1: Struja T, Kutz A, Fischli S, Meier C, Mueller B, Recher M, Schuetz P. Is Graves' disease a primary immunodeficiency? New immunological perspectives on an endocrine disease. BMC Med. 2017 Sep 25;15(1):174. doi: 10.1186/s12916-017-0939-9. Review. PubMed PMID: 28942732.

2: Lien R, Lin YF, Lai MW, Weng HY, Wu RC, Jaing TH, Huang JL, Tsai SF, Lee WI. Novel Mutations of the Tetratricopeptide Repeat Domain 7A Gene and Phenotype/Genotype Comparison. Front Immunol. 2017 Sep 7;8:1066. doi: 10.3389/fimmu.2017.01066. eCollection 2017. PubMed PMID: 28936210; PubMed Central
PMCID: PMC5594067.

3: Gupta S, Gupta A. Selective IgM Deficiency-An Underestimated Primary Immunodeficiency. Front Immunol. 2017 Sep 5;8:1056. doi: 10.3389/fimmu.2017.01056. eCollection 2017. Review. PubMed PMID: 28928736; PubMed Central PMCID: PMC5591887.

4: Wasserman RL. Recombinant human hyaluronidase-facilitated subcutaneous immunoglobulin infusion in primary immunodeficiency diseases. Immunotherapy. 2017 Sep 5. doi: 10.2217/imt-2017-0092. [Epub ahead of print] PubMed PMID: 28871852.

Reem Elfeky
Clinical research associate. Institute of Child Health, UK

CMC does not represent a specific disease, but rather a phenotypic presentation of a spectrum of Immunologic, Endocrinologic, Autoimmune disorders.
The unifying feature of these heterogeneous disorders is impaired cell-mediated immunity against Candida species.

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Martine PERGENT, Vice President IPOPI, the International Patient Organisation for Primary Immunodeficiencies

Artcle PDF

Primary Immunodeficiencies (PID) are a group of genetic disorders caused when the immune system does not work properly. PIDs are life threatening conditions that lead to severe infections and high rate of mortality when not diagnosed and treated properly. Considering the prevalence of those conditions, around 600.000 people in Africa have their lives impacted by these chronic conditions. 99% remain undiagnosed and untreated.

The PID environment in the Africa is challenging and many factors hinder further progress including poor medical and healthcare infrastructure, low diagnosis rate, lack of awareness and medical expertise as well as financial and socio-economical issues. There are not many patients diagnosed and an added difficulty is to identify volunteers to engage into patients organisations.

    1. Hiwarkar P, Qasim W, Ricciardelli I, Gilmour K, Quezada S, Saudemont A, Amrolia P, Veys P. Cord blood T cells mediate enhanced antitumor effects compared with adult peripheral blood T cells. 2015 Dec 24;126(26):2882-91.
    2. Boztug H, Sykora KW, Slatter M, Zecca M, Veys P, Lankester A, Cant A, Skinner R, Wachowiak J, Glogova E, Pötschger U, Peters C. European Society for Blood and Marrow Transplantation Analysis of Treosulfan Conditioning Before Hematopoietic Stem Cell Transplantation in Children and Adolescents With Hematological Malignancies. Pediatr Blood Cancer. 2016 Jan;63(1):139-48.
    3. Idiopathic pancreatitis in a patient with a STAT3 mutation. Michaud C, Peppers B, Frith J, Tcheurekdjian H, Hostoffer RAllergy Rhinol (Providence). 2016 Jan;7(1):42-4.

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