nach oben

Erschienen in:

28.03.2017 | Letter to Editor

Preference of Genetic Diagnosis of CXCR4 Mutation Compared with Clinical Diagnosis of WHIM Syndrome

verfasst von: Asghar Aghamohammadi, Hassan Abolhassani, Jacek Puchalka, Naschla Greif-Kohistani, Samaneh Zoghi, Christoph Klein, Nima Rezaei

Erschienen in: Journal of Clinical Immunology | Ausgabe 3/2017

Einloggen, um Zugang zu erhalten

Excerpt

The enormous phenotypic and genetic heterogeneity in primary immunodeficiency (PID) hamper straightforward clinical diagnosis. More than 50 of all known types of PID classified by the International Union of Immunological Societies (IUIS) are named based on syndromes and clinical phenotypes, while some mutations can lead to variable and unexpected presentations [1]. Therefore, during a genetic evaluation of a patient diagnosed clinically, incomplete and atypical penetrance of a previously described PID gene should be considered by the treating immunologists and physicians. …

Al-Herz W, Bousfiha A, Casanova JL, Chatila T, Conley ME, Cunningham-Rundles C, et al. Primary immunodeficiency diseases: an update on the classification from the international union of immunological societies expert committee for primary immunodeficiency. Front Immunol. 2014;5:162. doi:10.3389/fimmu.2014.00162.PubMedPubMedCentral

Hernandez PA, Gorlin RJ, Lukens JN, Taniuchi S, Bohinjec J, Francois F, et al. Mutations in the chemokine receptor gene CXCR4 are associated with WHIM syndrome, a combined immunodeficiency disease. Nat Genet. 2003;34(1):70–4. doi:10.1038/ng1149.CrossRefPubMed

Liu Q, Chen H, Ojode T, Gao X, Anaya-O'Brien S, Turner NA, et al. WHIM syndrome caused by a single amino acid substitution in the carboxy-tail of chemokine receptor CXCR4. Blood. 2012;120(1):181–9. doi:10.1182/blood-2011-12-395608.CrossRefPubMedPubMedCentral

Tassone L, Moratto D, Vermi W, De Francesco M, Notarangelo LD, Porta F, et al. Defect of plasmacytoid dendritic cells in warts, hypogammaglobulinemia, infections, myelokathexis (WHIM) syndrome patients. Blood. 2010;116(23):4870–3. doi:10.1182/blood-2010-03-272096.CrossRefPubMed

Takaya J, Fujii Y, Higashino H, Taniuchi S, Nakamura M, Kaneko K. A case of WHIM syndrome associated with diabetes and hypothyroidism. Pediatr Diabetes. 2009;10(7):484–6. doi:10.1111/j.1399-5448.2009.00503.x.CrossRefPubMed

Tarzi MD, Jenner M, Hattotuwa K, Faruqi AZ, Diaz GA, Longhurst HJ. Sporadic case of warts, hypogammaglobulinemia, immunodeficiency, and myelokathexis syndrome. J Allergy Clin Immunol. 2005;116(5):1101–5. doi:10.1016/j.jaci.2005.08.040.CrossRefPubMed

Gulino AV, Moratto D, Sozzani S, Cavadini P, Otero K, Tassone L, et al. Altered leukocyte response to CXCL12 in patients with warts hypogammaglobulinemia, infections, myelokathexis (WHIM) syndrome. Blood. 2004;104(2):444–52. doi:10.1182/blood-2003-10-3532.CrossRefPubMed

Hagan JB, Nguyen PL. WHIM syndrome. Mayo Clin Proc. 2007;82(9):1031. doi:10.4065/82.9.1031.CrossRefPubMed

Badolato R, Dotta L, Tassone L, Amendola G, Porta F, Locatelli F, et al. Tetralogy of fallot is an uncommon manifestation of warts, hypogammaglobulinemia, infections, and myelokathexis syndrome. J Pediatr. 2012;161(4):763–5. doi:10.1016/j.jpeds.2012.05.058.CrossRefPubMedPubMedCentral

10.

McDermott DH, Gao JL, Liu Q, Siwicki M, Martens C, Jacobs P, et al. Chromothriptic cure of WHIM syndrome. Cell. 2015;160(4):686–99. doi:10.1016/j.cell.2015.01.014.CrossRefPubMedPubMedCentral

11.

Yoshii Y, Kato T, Ono K, Takahashi E, Fujimoto N, Kobayashi S, et al. Primary cutaneous follicle center lymphoma in a patient with WHIM syndrome. J Eur Acad Dermatol Venereol: JEADV. 2016;30(3):529–30. doi:10.1111/jdv.12927.

12.

Chen XJ, Yang WY, Wang SC, Guo Y, Liu F, Qi BQ, et al. WHIM syndrome: a case report and literature review. Zhonghua er ke za zhi. Chinese journal of pediatrics. 2013;51(3):178–82.PubMed

13.

Handisurya A, Schellenbacher C, Reininger B, Koszik F, Vyhnanek P, Heitger A, et al. A quadrivalent HPV vaccine induces humoral and cellular immune responses in WHIM immunodeficiency syndrome. Vaccine. 2010;28(30):4837–41. doi:10.1016/j.vaccine.2010.04.057.CrossRefPubMedPubMedCentral

14.

Siedlar M, Rudzki Z, Strach M, Trzyna E, Pituch-Noworolska A, Blaut-Szlosarczyk A, et al. Familial occurrence of warts, hypogammaglobulinemia, infections, and myelokathexis (WHIM) syndrome. Arch Immunol Ther Exp. 2008;56(6):419–25. doi:10.1007/s00005-008-0046-x.CrossRef

15.

Beaussant Cohen S, Fenneteau O, Plouvier E, Rohrlich PS, Daltroff G, Plantier I, et al. Description and outcome of a cohort of 8 patients with WHIM syndrome from the French severe chronic neutropenia registry. Orphanet journal of rare diseases. 2012;7:71. doi:10.1186/1750-1172-7-71.CrossRefPubMedPubMedCentral

16.

Donadieu J, Fenneteau O, Beaupain B, Mahlaoui N, Chantelot CB. Congenital neutropenia: diagnosis, molecular bases and patient management. Orphanet journal of rare diseases. 2011;6:26. doi:10.1186/1750-1172-6-26.CrossRefPubMedPubMedCentral

17.

Treon SP, Cao Y, Xu L, Yang G, Liu X, Hunter ZR. Somatic mutations in MYD88 and CXCR4 are determinants of clinical presentation and overall survival in Waldenstrom macroglobulinemia. Blood. 2014;123(18):2791–6. doi:10.1182/blood-2014-01-550905.CrossRefPubMed

18.

Schmidt J, Federmann B, Schindler N, Steinhilber J, Bonzheim I, Fend F, et al. MYD88 L265P and CXCR4 mutations in lymphoplasmacytic lymphoma identify cases with high disease activity. Br J Haematol. 2015;169(6):795–803. doi:10.1111/bjh.13361.CrossRefPubMed

19.

Dotta L, Tassone L, Badolato R. Clinical and genetic features of warts, hypogammaglobulinemia, infections and myelokathexis (WHIM) syndrome. Curr Mol Med. 2011;11(4):317–25.CrossRefPubMed

20.

Diaz GA, Gulino AV. WHIM syndrome: a defect in CXCR4 signaling. Current allergy and asthma reports. 2005;5(5):350–5.CrossRefPubMed

21.

Krivan G, Erdos M, Kallay K, Benyo G, Toth A, Sinko J, et al. Successful umbilical cord blood stem cell transplantation in a child with WHIM syndrome. Eur J Haematol. 2010;84(3):274–5. doi:10.1111/j.1600-0609.2009.01368.x.CrossRefPubMed

22.

McDermott DH, Gao JL, Murphy PM. Chromothriptic cure of WHIM syndrome: implications for bone marrow transplantation. Rare diseases. 2015;3(1):e1073430. doi:10.1080/21675511.2015.1073430.CrossRefPubMedPubMedCentral

23.

Bhar S, Yassine K, Martinez C, Sasa G, Naik S, Mahoney D, et al. Allogeneic stem cell transplantation in a pediatric patient with whim syndrome. Blood. 2015;126(23).

24.

Podjasek JC, Abraham RS. Autoimmune cytopenias in common variable immunodeficiency. Front Immunol. 2012;3:189. doi:10.3389/fimmu.2012.00189.CrossRefPubMedPubMedCentral

25.

Latif AH, Tabassomi F, Abolhassani H, Hammarstrom L. Molecular diagnosis of primary immunodeficiency diseases in a developing country: Iran as an example. Expert Rev Clin Immunol. 2014;10(3):385–96. doi:10.1586/1744666X.2014.880654.CrossRefPubMed

Titel: Preference of Genetic Diagnosis of CXCR4 Mutation Compared with Clinical Diagnosis of WHIM Syndrome
verfasst von: Asghar Aghamohammadi
Hassan Abolhassani
Jacek Puchalka
Naschla Greif-Kohistani
Samaneh Zoghi
Christoph Klein
Nima Rezaei
Publikationsdatum: 28.03.2017
Verlag: Springer US
Erschienen in: Journal of Clinical Immunology / Ausgabe 3/2017
Print ISSN: 0271-9142
Elektronische ISSN: 1573-2592
DOI: https://doi.org/10.1007/s10875-017-0387-5

Leitlinien kompakt für die Innere Medizin

Mit medbee Pocketcards sicher entscheiden.

^{Seit 2022 gehört die medbee GmbH zum Springer Medizin Verlag}

Kostenlos registrieren

Neu im Fachgebiet Innere Medizin

20.04.2024 | EAU 2024 | Kongressbericht | Nachrichten

Update Innere Medizin

Bestellen Sie unseren Fach-Newsletter und bleiben Sie gut informiert.

Newsletter bestellen

Live-Webinar: Aktuelle Leitlinien bei Herz-Kreislauf-Erkrankungen

Springer Medizin

Preference of Genetic Diagnosis of CXCR4 Mutation Compared with Clinical Diagnosis of WHIM Syndrome

Excerpt

Leitlinien kompakt für die Innere Medizin

Neu im Fachgebiet Innere Medizin

Harnwegsinfektprophylaxe: Es geht auch ohne Antibiotika

Parodontalbehandlung verbessert Prognose bei Katheterablation

Prostatakarzinom: EU initiiert neues Screeningkonzept

Blasenkarzinom – Biomarker statt Zytologie?

Update Innere Medizin

Live-Webinar: Aktuelle Leitlinien bei Herz-Kreislauf-Erkrankungen

Springer Medizin

Excerpt

Bitte loggen Sie sich ein, um Zugang zu diesem Inhalt zu erhalten

Weitere Artikel der Ausgabe 3/2017

Different Immunological Pathways Underlie the Immune Response to Pneumococcal Polysaccharides

Diagnosis of Interstitial Lung Disease Caused by Possible Hypersensitivity Pneumonitis in a Child: Think CGD

Serial Serum Immunoglobulin G (IgG) Trough Levels in Patients with X-linked Agammaglobulinemia on Replacement Therapy with Intravenous Immunoglobulin: Its Correlation with Infections in Indian Children

Incidence of typically Severe Primary Immunodeficiency Diseases in Consanguineous and Non-consanguineous Populations

Gastrointestinal Manifestations in X-linked Agammaglobulinemia

Infection Profile in Chronic Granulomatous Disease: a 23-Year Experience from a Tertiary Care Center in North India

Leitlinien kompakt für die Innere Medizin

Neu im Fachgebiet Innere Medizin

Harnwegsinfektprophylaxe: Es geht auch ohne Antibiotika

Parodontalbehandlung verbessert Prognose bei Katheterablation

Prostatakarzinom: EU initiiert neues Screeningkonzept

Blasenkarzinom – Biomarker statt Zytologie?

Update Innere Medizin