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Practitioner's Corner

J Investig Allergol Clin Immunol 2019; Vol. 29(5): 378-398

© 2019 Esmon Publicidad

Manuscript received November 16, 2018; accepted for

publication May 15, 2019.

Neslihan Edeer Karaca

Ege University Faculty of Medicine, Children’s Hospital

Second Floor, Bornova, 35100 Izmir, Turkey

E-mail:

neslihanedeer@gmail.com

2017 Primary Immunodeficiency Diseases Committee Report

on Inborn Errors of Immunity. J Clin Immunol. 2018;38:96-

128.

2. Bousfiha A, Jeddane L, Picard C, Ailal F, Bobby Gaspar H,

Al-Herz W, et al. The 2017 IUIS Phenotypic Classification for

Primary Immunodeficiencies.J Clin Immunol. 2018;38:129-

43.

3. Bourgeois P, Esteve C, Chaix C, Béroud C, Lévy N; THES clinical

consortium, et al. Tricho-Hepato-Enteric Syndrome mutation

update:Mutations

spectrum of TTC37 and SKIV2L,clinical

analysis and future prospects.Hum Mutat. 2018;39:774-89.

4. Girault D, Goulet O, LeDeist F, Brousse N, Colomb V, Cesarini

JP, et al. Intractable diarrhea syndrome associated with

phenotypic abnormalities and immune deficiency. J Pediatr.

1994;125:36-42.

5. Fabre A, Bourgeois P, Coste ME, Roman C, Barlogis V, Badens

C. Management of syndromic diarrhea/tricho-hepato-enteric

syndrome: A review of the literature. Intractable Rare Dis Res.

2017;6:152-7.

6. Monies DM, Rahbeeni Z, Abouelhoda M, Naim EA, Al-

Younes B, Meyer BF, et al. Expanding phenotypic and allelic

heterogeneity of tricho-hepato-enteric syndrome. Pediatr

Gastroenterol Nutr. 2015;60:352-6.

7. Marzano AV, Damiani G, Genovese G, Gattorno M. A

dermatologic perspective on autoinflammatory diseases. Clin

Exp Rheumatol. 2018;36 Suppl 110:32-8.

8. Rigante D. New mosaic tiles in childhood hereditary

autoinflammatory disorders. Immunol Lett. 2018;193:67-76.

9. Rider NL, Boisson B, Jyonouchi S, Hanson EP, Rosenzweig SD,

Cassanova JL, et al. Novel TTC37 Mutations in a Patient with

Immunodeficiency without Diarrhea: Extending the Phenotype

of Trichohepatoenteric Syndrome. Front Pediatr. 2015;3:2.

10. Vély F, Barlogis V, Marinier E, Coste ME, Dubern B, Dugelay

E, et al. Combined Immunodeficiency in Patients With

Trichohepatoenteric Syndrome. Front Immunol. 2018;9:1036.

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