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. Research

    Is age a risk factor for liver disease and metabolic alterations in ataxia Telangiectasia patients?

    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 ...

    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

    Orphanet Journal of Rare Diseases 2017 12:136

    Published on: 4 August 2017

  2. Research

    Multifocal gastric adenocarcinoma in a patient with LRBA deficiency

    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...

    Nina Bratanič, Jernej Kovač, Katka Pohar, Katarina Trebušak Podkrajšek, Alojz Ihan, Tadej Battelino and Magdalena Avbelj Stefanija

    Orphanet Journal of Rare Diseases 2017 12:131

    Published on: 18 July 2017

  3. Review

    FOXN1 deficient nude severe combined immunodeficiency

    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...

    Ioanna A. Rota and Fatima Dhalla

    Orphanet Journal of Rare Diseases 2017 12:6

    Published on: 11 January 2017

  4. Research

    Glucocorticoid receptor gene polymorphisms in hereditary angioedema with C1-inhibitor deficiency

    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...

    Zsuzsanna Zotter, Zsolt Nagy, Attila Patócs, Dorottya Csuka, Nóra Veszeli, Kinga Viktória Kőhalmi and Henriette Farkas

    Orphanet Journal of Rare Diseases 2017 12:5

    Published on: 10 January 2017

  5. Review

    DNA ligase IV syndrome; a review

    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 ...

    Thomas Altmann and Andrew R. Gennery

    Orphanet Journal of Rare Diseases 2016 11:137

    Published on: 7 October 2016

  6. Research

    Primary immunodeficiency associated with chromosomal aberration – an ESID survey

    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...

    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…

    Orphanet Journal of Rare Diseases 2016 11:110

    Published on: 2 August 2016

  7. Research

    Does the route of immunoglobin replacement therapy impact quality of life and satisfaction in patients with primary immunodeficiency? Insights from the French cohort “Visages”

    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 ...

    B. Bienvenu, G. Cozon, C. Hoarau, M. Pasquet, P. Cherin, P. Clerson, E. Hachulla, J. C. Crave, J. C. Delain and R. Jaussaud

    Orphanet Journal of Rare Diseases 2016 11:83

    Published on: 22 June 2016

  8. Research

    Invasive meningococcal disease in three siblings with hereditary deficiency of the 8th component of complement: evidence for the importance of an early diagnosis

    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...

    Rosa Maria Dellepiane, Laura Dell’Era, Paola Pavesi, Paolo Macor, Mara Giordano, Luca De Maso, Maria Cristina Pietrogrande and Massimo Cugno

    Orphanet Journal of Rare Diseases 2016 11:64

    Published on: 17 May 2016

  9. Research

    The effect of long-term danazol treatment on haematological parameters in hereditary angioedema

    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...

    Kinga Viktória Kőhalmi, Nóra Veszeli, Zsuzsanna Zotter, Dorottya Csuka, Szabolcs Benedek, Éva Imreh, Lilian Varga and Henriette Farkas

    Orphanet Journal of Rare Diseases 2016 11:18

    Published on: 25 February 2016

  10. Research

    Novel treatment of severe combined immunodeficiency utilizing ex-vivo T-cell depleted haploidentical hematopoietic stem cell transplantation and CD45RA+ depleted donor lymphocyte infusions

    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...

    Nicholas Brodszki, Dominik Turkiewicz, Jacek Toporski, Lennart Truedsson and Josefina Dykes

    Orphanet Journal of Rare Diseases 2016 11:5

    Published on: 15 January 2016

  11. Letter to the Editor

    Impulse oscillometry identifies peripheral airway dysfunction in children with adenosine deaminase deficiency

    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...

    Hirsh D. Komarow, Robert Sokolic, Michael S. Hershfield, Donald B. Kohn, Michael Young, Dean D. Metcalfe and Fabio Candotti

    Orphanet Journal of Rare Diseases 2015 10:159

    Published on: 18 December 2015

  12. Research

    Neutrophil activation during attacks in patients with hereditary angioedema due to C1-inhibitor deficiency

    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...

    Nóra Veszeli, Dorottya Csuka, Zsuzsanna Zotter, Éva Imreh, Mihály Józsi, Szabolcs Benedek, Lilian Varga and Henriette Farkas

    Orphanet Journal of Rare Diseases 2015 10:156

    Published on: 10 December 2015

  13. Research

    Body composition, muscle strength and hormonal status in patients with ataxia telangiectasia: a cohort study

    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. ...

    H. Pommerening, S. van Dullemen, M. Kieslich, R. Schubert, S. Zielen and S. Voss

    Orphanet Journal of Rare Diseases 2015 10:155

    Published on: 9 December 2015

  14. Research

    Skin fibroblasts from individuals with Chediak-Higashi Syndrome (CHS) exhibit hyposensitive immunogenic response

    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...

    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

    Orphanet Journal of Rare Diseases 2014 9:212

    Published on: 21 December 2014

  15. Research

    Lack of cathelicidin processing in Papillon-Lefèvre syndrome patients reveals essential role of LL-37 in periodontal homeostasis

    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...

    Sigrun Eick, Magdalena Puklo, Karina Adamowicz, Tomasz Kantyka, Pieter Hiemstra, Henning Stennicke, Arndt Guentsch, Beate Schacher, Peter Eickholz and Jan Potempa

    Orphanet Journal of Rare Diseases 2014 9:148

    Published on: 27 September 2014