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J Investig Allergol Clin Immunol 2019; Vol. 29(5): 378-398 © 2019 Esmon Publicidad
A Novel TTC37 Mutation Causing Clinical Symptoms
of Trichohepatoenteric Syndrome Such as Pyoderma
Gangrenosum and Immunodeficiency Without Severe
Diarrhea
Karaca Edeer N1, Aykut A2, Pariltay E2, Aksu G1, Cogulu O1,2,
Kutukculer N1
1Ege University Faculty of Medicine, Department of Pediatrics,
Izmir, Turkey
2Ege University Faculty of Medicine, Department of Medical
Genetics, Izmir, Turkey
J Investig Allergol Clin Immunol 2019; Vol. 29(5): 396-398
doi: 10.18176/jiaci.0418
Key words: Trichohepatoenteric syndrome. Immunodeficiency. Pyoderma
gangrenosum.
Palabras clave: Síndrome tricohepatoentérico. Inmunodeficiencia.
Pioderma gangrenoso.
Targeted next-generation sequencing (TNGS) is used to
identify specific cohorts of mutations by sequencing a panel
of diseases. Reverse phenotyping can play a crucial role in
diagnosis.
TTC37 deficiency is included in the “predominantly
antibody deficiency” group of the IUIS-2017 phenotypic
classification of primary immunodeficiency disorders [1,2].
We report the case of a patient with recurrent infections and
pyoderma gangrenosum–like lesions. Reverse phenotyping
was used to confirm diagnosis of trichohepatoenteric syndrome
(THES) without severe diarrhea due to a novel homozygous
mutation in the TTC37 gene.
The patient was a 22-month-old boy and the third child
of consanguineous-parents. He was born at term (3400 g,
percentile 25-50), and his developmental milestones were
normal. He was admitted for recurrent skin abscesses and
oral lesions. Physical examination revealed oral aphthous
lesions and ulcerous lesions on his hands. His weight was
11 kg (percentile 3-10) and his height was 82 cm (percentile
3-10). Laboratory investigations showed leukocytosis,
thrombocytosis, and high IgG/IgM and low IgA levels
(Supplementary Material), with adequate antibody responses
to childhood vaccines. Normal results were recorded
for lymphocyte subgroups, CD11a-CD18 expression on
neutrophils, quantitative oxidative-burst activity, and IgE
levels, thus excluding severe combined immunodeficiency,
chronic granulomatous disease, leukocyte adhesion defects,
and hyper-IgE syndromes. Clinical and laboratory findings
improved with antibiotic therapy. The patient was discharged
with a diagnosis of selective IgA deficiency.
The patient also had coarse hair and sterile erythematous-
violaceous pyoderma gangrenosum–like plaques on his neck
and developed a 1/6 systolic murmur at the apex 3 months
later (Figure). Skin biopsy showed hyperkeratosis, acanthosis,
and inflammatory infiltration. The result of a purified protein
Manuscript received February 8, 2019; accepted for publication
May 13, 2019.
Kopeć Agnieszka
Department of Internal Medicine and Allergology
Wroclaw Medical University
M. Curie-Sk łodowskiej 66
50-367 Wroclaw, Poland
E-mail:
7. Teramoto S, Yamamoto H, Yamaguchi Y, Tmoita T, Ouchi
Y. Diffuse aspiration bronchiolitis due to achalasia. Chest.
2004;125(1):349-50.
8. Igarashi T, Hirasawa M, Shibuya Y, Natsuizaka T, Asakawa M,
Suzuki A. A case of diffuse aspiration bronchiolitis secondary
to achalasia of the esophagus [in Japanese]. Nihon Kyobu
Shikkan Gakkai Zasshi. 1991;29:1059-63.
9. Sadowski DC, Ackah F, Jiang B, Svenson LW. Achalasia:
incidence, prevalence and survival. A population-based study.
Neurogastroenterol Motil. 2010;22(9):256-61.
10. Sinan H, Tatum RP, Soares RV, Martin AV, Pellegrini CV,
Oelschlager BK. Prevalence of respiratory symptoms in
patients with achalasia. Dis Esophagus. 2011;24(2):224-8.
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