Severe immunodeficiency in patients treated with fludarabine monophosphate

AbstractWe report five patients with lung disease immuno-deficiency and chromosome breakage syndrome (LICS) but without recurrent infections and severe immunodeficiency. One patient had extended survival to 6.5 years. Hematopoietic stem-cell transplantation failed to cure another patient. Our findings suggest that the immunological abnormalities can be limited and do not fully explain the LICS phenotype.

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Clinical and immunologic outcome of patients with cartilage hair hypoplasia after hematopoietic stem cell transplantation

Blood ◽

10.1182/blood-2010-01-259168 ◽

2010 ◽

Vol 116 (1) ◽

pp. 27-35 ◽

Cited By ~ 41

Author(s):

Victoria Bordon ◽

Andrew R. Gennery ◽

Mary A. Slatter ◽

Els Vandecruys ◽

Genevieve Laureys ◽

...

Keyword(s):

Stem Cell ◽

Hematopoietic Stem Cell Transplantation ◽

Stem Cell Transplantation ◽

Cell Transplantation ◽

Hematopoietic Stem Cell ◽

Clinical Manifestations ◽

Hematopoietic Stem ◽

Cartilage Hair Hypoplasia ◽

Severe Immunodeficiency

Abstract Cartilage-hair hypoplasia (CHH) is a rare autosomal recessive disease caused by mutations in the RMRP gene. Beside dwarfism, CHH has a wide spectrum of clinical manifestations including variable grades of combined immunodeficiency, autoimmune complications, and malignancies. Previous reports in single CHH patients with significant immunodeficiencies have demonstrated that allogeneic hematopoietic stem cell transplantation (HSCT) is an effective treatment for the severe immunodeficiency, while growth failure remains unaffected. Because long-term experience in larger cohorts of CHH patients after HSCT is currently unreported, we performed a European collaborative survey reporting on 16 patients with CHH and immunodeficiency who underwent HSCT. Immune dysregulation, lymphoid malignancy, and autoimmunity were important features in this cohort. Thirteen patients were transplanted in early childhood (∼ 2.5 years). The other 3 patients were transplanted at adolescent age. Of 16 patients, 10 (62.5%) were long-term survivors, with a median follow-up of 7 years. T-lymphocyte numbers and function have normalized, and autoimmunity has resolved in all survivors. HSCT should be considered in CHH patients with severe immunodeficiency/autoimmunity, before the development of severe infections, major organ damage, or malignancy might jeopardize the outcome of HSCT and the quality of life in these patients.

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Decreased Efficacy of Inhaled Pentamidine in the Prevention of Pneumocystis carinii Pneumonia Among HIV-infected Patients With Severe Immunodeficiency

CHEST Journal ◽

10.1378/chest.103.2.342 ◽

1993 ◽

Vol 103 (2) ◽

pp. 342-344 ◽

Cited By ~ 8

Author(s):

Lisa Casale ◽

Howard Gold ◽

Clyde Schechter ◽

Abdollah Naficy ◽

Joseph R. Masci

Keyword(s):

Pneumocystis Carinii Pneumonia ◽

Pneumocystis Carinii ◽

Severe Immunodeficiency

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CRISPR/Cas9-Mediated Deletion of Foxn1 in NOD/SCID/IL2rg−/− Mice Results in Severe Immunodeficiency

Scientific Reports ◽

10.1038/s41598-017-08337-8 ◽

2017 ◽

Vol 7 (1) ◽

Cited By ~ 3

Author(s):

Xinru Wei ◽

Yunxin Lai ◽

Baiheng Li ◽

Le Qin ◽

Youdi Xu ◽

...

Keyword(s):

Severe Immunodeficiency

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Corticosteroid-Responsive Pulmonary Toxicity Associated with Fludarabine Monophosphate: A Case Report

Turkish Journal of Hematology ◽

10.5505/tjh.2012.50490 ◽

2012 ◽

Vol 29 (4) ◽

pp. 392-396 ◽

Cited By ~ 1

Author(s):

Milda Rudzianskiene ◽

Rasa Griniute ◽

Elona Juozaityte ◽

Arturas Inciura ◽

Viktoras Rudzianskas ◽

...

Keyword(s):

Case Report ◽

Pulmonary Toxicity ◽

Fludarabine Monophosphate

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Recognition of Acquired Immune Deficiency Syndrome (AIDS) in Children

Pediatrics in Review ◽

10.1542/pir.7.4.101 ◽

1985 ◽

Vol 7 (4) ◽

pp. 101-107

Author(s):

Arthur J. Ammann ◽

Kevin Shannon

Keyword(s):

Immune Deficiency ◽

Immune Deficiency Syndrome ◽

Acquired Immune Deficiency Syndrome ◽

Deficiency Syndrome ◽

Viral Agent ◽

Number Of Children ◽

The Past ◽

Severe Immunodeficiency ◽

Work Up ◽

Acquired Immune Deficiency

The acquired immune deficiency syndrome (AIDS) has been diagnosed in a substantial number of children during the past 2 years. It is likely that many additional cases will be recognized as the clinical and laboratory features of AIDS become better known. We have emphasized the importance of careful epidemiologic, historical, and laboratory work-up of patients suspected of having AIDS. Management of the complications of severe immunodeficiency remains supportive and primarily involves ensuring adequate nutrition and aggresive treatment of infections. Prophylactic parenteral γ-globulin and oral trimethoprim/sulfamethoxazole may be helpful in reducing the incidence and severity of infections. The recent identification of a viral agent that appears to be the putative cause of AIDS should facilitate measures directed toward identification, prevention, and treatment of this disorder.

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An RTEL1 Mutation Links to Infantile-Onset Ulcerative Colitis and Severe Immunodeficiency

Journal of Clinical Immunology ◽

10.1007/s10875-020-00829-z ◽

2020 ◽

Vol 40 (7) ◽

pp. 1010-1019

Author(s):

Alma Ziv ◽

Lael Werner ◽

Liza Konnikova ◽

Aya Awad ◽

Tim Jeske ◽

...

Keyword(s):

Ulcerative Colitis ◽

Severe Immunodeficiency

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Morphologic and Immunohistochemical Characterization of Spontaneous Lymphoma/Leukemia in NSG Mice

Veterinary Pathology ◽

10.1177/0300985819882631 ◽

2019 ◽

Vol 57 (1) ◽

pp. 160-171 ◽

Cited By ~ 4

Author(s):

Heather Tillman ◽

Laura J. Janke ◽

Amy Funk ◽

Peter Vogel ◽

Jerold E. Rehg

Keyword(s):

T Cell ◽

Core Protein ◽

Laboratory Mouse ◽

Interleukin 2 ◽

Low Frequency ◽

Nsg Mice ◽

Severe Immunodeficiency ◽

Neoplastic Lymphocytes ◽

Strong Immunoreactivity

The NOD.Cg- Prkdcscid Il2rgtm1Wjl/SzJ strain (NOD scid gamma, NSG) is a severely immunodeficient inbred laboratory mouse used for preclinical studies because it is amenable to engraftment with human cells. Combining scid and Il2rgnull mutations results in severe immunodeficiency by impairing the maturation, survival, and functionality of interleukin 2–dependent immune cells, including T, B, and natural killer lymphocytes. While NSG mice are reportedly resistant to developing spontaneous lymphomas/leukemias, there are reports of hematopoietic cancers developing. In this study, we characterized the immunophenotype of spontaneous lymphoma/leukemia in 12 NSG mice (20 to 38 weeks old). The mice had a combination of grossly enlarged thymus, spleen, or lymph nodes and variable histologic involvement of the bone marrow and other tissues. All 12 lymphomas were diffusely CD3, TDT, and CD4 positive, and 11 of 12 were also positive for CD8, which together was consistent with precursor T-cell lymphoblastic lymphoma/leukemia (pre-T-LBL). A subset of NSG tissues from all mice and neoplastic lymphocytes from 8 of 12 cases had strong immunoreactivity for retroviral p30 core protein, suggesting an association with a viral infection. These data highlight that NSG mice may develop T-cell lymphoma at low frequency, necessitating the recognition of this spontaneously arising disease when interpreting studies.

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Fatal Hypogammaglobulinemia 3 Years after Rituximab in a Patient with Immune Thrombocytopenia: An Underlying Genetic Predisposition?

Case Reports in Immunology ◽

10.1155/2019/2543038 ◽

2019 ◽

Vol 2019 ◽

pp. 1-6 ◽

Cited By ~ 1

Author(s):

Jean-François Viallard ◽

Marie Parrens ◽

Frédéric Rieux-Laucat

Keyword(s):

Immune Deficiency ◽

Immune Thrombocytopenia ◽

Fas Ligand ◽

B Cell Lymphoma ◽

Heterozygous Mutation ◽

Primary Immune Deficiency ◽

Missense Mutations ◽

Barr Virus ◽

Severe Immunodeficiency ◽

Epstein Barr

We report the case of a young woman who developed, 3 years after stopping Rituximab (RTX) prescribed for immune thrombocytopenia (ITP), a severe immunodeficiency leading to fatal pulmonary Epstein–Barr virus-positive diffuse large B-cell lymphoma. Genetic analysis led us to identify four missense mutations known to affect immune-deficiency–associated genes (FAS-ligand (FASL) gene (p.G167R); perforin-1 (PRF1 (p.R55C) gene; the Bloom syndrome RecQ-Like helicase (BLM) gene and the Moesin (MSN) (p.A122T) gene). The heterozygous mutation in the FASL gene, not present in the Genome Aggregation Database or ClinVar database, could suggest atypical Autoimmune LymphoProliferative Syndrome and its role in this patient’s immunodepression is discussed. This observation strengthens the role of FASL gene mutation in severe clinical phenotypes of primary immune deficiency and raises new questions about the genetic background of ITP occurring in young people in a context of immunodeficiency.

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