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Rare immune deficiencies

The rare immune deficiencies section publishes research and reports on clinical and laboratory data pertaining to immunological disease, with an emphasis on primary immunodeficiency. Whilst welcoming any submission in this broad area, cohort reports of specific genetic diseases, detailed case reports of very rare primary immunodeficiencies, reports elucidating gene function, reports from geographic areas less represented in literature, and reports describing therapy are encouraged.

  1. Autoantibodies against C1-inhibitor (C1-INH-Ab) have a diagnostic value in acquired angioedema due to C1-inhibitor deficiency (C1-INH-AAE), even though antibodies can circulate in complexes, which can be undet...

    Authors: Zsofia Polai, Erika Kajdacsi, Laszlo Cervenak, Zsuzsanna Balla, Szabolcs Benedek, Lilian Varga and Henriette Farkas
    Citation: Orphanet Journal of Rare Diseases 2023 18:24
    Content type: Research Published on:

  2. Hereditary angioedema (HAE) is a rare autosomal dominant genetic disease characterized by repetitive subcutaneous or submucosal angioedema, activation of the kinin system, and increased vascular permeability. ...

    Authors: Yinshi Guo, Huanping Zhang, He Lai, Huiying Wang, Herberto J. Chong-Neto, Solange O. R. Valle and Rongfei Zhu
    Citation: Orphanet Journal of Rare Diseases 2022 17:399
    Content type: Review Published on:

  3. Severe combined immunodeficiency (SCID) is a group of rare genetic disorders that cause disruption in immune system functioning. Parents of children with SCID experience many uncertainties related to their chi...

    Authors: Oksana Kutsa, Sara M. Andrews, Erin Mallonee, Angela Gwaltney, Alissa Creamer, Paul K. J. Han, Melissa Raspa and Barbara B. Biesecker
    Citation: Orphanet Journal of Rare Diseases 2022 17:390
    Content type: Research Published on:

  5. DNA repair deficiency disorders are rare inherited diseases arising from pathogenic (disease-causing) variants in genes involved in DNA repair. There are no standardized diagnostic assays for the investigation...

    Authors: Ola Hammarsten, Anna Lyytikäinen, Sofia Thunström, Torben Ek, Anders Fasth, Olov Ekwall, Sara Cajander, Emilie Wahren Borgström, C. I. Edvard Smith and Pegah Johansson
    Citation: Orphanet Journal of Rare Diseases 2022 17:50
    Content type: Research Published on:

  6. The “Primary Immunodeficiencies (PIDs) principles of care” were published in 2014 as the gold standard for care of patients with PIDs, setting a common goal for stakeholders to ensure that patients with PID ha...

    Authors: Leire Solís, Julia Nordin, Johan Prevot, Nizar Mahlaoui, Silvia Sánchez-Ramón, Adli Ali, Elodie Cassignol, John W. Seymour and Martine Pergent
    Citation: Orphanet Journal of Rare Diseases 2022 17:11
    Content type: Research Published on:

  7. Patients with predominantly (primary) antibody deficiencies (PADs) commonly develop recurrent respiratory infections which can lead to bronchiectasis, long-term morbidity and increased mortality. Recognizing s...

    Authors: Lisanne M. A. Janssen, Kim van den Akker, Mohamed A. Boussihmad and Esther de Vries
    Citation: Orphanet Journal of Rare Diseases 2021 16:289
    Content type: Research Published on:

  8. Ataxia-Telangiectasia (A-T) is a multi-system disorder that may be associated with endocrine changes, oxidative stress in addition to inflammation. Studies suggest that selenium is a trace element related to p...

    Authors: Itana Gomes Alves Andrade, Fabíola Isabel Suano-Souza, Fernando Luiz Affonso Fonseca, Carolina Sanchez Aranda Lago and Roseli Oselka Saccardo Sarni
    Citation: Orphanet Journal of Rare Diseases 2021 16:83
    Content type: Research Published on:

  9. STAT3 hyper-IgE syndrome (STAT3-HIES) is a rare primary immunodeficiency that clinically overlaps with atopic dermatitis. In addition to eczema, elevated serum-IgE, and recurrent infections, STAT3-HIES patient...

    Authors: Iris Meixner, Beate Hagl, Carolin I. Kröner, Benedikt D. Spielberger, Ekaterini Paschos, Gregor Dückers, Tim Niehues, Ronny Hesse and Ellen D. Renner
    Citation: Orphanet Journal of Rare Diseases 2020 15:244
    Content type: Research Published on:

  10. DNA Ligase IV (LIG4) syndrome is a rare disease with few reports to date. Patients suffer from a broad spectrum of clinical features, including microcephaly, growth retardation, developmental delay, dysmorphic...

    Authors: Bijun Sun, Qiuyu Chen, Ying Wang, Danru Liu, Jia Hou, Wenjie Wang, Wenjing Ying, Xiaoying Hui, Qinhua Zhou, Jinqiao Sun and Xiaochuan Wang
    Citation: Orphanet Journal of Rare Diseases 2020 15:131
    Content type: Research Published on:

  11. Evidence supports that hereditary angioedema (HAE) may be considered as a paroxysmal permeability disorder with defective but self-limiting endothelial barrier dysfunction. A potential subclinical abnormal vas...

    Authors: Paola Triggianese, Massimo Cesareo, Maria Domenica Guarino, Paola Conigliaro, Maria Sole Chimenti, Francesca Cedola, Caterina Mazzeo, Carlo Nucci and Roberto Perricone
    Citation: Orphanet Journal of Rare Diseases 2020 15:20
    Content type: Letter to the Editor Published on:

  12. Differentiation between pancreatic cancer (PC) and focal form of autoimmune pancreatitis (AIP) is very challenging, with similar clinical presentations, laboratory results and morphologic imagings of US, CT, E...

    Authors: Gaopeng Li, Ting Liu, Jian Zheng, Wenqin Kang, Jun Xu, Zefeng Gao and Jinfeng Ma
    Citation: Orphanet Journal of Rare Diseases 2019 14:245
    Content type: Research Published on:

  13. Chediak-Higashi Disease (CHD) is a rare autosomal disorder, purported to have cognitive and neurological impairments. Prior descriptions of cognitive impairment, however, are solely based on subjective, unstru...

    Authors: Talia N. Shirazi, Joseph Snow, Lillian Ham, Greta B. Raglan, Edythe A. Wiggs, Angela C. Summers, Camilo Toro and Wendy J. Introne
    Citation: Orphanet Journal of Rare Diseases 2019 14:101
    Content type: Research Published on:

  14. Mosaic variegated aneuploidy (MVA) syndrome is a chromosomal instability disorder that leads to aneuploidies of different chromosomes in various tissues. Type 1 MVA (MVA1) is caused by mutations in the budding...

    Authors: Alexandra Laberko, Dmitry Balashov, Elena Deripapa, Olga Soldatkina, Elena Raikina, Alexei Maschan, Galina Novichkova and Anna Shcherbina
    Citation: Orphanet Journal of Rare Diseases 2019 14:97
    Content type: Research Published on:

  15. Hereditary angioedema with C1-inhibitor deficiency (C1-INH-HAE) is characterized by localized, non-pitting, and transient swelling of submucosal or subcutaneous region. Human fetuin-A is a multifunctional glyc...

    Authors: Bernadett Márkus, Nóra Veszeli, György Temesszentandrási, Henriette Farkas and László Kalabay
    Citation: Orphanet Journal of Rare Diseases 2019 14:67
    Content type: Research Published on:

  16. Acquired angioedema due to C1-inhibitor (C1-INH) deficiency (AAE-C1-INH) is a serious condition that may result in life-threatening asphyxiation due to laryngeal edema. It is associated with malignant B-cell l...

    Authors: Konrad Bork, Petra Staubach-Renz and Jochen Hardt
    Citation: Orphanet Journal of Rare Diseases 2019 14:65
    Content type: Research Published on:

  17. Warts Hypogammaglobulinemia Immunodeficiency Myelokathexis (WHIM) syndrome is a primary immunodeficiency characterized by recurrent bacterial infections, severe chronic neutropenia, with lymphopenia, monocytop...

    Authors: Jessica Galli, Lorenzo Pinelli, Serena Micheletti, Giovanni Palumbo, Lucia Dora Notarangelo, Vassilios Lougaris, Laura Dotta, Elisa Fazzi and Raffaele Badolato
    Citation: Orphanet Journal of Rare Diseases 2019 14:61
    Content type: Research Published on:

  18. Common variable immunodeficiency disorders (CVID) are a group of rare innate disorders characterized by specific antibody deficiency and increased rates of infections, comorbidities and mortality. The burden o...

    Authors: Irina Odnoletkova, Gerhard Kindle, Isabella Quinti, Bodo Grimbacher, Viviane Knerr, Benjamin Gathmann, Stephan Ehl, Nizar Mahlaoui, Philippe Van Wilder, Kris Bogaerts and Esther de Vries
    Citation: Orphanet Journal of Rare Diseases 2018 13:201
    Content type: Research Published on:

  20. Vitamin A intoxication is a rare cause of liver disease, but the risk increases in patients with underlying liver dysfunction. We present a patient with Shwachman-Diamond Syndrome who developed liver fibrosis,...

    Authors: Giorgia Bucciol, David Cassiman, Tania Roskams, Marleen Renard, Ilse Hoffman, Peter Witters, Rik Schrijvers, Heidi Schaballie, Barbara Bosch, Maria Caterina Putti, Olivier Gheysens, Noel Knops, Marc Gewillig, Djalila Mekahli, Jacques Pirenne and Isabelle Meyts
    Citation: Orphanet Journal of Rare Diseases 2018 13:69
    Content type: Letter to the Editor Published on:

  21. Adenosine deaminase (ADA) deficiency leads to an accumulation of toxic purine degradation by-products, most potently affecting lymphocytes, leading to adenosine deaminase-deficient severe combined immunodefici...

    Authors: Aisling M. Flinn and Andrew R. Gennery
    Citation: Orphanet Journal of Rare Diseases 2018 13:65
    Content type: Review Published on:

  22. Strimvelis (autologous CD34+ cells transduced to express adenosine deaminase [ADA]) is the first ex vivo stem cell gene therapy approved by the European Medicines Agency (EMA), indicated as a single treatment ...

    Authors: Heide Stirnadel-Farrant, Mahesh Kudari, Nadia Garman, Jessica Imrie, Bikramjit Chopra, Stefania Giannelli, Michela Gabaldo, Ambra Corti, Stefano Zancan, Alessandro Aiuti, Maria Pia Cicalese, Rohit Batta, Jonathan Appleby, Mario Davinelli and Pauline Ng
    Citation: Orphanet Journal of Rare Diseases 2018 13:49
    Content type: Research Published on:

  23. Ataxia telangiectasia (A-T) is a neurodegenerative disease that leads to mitochondrial dysfunction and oxidative stress. Insulin resistance (IR), type 2 diabetes and the risk for development of cardiovascular ...

    Authors: Talita Lemos Paulino, Marina Neto Rafael, Sonia Hix, David Carlos Shigueoka, Sergio Aron Ajzen, Cristiane Kochi, Fabíola Isabel Suano-Souza, Rosangela da Silva, Beatriz T. Costa-Carvalho and Roseli O. S. Sarni
    Citation: Orphanet Journal of Rare Diseases 2017 12:136
    Content type: Research Published on:

  24. Lipopolysaccharide-responsive, beige-like anchor protein (LRBA) deficiency is characterized by primary immunodeficiency and autoimmunity. Cancer may present another feature of LRBA deficiency. We describe a ca...

    Authors: Nina Bratanič, Jernej Kovač, Katka Pohar, Katarina Trebušak Podkrajšek, Alojz Ihan, Tadej Battelino and Magdalena Avbelj Stefanija
    Citation: Orphanet Journal of Rare Diseases 2017 12:131
    Content type: Research Published on:

  25. Nude severe combined immunodeficiency is a rare inherited disease caused by autosomal recessive loss-of-function mutations in FOXN1. This gene encodes a transcription factor essential for the development of the t...

    Authors: Ioanna A. Rota and Fatima Dhalla
    Citation: Orphanet Journal of Rare Diseases 2017 12:6
    Content type: Review Published on:

  26. Hereditary angioedema caused by C1-inhibitor deficiency (C1-INH-HAE) is a rare, autosomal dominant disorder. C1-INH-HAE is characterized by edema–formation, which may occur in response to stress. The individua...

    Authors: Zsuzsanna Zotter, Zsolt Nagy, Attila Patócs, Dorottya Csuka, Nóra Veszeli, Kinga Viktória Kőhalmi and Henriette Farkas
    Citation: Orphanet Journal of Rare Diseases 2017 12:5
    Content type: Research Published on:

  27. DNA ligase IV deficiency is a rare primary immunodeficiency, LIG4 syndrome, often associated with other systemic features. DNA ligase IV is part of the non-homologous end joining mechanism, required to repair ...

    Authors: Thomas Altmann and Andrew R. Gennery
    Citation: Orphanet Journal of Rare Diseases 2016 11:137
    Content type: Review Published on:

  28. Patients with syndromic features frequently suffer from recurrent respiratory infections, but little is known about the spectrum of immunological abnormalities associated with their underlying chromosomal aber...

    Authors: Ellen Schatorjé, Michiel van der Flier, Mikko Seppänen, Michael Browning, Megan Morsheimer, Stefanie Henriet, João Farela Neves, Donald Cuong Vinh, Laia Alsina, Anete Grumach, Pere Soler-Palacin, Thomas Boyce, Fatih Celmeli, Ekaterini Goudouris, Grant Hayman, Richard Herriot…
    Citation: Orphanet Journal of Rare Diseases 2016 11:110
    Content type: Research Published on:

  29. IgG replacement therapy (IgRT) in primary immunodeficiencies (PID) is a lifelong treatment which may be administered intravenously (IVIg) or subcutaneously (SCIg), at hospital or at home. The objective of the ...

    Authors: B. Bienvenu, G. Cozon, C. Hoarau, M. Pasquet, P. Cherin, P. Clerson, E. Hachulla, J. C. Crave, J. C. Delain and R. Jaussaud
    Citation: Orphanet Journal of Rare Diseases 2016 11:83
    Content type: Research Published on:

  30. Deficiency of the eighth component of complement (C8) is a very rare primary immunodeficiency, associated with invasive, recurrent infections mainly caused by Neisseria species. We report functional and immuno...

    Authors: Rosa Maria Dellepiane, Laura Dell’Era, Paola Pavesi, Paolo Macor, Mara Giordano, Luca De Maso, Maria Cristina Pietrogrande and Massimo Cugno
    Citation: Orphanet Journal of Rare Diseases 2016 11:64
    Content type: Research Published on:

  31. The 17-alpha-alkylated derivatives of testosterone are often used for the prevention of oedematous episodes in hereditary angioedema with C1-inhibitor deficiency (C1-INH-HAE). However, these agents can have ma...

    Authors: Kinga Viktória Kőhalmi, Nóra Veszeli, Zsuzsanna Zotter, Dorottya Csuka, Szabolcs Benedek, Éva Imreh, Lilian Varga and Henriette Farkas
    Citation: Orphanet Journal of Rare Diseases 2016 11:18
    Content type: Research Published on:

  32. Allogeneic hematopoietic stem cell transplantation (HSCT) is the only curative treatment available for severe combined immunodeficiency (SCID); although, there is a high incidence of severe infections and an i...

    Authors: Nicholas Brodszki, Dominik Turkiewicz, Jacek Toporski, Lennart Truedsson and Josefina Dykes
    Citation: Orphanet Journal of Rare Diseases 2016 11:5
    Content type: Research Published on:

  33. Adenosine deaminase-deficient severe combined immunodeficiency (ADA-SCID) is characterized by impaired T-, B- and NK-cell function. Affected children, in addition to early onset of infections, manifest non-imm...

    Authors: Hirsh D. Komarow, Robert Sokolic, Michael S. Hershfield, Donald B. Kohn, Michael Young, Dean D. Metcalfe and Fabio Candotti
    Citation: Orphanet Journal of Rare Diseases 2015 10:159
    Content type: Letter to the Editor Published on:

  34. Earlier studies have shown that the absolute number of neutrophil granulocytes (NGs) may increase during attack of hereditary angioedema due to C1-inhibitor deficiency (C1-INH-HAE). Whether NGs undergo activat...

    Authors: Nóra Veszeli, Dorottya Csuka, Zsuzsanna Zotter, Éva Imreh, Mihály Józsi, Szabolcs Benedek, Lilian Varga and Henriette Farkas
    Citation: Orphanet Journal of Rare Diseases 2015 10:156
    Content type: Research Published on:

  35. Ataxia-telangiectasia (A-T) is a devastating human autosomal recessive disorder that causes progressive cerebellar ataxia, immunodeficiency, premature aging, chromosomal instability and increased cancer risk. ...

    Authors: H. Pommerening, S. van Dullemen, M. Kieslich, R. Schubert, S. Zielen and S. Voss
    Citation: Orphanet Journal of Rare Diseases 2015 10:155
    Content type: Research Published on:

  36. Chediak-Higashi Syndrome (CHS) is a rare autosomal recessive disease characterized by immunodeficiency, oculocutaneous albinism, neurological dysfunction, and early death. Individuals with CHS present with inc...

    Authors: Le Wang, Kamila Rosamilia Kantovitz, Andrew Robert Cullinane, Francisco Humberto Nociti, Brian Lee Foster, Joseph Concepcion Roney, Anne Bich Tran, Wendy Jewell Introne and Martha Joan Somerman
    Citation: Orphanet Journal of Rare Diseases 2014 9:212
    Content type: Research Published on:

  37. Danazol, a drug extensively used in the management of hereditary angioedema due to C1 inhibitor deficiency (C1-INH-HAE), has various side effects. This study investigated the virilizing actions of this drug in...

    Authors: Zsuzsanna Zotter, Nóra Veszeli, Dorottya Csuka, Lilian Varga and Henriette Farkas
    Citation: Orphanet Journal of Rare Diseases 2014 9:205
    Content type: Research Published on:

  38. Loss-of-function point mutations in the cathepsin C gene are the underlying genetic event in patients with Papillon-Lefèvre syndrome (PLS). PLS neutrophils lack serine protease activity essential for cathelici...

    Authors: Sigrun Eick, Magdalena Puklo, Karina Adamowicz, Tomasz Kantyka, Pieter Hiemstra, Henning Stennicke, Arndt Guentsch, Beate Schacher, Peter Eickholz and Jan Potempa
    Citation: Orphanet Journal of Rare Diseases 2014 9:148
    Content type: Research Published on:

Orphanet Journal of Rare Diseases

ISSN: 1750-1172