA2 patients, except for growth retardation. Disease remission might not be achieved with anti-IL-6 therapy.

A Monogenic Disease with a Variety of Phenotypes: Deficiency of Adenosine Deaminase 2

2019 ◽  
Vol 47 (1) ◽  
pp. 117-125 ◽  
Author(s):  
Seza Özen ◽  
Ezgi Deniz Batu ◽  
Ekim Z. Taşkıran ◽  
Hatice Asuman Özkara ◽  
Şule Ünal ◽  
...  
Keyword(s):  
Enzyme Activity ◽  
Adenosine Deaminase ◽  
Catalytic Domain ◽  
Monogenic Disease ◽  
Dimerization Domain ◽  
Hematopoietic Stem ◽  
Significant Difference ◽  
Adenosine Deaminase 2 ◽  
Group 2 ◽  
Group 1

Objective.Deficiency of adenosine deaminase 2 (DADA2) is an autosomal recessive autoinflammatory disorder associated with ADA2 mutations. We aimed to investigate the characteristics and ADA2 enzyme activities of patients with DADA2 compared to non-DADA2 patients.Methods.This is a descriptive study of 24 patients with DADA2 who were admitted to the Adult and Pediatric Rheumatology, Pediatric Haematology, and Pediatric Immunology Departments of Hacettepe University. All ADA2 exons were screened by Sanger sequencing. Serum ADA2 enzyme activity was measured by modified spectrophotometric method.Results.Twenty-four patients with DADA2 were included: 14 with polyarteritis nodosa (PAN)-like phenotype (Group 1); 9 with Diamond-Blackfan anemia (DBA)-like features, and 1 with immunodeficiency (Group 2). Fourteen PAN-like DADA2 patients did not have the typical thrombocytosis seen in classic PAN. Inflammatory attacks were evident only in Group 1 patients. Serum ADA2 activity was low in all patients with DADA2 except one, who was tested after hematopoietic stem cell transplantation. There was no significant difference in ADA2 activities between PAN-like and DBA-like patients. In DADA2 patients with one ADA2 mutation, serum ADA2 activities were as low as those of patients with homozygote DADA2. ADA2 activities were normal in non-DADA2 patients. ADA2 mutations were affecting the dimerization domain in Group 1 patients and the catalytic domain in Group 2 patients.Conclusion.We suggest assessing ADA2 activity along with genetic analysis because there are patients with one ADA2 mutation and absent enzyme activity. Our data suggest a possible genotype–phenotype correlation in which dimerization domain mutations are associated with PAN-like phenotype, and catalytic domain mutations are associated with hematological manifestations.

scholarly journals Lentiviral correction of enzymatic activity restrains macrophage inflammation in adenosine deaminase 2 deficiency

2021 ◽  
Vol 5 (16) ◽  
pp. 3174-3187
Author(s):  
Matteo Zoccolillo ◽  
Immacolata Brigida ◽  
Federica Barzaghi ◽  
Serena Scala ◽  
Raisa Jofra Hernández ◽  
...  
Keyword(s):  
Gene Therapy ◽  
Enzymatic Activity ◽  
Adenosine Deaminase ◽  
Systemic Inflammation ◽  
Lentiviral Vector ◽  
Clinical Manifestations ◽  
Hematopoietic Stem ◽  
Functional Correction ◽  
Adenosine Deaminase 2

Abstract Adenosine deaminase 2 deficiency (DADA2) is a rare inherited disorder that is caused by autosomal recessive mutations in the ADA2 gene. Clinical manifestations include early-onset lacunar strokes, vasculitis/vasculopathy, systemic inflammation, immunodeficiency, and hematologic defects. Anti–tumor necrosis factor therapy reduces strokes and systemic inflammation. Allogeneic hematopoietic stem/progenitor cell (HSPC) transplantation can ameliorate most disease manifestations, but patients are at risk for complications. Autologous HSPC gene therapy may be an alternative curative option for patients with DADA2. We designed a lentiviral vector encoding ADA2 (LV-ADA2) to genetically correct HSPCs. Lentiviral transduction allowed efficient delivery of the functional ADA2 enzyme into HSPCs from healthy donors. Supranormal ADA2 expression in human and mouse HSPCs did not affect their multipotency and engraftment potential in vivo. The LV-ADA2 induced stable ADA2 expression and corrected the enzymatic defect in HSPCs derived from DADA2 patients. Patients’ HSPCs re-expressing ADA2 retained their potential to differentiate into erythroid and myeloid cells. Delivery of ADA2 enzymatic activity in patients’ macrophages led to a complete rescue of the exaggerated inflammatory cytokine production. Our data indicate that HSPCs ectopically expressing ADA2 retain their multipotent differentiation ability, leading to functional correction of macrophage defects. Altogether, these findings support the implementation of HSPC gene therapy for DADA2.

scholarly journals Primary Retroperitoneal Ganglioneuroma: A Retrospective Cohort Study of 32 Patients

2021 ◽  
Vol 8 ◽  
Author(s):  
Jianchun Xiao ◽  
Zixuan Zhao ◽  
Binglu Li ◽  
Taiping Zhang
Keyword(s):  
Growth Pattern ◽  
Clinical Manifestations ◽  
Incomplete Resection ◽  
Radiological Imaging ◽  
College Hospital ◽  
Laboratory Findings ◽  
Female Ratio ◽  
Medical College ◽  
The Mean ◽  
The Masses

Purpose: To investigate the clinical characteristics, diagnosis, differential diagnosis, therapy options, and outcomes of retroperitoneal ganglioneuroma.Methods: In this retrospective study, we collected and analyzed the clinical data of 32 patients diagnosed with retroperitoneal ganglioneuroma and admitted to Peking Union Medical College Hospital from October 2012 to August 2019.Results: Among our 32 cases with retroperitoneal ganglioneuroma, the male-to-female ratio was 1:3 and the mean age was 35. Only 25% of the cases presented with abdominal pain while more than 65% had no specific symptoms. The masses could be found through physical examination in only five patients. Most of the tumors are located near the renal area. They were usually single and displayed an embedded growth pattern with diameters <10 cm, clear borders, and soft texture. For radiological imaging, the majority of tumors demonstrated soft tissue density with mild-to-moderate enhancement on CT imaging and showed hypoecho with moderate blood flow signals in ultrasound. No significantly abnormal laboratory examinations were found in most patients. Of all the 32 patients, 2 chose surveillance after biopsy due to difficulties in operation, while others chose surgical resection. The mean follow-up time was 15.8 months among 26 patients. The tumor remained stable in the surveillance cases. Residual tumors were found in four cases receiving operations with no progress and discomfort. No recurrence was seen in all patients.Conclusions: The retroperitoneal ganglioneuroma is a benign tumor without specific clinical manifestations or significant laboratory findings. Typically, it is shown as low density with a clear border and an embedded growth pattern in radiological imaging. The overall prognosis is good. Surgery is an effective approach with possible severe complications. Incomplete resection or surveillance can be considered for some cases where complete resection is difficult to achieve.

scholarly journals Electrocardiographic abnormalities in severe anaemia and its reversibility after correction of anaemia

2020 ◽  
Vol 7 (10) ◽  
pp. 1566
Author(s):  
S. M. Biradar ◽  
Renuka Holiyachi ◽  
Mohd Shannawaz ◽  
V. Ravi Teja
Keyword(s):  
Clinical Manifestations ◽  
Severe Anaemia ◽  
Ecg Changes ◽  
College Hospital ◽  
Medical College ◽  
Wave Inversion ◽  
Pre Treatment ◽  
Organic Heart Disease ◽  
Hb Concentration ◽  
Ecg Abnormalities

Background: Anaemia is one of the commonest clinical problems in our country. It affects various organs including the heart. Clinical manifestations of anaemia referable to cardiovascular system may closely simulate symptoms and signs of organic heart disease. It includes some electrocardiogram (ECG) changes also. ECG changes in anaemia show correlation to haemoglobin (Hb) concentration and the changes are reversible after correction of anaemia. In this study, the main objective was to study electrocardiographic changes in patients with severe anaemia and ECG reversibility after treatment of anaemia.Methods: 50 patients admitted in medicine wards of Shri B. M. Patil Medical College, Hospital and Research Center, Vijayapura for severe anaemia (Hb concentration less than or equal to 7 gm %) were studied for ECG changes. All patients were reassessed for reversibility of changes after treatment.Results: Out of 50 patients with severe anaemia, 20 patients were having Hb % of 3 to 5 gm %. Of which 16 patients were having ECG changes (10 were females and 6 were males). All ECG changes were reverted to normal after correction of anaemia, except one patient (showed pre-treatment T wave inversion and post-treatment flat T waves).Conclusions: ECG abnormalities in patients with severe anaemia are more common in females. ECG abnormalities in patients with severe anaemia (Hb 5 gm %) can get reverted to normal after correction of anaemia.

scholarly journals Case Report: Deficiency of Adenosine Deaminase 2 Presenting With Overlapping Features of Autoimmune Lymphoproliferative Syndrome and Bone Marrow Failure

2021 ◽  
Vol 12 ◽  
Author(s):  
Gianluca Dell’Orso ◽  
Alice Grossi ◽  
Federica Penco ◽  
Roberta Caorsi ◽  
Elena Palmisani ◽  
...  
Keyword(s):  
Bone Marrow ◽  
Adenosine Deaminase ◽  
Bone Marrow Failure ◽  
Genetic Diagnosis ◽  
Functional Study ◽  
Sequencing Analysis ◽  
Autoimmune Lymphoproliferative Syndrome ◽  
Hematopoietic Stem ◽  
Lymphoproliferative Syndrome ◽  
Adenosine Deaminase 2

Deficiency of adenosine deaminase 2 (DADA2) is an autosomal recessive disease associated with a highly variable clinical presentation, such as vasculitis, inflammation, and hematologic manifestations. Some associations of clinical features can mimic autoimmune lymphoproliferative syndrome (ALPS). We report a case of a female patient who fulfilled the 2009 National Institute of Health revised criteria for ALPS and received a delayed diagnosis of DADA2. During her childhood, she suffered from autoimmune hemolytic anemia, immune thrombocytopenia, and chronic lymphoproliferation, which partially responded to multiple lines of treatments and were followed, at 25 years of age, by pulmonary embolism, septic shock, and bone marrow failure with myelodysplastic evolution. The patient died from the progression of pulmonary disease and multiorgan failure. Two previously unreported variants of gene ADA2/CECR1 were found through next-generation sequencing analysis, and a pathogenic role was demonstrated through a functional study. A single somatic STAT3 mutation was also found. Clinical phenotypes encompassing immune dysregulation and marrow failure should be evaluated at the early stage of diagnostic work-up with an extended molecular evaluation. A correct genetic diagnosis may lead to a precision medicine approach consisting of the use of targeted treatments or early hematopoietic stem cell transplantation.

scholarly journals Adenosine Deaminase 2 Deficiency As a Cause of Pure Red Cell Aplasia Mimicking Diamond Blackfan Anemia

Blood ◽  
2015 ◽  
Vol 126 (23) ◽  
pp. 3615-3615 ◽  
Author(s):  
Ghadir S. Sasa ◽  
M. Tarek Elghetany ◽  
Katie Bergstrom ◽  
Sarah Nicholas ◽  
Ryan Himes ◽  
...  
Keyword(s):  
Bone Marrow ◽  
Adenosine Deaminase ◽  
Pure Red Cell Aplasia ◽  
Red Cell ◽  
Hematopoietic Stem ◽  
Diamond Blackfan Anemia ◽  
Red Cell Aplasia ◽  
Ebv Reactivation ◽  
Adenosine Deaminase 2 ◽  
Red Cell Transfusion

Abstract Diamond Blackfan anemia (DBA) is an inherited pure red cell aplasia. Most cases present in the first year of life with elevation in erythrocyte adenosine deaminase (eADA) and frequently with increased mean corpuscular volume (MCV) and hemoglobin F (hgb F). Approximately 70 percent of cases are due to a mutation in one of several ribosomal protein (RP) genes or in GATA1, whereas the remaining cases are genetically uncharacterized. Here we report a child born with severe anemia and diagnosed with DBA at 2 months of age. His bone marrow was normocellular with a paucity of erythroid progenitors and scattered lymphocytes. An eADA level was not obtained prior to the first red cell transfusion. He was red cell transfusion dependent and his anemia did not respond to a steroid trial. His 4 year old sister, who had normal hemoglobin, MCV, hgb F, and eADA measurements, served as his HLA identical donor for hematopoietic stem cell transplantation (HSCT). HSCT resulted in 100% donor chimerism, but red cell engraftment was not achieved. He subsequently underwent a mismatched unrelated HSCT with trilineage engraftment. Ten years later, at the age of 14 years, the sister presented with profound hypoproductive normocytic anemia. The bone marrow showed absence of erythroid precursors and presence of lymphoid aggregates. Findings of immunodeficiency included numerous cutaneous warts, recurrent aphthous ulcers, Epstein Barr virus (EBV) reactivation, low IgM, and low numbers and percentages of CD19+ and CD3-56+16+ lymphocytes. The anemia and reticulocytopenia persisted despite resolution of EBV reactivation. Upon her presentation, levels of iron, ferritin, transferrin saturation, and liver transaminases were elevated. A liver biopsy obtained after transfusion of a total of 60 ml/kg packed red blood cells demonstrated 4.8 mg Fe/g dry liver weight with stage 2 portal fibrosis. Targeted DNA sequencing studies performed on the affected sister were negative for single nucleotide variants in any of 12 RP genes previously implicated in DBA and a genome wide chromosome microarray was normal. Whole exome analysis of her and her parents demonstrated that she carried compound heterozygous variants in CECR1 (cat eye syndrome chromosome region, candidate 1). The variant p.R169Q had been previously reported as pathogenic, while the p.G358R variant was of uncertain significance. These variants are present at frequencies of 4.9X10-4 and 2.6X10-5 in the Exome Aggregation Consortium database, respectively. Analysis of buccal swab DNA of the proband showed the same biallelic variants. An unaffected 16-year-old sibling had a normal genotype. CECR1 encodes adenosine deaminase 2 (ADA2) and ADA2 levels in the plasma of the affected sister were markedly low, consistent with a deficiency state. CECR1 is highly expressed in cells of myeloid origin and ADA2 is a secreted protein implicated in macrophage differentiation and proliferation. Deficiency of ADA2 (DADA2) results in aberrant monocyte differentiation favoring M1 over M2 macrophages, thereby resulting in a proinflammatory state. Recent descriptions of patients with DADA2 due to CECR1 mutations reported a spectrum of phenotypes including intermittent fevers, lacunar stroke in childhood, livedoid rash, polyarteritis nodosa, and immunodeficiency with B lymphopenia and low IgM levels. Our cases are similar to the report of one of two brothers, homozygous for CECR1 p.R169Q, described by van Montfrans, et al,. (NEJM, 2014). The eldest was given a diagnosis of atypical DBA (refractory pure red cell aplasia) in infancy and underwent a HSCT from his asymptomatic, HLA identical brother. This HSCT resulted in non-engraftment, necessitating a subsequent unrelated donor HSCT. The younger sibling donor later developed hepatosplenomegaly, profound lymphopenia, and evidence of an inflammatory state. Together, these three cases support pure red cell aplasia as a presentation of DADA2 and that this may be confused with DBA, particularly when manifest in infancy. We propose DADA2 should be considered in patients with genetically uncharacterized DBA. Differentiating features to suggest DADA2 may include normal eADA, MCV, and hgb F levels and findings of associated immunodeficiency. Additionally, the macrophage activation due to DADA2 may have played a role in the iron overload observed in our second patient prior to any red cell transfusion. Disclosures No relevant conflicts of interest to declare.

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