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T-cell lymphopenia, infantile, with or without nail dystrophy, autosomal dominant(TLIND)

MedGen UID:
1712366
Concept ID:
C5394133
Disease or Syndrome
Synonyms: T-CELL LYMPHOPENIA, INFANTILE, WITH OR WITHOUT NAIL DYSTROPHY, AUTOSOMAL DOMINANT; TLIND
 
Gene (location): FOXN1 (17q11.2)
 
Monarch Initiative: MONDO:0032928
OMIM®: 618806

Definition

Infantile T-cell lymphopenia with or without nail dystrophy (TLIND) is an autosomal dominant disorder characterized by decreased numbers of T cells, particularly cytotoxic CD8+ T cells, usually apparent from infancy. Patients are often identified through newborn screening with the finding of low levels of T-cell receptor excision circles (TRECs). Affected individuals tend to be more susceptible to recurrent infections, mainly respiratory viral infections. However, the severity is highly variable, and patients usually improve with age later in childhood and as adults, even if CD8+ T cells remain decreased compared to normal. Additional features may include a small thymic shadow, indicative of impaired thymic development, skin abnormalities, such as atopic dermatitis, and nail dystrophy. As rare patients may develop more serious infections, affected individuals should be monitored. Bone marrow transplantation is not curative (summary by Bosticardo et al., 2019). [from OMIM]

Clinical features

From HPO
Recurrent upper respiratory tract infections
MedGen UID:
154380
Concept ID:
C0581381
Disease or Syndrome
An increased susceptibility to upper respiratory tract infections as manifested by a history of recurrent upper respiratory tract infections (running ears - otitis, sinusitis, pharyngitis, tonsillitis).
Atopic eczema
MedGen UID:
41502
Concept ID:
C0011615
Disease or Syndrome
Atopic dermatitis (ATOD), also known as eczema, is a common chronic pruritic inflammatory skin disease with a strong genetic component. Onset typically occurs during the first 2 years of life (review by Soderhall et al., 2007). Genetic Heterogeneity of Atopic Dermatitis Many inflammatory diseases, such as atopic eczema, are genetically complex, with multiple alleles at several loci thought to be involved in their pathogenesis. Several susceptibility loci for atopic dermatitis have been identified: ATOD1 on chromosome 3q21, ATOD2 (605803) on chromosome 1q21, ATOD3 (605804) on chromosome 20p, ATOD4 (605805) on chromosome 17q25.3, ATOD5 (603165) on chromosome 13q12-q14, ATOD6 (605845) on chromosome 5q31-q33, ATOD7 (613064) on chromosome 11q13.5, ATOD8 (613518) on chromosome 4q22.1, and ATOD9 (613519) on chromosome 3p24.
Pneumonia
MedGen UID:
10813
Concept ID:
C0032285
Disease or Syndrome
Inflammation of any part of the lung parenchyma.
T lymphocytopenia
MedGen UID:
419385
Concept ID:
C2931322
Finding
An abnormally low count of T cells.
Abnormally low T cell receptor excision circle level
MedGen UID:
1611921
Concept ID:
C4531052
Finding
Reduced level of T cell receptor excision circle (TRECs) as measured by the TREC assay. Late in maturation, 70% of thymocytes that will ultimately express alpha/beta-T cell receptors form a circular DNA TREC from the excised TCRdelta gene that lies within the TCRalpha genetic locus. The circles are stable but do not increase following cell division and, therefore, become diluted as T cells proliferate. A quantitative polymerase chain reaction (PCR) reaction across the joint of the circular DNA provides the TREC copy number, a marker of newly-formed, antigenically-naïve thymic emigrant T cells.
Nail dystrophy
MedGen UID:
66368
Concept ID:
C0221260
Disease or Syndrome
Onychodystrophy (nail dystrophy) refers to nail changes apart from changes of the color (nail dyschromia) and involves partial or complete disruption of the various keratinous layers of the nail plate.

Professional guidelines

PubMed

Chu HT, Dinh Duong TA, Le DH, Le TV, Nguyen BB, Dang CV, Vu QV
Pediatr Neonatol 2023 Jul;64(4):405-410. Epub 2023 Jan 3 doi: 10.1016/j.pedneo.2022.09.018. PMID: 36658016
Porter RM, Bravo AA, Smith FJD
J Am Podiatr Med Assoc 2017 Sep;107(5):428-435. doi: 10.7547/16-043. PMID: 29077501
Gruber R, Edlinger M, Kaspar RL, Hansen CD, Leachman S, Milstone LM, Smith FJ, Sidoroff A, Fritsch PO, Schmuth M
J Am Acad Dermatol 2012 Jun;66(6):e193-9. Epub 2011 May 24 doi: 10.1016/j.jaad.2011.02.003. PMID: 21601946

Recent clinical studies

Etiology

Chu HT, Dinh Duong TA, Le DH, Le TV, Nguyen BB, Dang CV, Vu QV
Pediatr Neonatol 2023 Jul;64(4):405-410. Epub 2023 Jan 3 doi: 10.1016/j.pedneo.2022.09.018. PMID: 36658016
Porter RM, Bravo AA, Smith FJD
J Am Podiatr Med Assoc 2017 Sep;107(5):428-435. doi: 10.7547/16-043. PMID: 29077501
D'Assante R, Fusco A, Palamaro L, Giardino G, Gallo V, Cirillo E, Pignata C
Int Rev Immunol 2016;35(1):25-38. Epub 2015 Mar 16 doi: 10.3109/08830185.2015.1010724. PMID: 25774666
McLean WH, Hansen CD, Eliason MJ, Smith FJ
J Invest Dermatol 2011 May;131(5):1015-7. Epub 2011 Mar 24 doi: 10.1038/jid.2011.59. PMID: 21430705
Savage SA, Bertuch AA
Genet Med 2010 Dec;12(12):753-64. doi: 10.1097/GIM.0b013e3181f415b5. PMID: 21189492Free PMC Article

Diagnosis

Chu HT, Dinh Duong TA, Le DH, Le TV, Nguyen BB, Dang CV, Vu QV
Pediatr Neonatol 2023 Jul;64(4):405-410. Epub 2023 Jan 3 doi: 10.1016/j.pedneo.2022.09.018. PMID: 36658016
Stewart CL, Takeshita J, Hansen CD, Rubin AI
J Cutan Pathol 2020 Apr;47(4):357-362. Epub 2020 Jan 9 doi: 10.1111/cup.13630. PMID: 31845382
Porter RM, Bravo AA, Smith FJD
J Am Podiatr Med Assoc 2017 Sep;107(5):428-435. doi: 10.7547/16-043. PMID: 29077501
Handley TP, McCaul JA, Ogden GR
Oral Oncol 2006 Apr;42(4):331-6. Epub 2005 Sep 2 doi: 10.1016/j.oraloncology.2005.06.007. PMID: 16140563
Burkhart CG, Ruppert ES
Clin Pediatr (Phila) 1981 Aug;20(8):493-6. doi: 10.1177/000992288102000801. PMID: 7249491

Therapy

Stewart CL, Takeshita J, Hansen CD, Rubin AI
J Cutan Pathol 2020 Apr;47(4):357-362. Epub 2020 Jan 9 doi: 10.1111/cup.13630. PMID: 31845382
Sharapova SO, Haapaniemi E, Sakovich IS, Kostyuchenko LV, Donkó A, Dulau-Florea A, Malko O, Bondarenko AV, Stegantseva MV, Leto TL, Uygun V, Karasu GT, Holland SM, Hsu AP, Aleinikova OV
Clin Immunol 2019 Aug;205:1-5. Epub 2019 May 7 doi: 10.1016/j.clim.2019.05.003. PMID: 31071452
Abdollahimajd F, Rajabi F, Shahidi-Dadras M, Saket S, Youssefian L, Vahidnezhad H, Uitto J
Br J Dermatol 2019 Sep;181(3):584-586. Epub 2018 Dec 2 doi: 10.1111/bjd.17276. PMID: 30307612
Goel R, Bodh SA, Sardana K, Goel A
Nepal J Ophthalmol 2015 Jan-Jun;7(1):79-81. doi: 10.3126/nepjoph.v7i1.13175. PMID: 26695611
Gruber R, Edlinger M, Kaspar RL, Hansen CD, Leachman S, Milstone LM, Smith FJ, Sidoroff A, Fritsch PO, Schmuth M
J Am Acad Dermatol 2012 Jun;66(6):e193-9. Epub 2011 May 24 doi: 10.1016/j.jaad.2011.02.003. PMID: 21601946

Prognosis

Samuelov L, Sarig O, Adir N, Pavlovsky M, Smith FJ, Schwartz J, Hansen CD, Sprecher E
Clin Exp Dermatol 2021 Jul;46(5):867-873. Epub 2021 Mar 17 doi: 10.1111/ced.14569. PMID: 33486795
Zhong L, Wang J, Wang W, Wang L, Quan M, Tang X, Gou L, Wei M, Xiao J, Zhang T, Sui R, Zhou Q, Song H
J Clin Immunol 2020 Feb;40(2):350-358. Epub 2020 Jan 14 doi: 10.1007/s10875-020-00741-6. PMID: 31939038
Samuelov L, Smith FJD, Hansen CD, Sprecher E
Br J Dermatol 2020 Mar;182(3):738-746. Epub 2020 Jan 14 doi: 10.1111/bjd.18794. PMID: 31823354
Porter RM, Bravo AA, Smith FJD
J Am Podiatr Med Assoc 2017 Sep;107(5):428-435. doi: 10.7547/16-043. PMID: 29077501
Naik P, Kini P, Chopra D, Gupta Y
Am J Med Genet A 2012 Jul;158A(7):1696-701. Epub 2012 May 25 doi: 10.1002/ajmg.a.35389. PMID: 22639454

Clinical prediction guides

Samuelov L, Sarig O, Adir N, Pavlovsky M, Smith FJ, Schwartz J, Hansen CD, Sprecher E
Clin Exp Dermatol 2021 Jul;46(5):867-873. Epub 2021 Mar 17 doi: 10.1111/ced.14569. PMID: 33486795
Samuelov L, Smith FJD, Hansen CD, Sprecher E
Br J Dermatol 2020 Mar;182(3):738-746. Epub 2020 Jan 14 doi: 10.1111/bjd.18794. PMID: 31823354
Porter RM, Bravo AA, Smith FJD
J Am Podiatr Med Assoc 2017 Sep;107(5):428-435. doi: 10.7547/16-043. PMID: 29077501
Gruber R, Edlinger M, Kaspar RL, Hansen CD, Leachman S, Milstone LM, Smith FJ, Sidoroff A, Fritsch PO, Schmuth M
J Am Acad Dermatol 2012 Jun;66(6):e193-9. Epub 2011 May 24 doi: 10.1016/j.jaad.2011.02.003. PMID: 21601946
Knudson M, Kulkarni S, Ballas ZK, Bessler M, Goldman F
Blood 2005 Jan 15;105(2):682-8. Epub 2004 Jul 6 doi: 10.1182/blood-2004-04-1673. PMID: 15238429

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