Publications

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Chronic granulomatous disease 2018: advances in pathophysiology and clinical management
Reinhard A. Seger*

El-Gamal YM, Hossny EM, El-Sayed ZA, Reda SM. Allergy and immunology in Africa: Challenges and unmet needs. J Allergy ClinImmunol. 2017 Nov;140(5):1240-1243. Nominated for the the Elsevier Atlas Award.
Sullivan KE, Bassiri H, Bousfiha AA, Costa-Carvalho BT, Freeman AF, Hagin D, Lau YL, Lionakis MS, Moreira I, Pinto JA, de Moraes-Pinto MI, Rawat A, Reda SM, Reyes SOL, Seppänen M, Tang MLK. Emerging Infections and Pertinent Infections Related to Travel for Patients with Primary Immunodeficiencies. J ClinImmunol. 2017 Oct;37(7):650-692. doi: 10.1007/s10875-017-0426-2. Epub 2017 Aug 7.
El Hawary RE, Meshaal SS, AbdElaziz DS, Elsharkawy MA, Alkady RS, Lotfy S, El-Sheikhah A, Hassan A, Galal NM, Boutros JA, Elmarsafy AM. Genetic Counseling in Primary Immunodeficiency Disorders: An Emerging Experience in Egypt. MolDiagnTher. 2017 Dec;21(6):677-684.Galal N, Meshaal S, Elhawary R, ElAziz DA, Alkady R, Lotfy S, Eldash A, Boutros J, Elmarsafy A. Patterns of Primary Immunodeficiency Disorders Among a Highly Consanguineous Population: Cairo University Pediatric Hospital's 5-Year Experience. J ClinImmunol. 2016 Oct; 36(7):649-55.
Picard C, Bobby Gaspar H, Al-Herz W, Bousfiha A, Casanova JL, Chatila T, Crow YJ, Cunningham-Rundles C, Etzioni A, Franco JL, Holland SM, Klein C, Morio T, Ochs HD, Oksenhendler E, Puck J, Tang MLK, Tangye SG, Torgerson TR, Sullivan KE. International Union of Immunological Societies: 2017 Primary Immunodeficiency Diseases Committee Report on Inborn Errors of Immunity. J ClinImmunol. 2018 Jan;38(1):96-128. doi: 10.1007/s10875-017-0464-9. Epub 2017 Dec 11.

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Slatter MA, Rao K, Abd Hamid IJ, Nademi Z, Chiesa R, Elfeky R, Pearce MS, Amrolia P, Worth A, Flood T, Abinun M, Hambleton S, Qasim W, Gaspar HB, Cant AJ, Gennery AR, Veys P. Treosulfan and Fludarabine Conditioning for Hematopoietic Stem Cell Transplantation in Children with Primary Immunodeficiency: UK Experience. Biol Blood Marrow Transplant. 2017 Nov 16.
Aldenhoven M, van den Broek BTA, Wynn RF, O'Meara A, Veys P, Rovelli A, Jones SA, Parini R, van Hasselt PM, Renard M, Bordon V, de Koning TJ, Boelens JJ. Quality of life of Hurler syndrome patients after successful hematopoietic stem cell transplantation . Blood Adv. 2017 Nov 7;1(24):2236-2242.
Elfeky RA, Furtado-Silva JM, Chiesa R, Rao K, Lucchini G, Amrolia P, Worth A, Gaspar B, Qasim W, Veys P. Umbilical cord blood transplantation without in vivo T-cell depletion for children with MHC class II deficiency. J Allergy Clin Immunol. 2018 Jan 20.
Hiwarkar P, Hubank M, Qasim W, Chiesa R, Gilmour KC, Saudemont A, Amrolia PJ, Veys P. Cord blood transplantation recapitulates fetal ontogeny with a distinct molecular signature that supports CD4₊T-cell reconstitution. Blood Adv. 2017 Nov 2;1(24):2206-2216.
Samarasinghe S, Veys P, Vora A, Wynn R. Paediatric amendment to adult BSH Guidelines for aplastic anaemia. Br J Haematol. 2017 Dec 28.

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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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Nesrine Radwan
Lecturer in Paediatrics, Ain Shams University, Egypt.

Background: CGD is an immunodeficiency disease caused by mutations in genes encoding subunits of the leukocyte NADPH oxidase complex causing defective “respiratory burst”, and thus failure of clearance of micro-organisms. Its prevalence is 1∶250,000. The majority of CGD patients suffer from severe recurrent bacterial and fungal infections, dysregulated Th-17-lymphocyte-controlled inflammation causing granuloma formationand autoimmune phenomena. The most common offending organisms are Staphylococcus aureus, and Aspergillus. The leukocyte NADPH oxidase, consists of subunits, four of which are important for CGD; gp91phox ,p22phox (located in membranes) and p47phox, p67phox ( located in the cytosol). gp91phox gene mutations are responsible for 70% of CGD cases which are inherited as X-linked recessive. Mutations in the other subunits are autosomal recessive in inheritance (figure 1)1. Treatment includes long-term prophylactic antibiotics and antifungals and curative stem-cell transplantation.

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.

Programme

Website IPIC2017

1: El-Gamal YM, Hossny EM, El-Sayed ZA, Reda SM. Allergy and immunology in Africa: Challenges and unmet needs. J Allergy Clin Immunol. 2017 Sep 26. pii: S0091-6749(17)31508-7. doi: 10.1016/j.jaci.2017.09.004. [Epub ahead of print] PubMed PMID: 28962920.

2: Petersen BS, August D, Abt R, Alddafari M, Atarod L, Baris S, Bhavsar H, Brinkert F, Buchta M, Bulashevska A, Chee R, Cordeiro AI, Dara N, Dückers G, Elmarsafy A, Frede N, Galal N, Gerner P, Glocker EO, Goldacker S, Hammermann J, Hasselblatt P, Havlicekova Z, Hübscher K, Jesenak M, Karaca NE, Karakoc-Aydiner E, Kharaghani MM, Kilic SS, Kiykim A, Klein C, Klemann C, Kobbe R, Kotlarz D, Laass MW, Leahy TR, Mesdaghi M, Mitton S, Neves JF, Öztürk B, Pereira LF, Rohr J, Restrepo JLR, Ruzaike G, Saleh N, Seneviratne S, Senol E, Speckmann C, Tegtmeyer D, Thankam P, van der Werff Ten Bosch J, von Bernuth H, Zeissig S, Zeissig Y, Franke A, Grimbacher B. Targeted Gene Panel Sequencing for Early-onset Inflammatory Bowel Disease and Chronic Diarrhea. Inflamm Bowel Dis. 2017 Sep 19. doi: 10.1097/MIB.0000000000001235. [Epub ahead of print] PubMed PMID: 28930861.

3: El Hawary RE, Meshaal SS, Abd Elaziz DS, Elsharkawy MA, Alkady RS, Lotfy S, El-Sheikhah A, Hassan A, Galal NM, Boutros JA, Elmarsafy AM. Genetic Counseling in Primary Immunodeficiency Disorders: An Emerging Experience in Egypt. Mol Diagn Ther. 2017 Sep 12. doi: 10.1007/s40291-017-0297-5. [Epub ahead of print] PubMed PMID: 28900865.

As every year, the World PI Week is organized worldwide to raise awareness, diagnosis and treatment of PID together. In Africa, some country will also participate to the campaign this year.