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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 N

1

, Aykut A

2

, Pariltay E

2

, Aksu G

1

, Cogulu O

1,2

,

Kutukculer N

1

1

Ege University Faculty of Medicine, Department of Pediatrics,

Izmir, Turkey

2

Ege 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.

Kope

ć

Agnieszka

Department of Internal Medicine and Allergology

Wroclaw Medical University

M. Curie-Sk

ł

odowskiej 66

50-367 Wroclaw, Poland

E-mail:

astyrc@wp.pl

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