TLIND
MCID: TCL026
MIFTS: 20

T-Cell Lymphopenia, Infantile, with or Without Nail Dystrophy, Autosomal Dominant (TLIND)

Categories: Genetic diseases, Immune diseases, Skin diseases

Aliases & Classifications for T-Cell Lymphopenia, Infantile, with or Without Nail Dystrophy,...

MalaCards integrated aliases for T-Cell Lymphopenia, Infantile, with or Without Nail Dystrophy, Autosomal Dominant:

Name: T-Cell Lymphopenia, Infantile, with or Without Nail Dystrophy, Autosomal Dominant 56 6
T-Cell Lymphopenia, Infantile, Without Nail Dystrophy, Autosomal Dominant 6
Tlind 56

Characteristics:

HPO:

31
t-cell lymphopenia, infantile, with or without nail dystrophy, autosomal dominant:
Inheritance autosomal dominant inheritance


Classifications:



External Ids:

OMIM 56 618806

Summaries for T-Cell Lymphopenia, Infantile, with or Without Nail Dystrophy,...

OMIM : 56 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). (618806)

MalaCards based summary : T-Cell Lymphopenia, Infantile, with or Without Nail Dystrophy, Autosomal Dominant, is also known as t-cell lymphopenia, infantile, without nail dystrophy, autosomal dominant. An important gene associated with T-Cell Lymphopenia, Infantile, with or Without Nail Dystrophy, Autosomal Dominant is FOXN1 (Forkhead Box N1). Affiliated tissues include t cells, bone marrow and bone, and related phenotypes are nail dystrophy and pneumonia

Related Diseases for T-Cell Lymphopenia, Infantile, with or Without Nail Dystrophy,...

Symptoms & Phenotypes for T-Cell Lymphopenia, Infantile, with or Without Nail Dystrophy,...

Human phenotypes related to T-Cell Lymphopenia, Infantile, with or Without Nail Dystrophy, Autosomal Dominant:

31 (showing 6, show less)
# Description HPO Frequency HPO Source Accession
1 nail dystrophy 31 very rare (1%) HP:0008404
2 pneumonia 31 very rare (1%) HP:0002090
3 decrease in t cell count 31 very rare (1%) HP:0005403
4 atopic dermatitis 31 very rare (1%) HP:0001047
5 abnormally low t cell receptor excision circle level 31 very rare (1%) HP:0031545
6 recurrent upper respiratory tract infections 31 HP:0002788

Clinical features from OMIM:

618806

Drugs & Therapeutics for T-Cell Lymphopenia, Infantile, with or Without Nail Dystrophy,...

Search Clinical Trials , NIH Clinical Center for T-Cell Lymphopenia, Infantile, with or Without Nail Dystrophy, Autosomal Dominant

Genetic Tests for T-Cell Lymphopenia, Infantile, with or Without Nail Dystrophy,...

Anatomical Context for T-Cell Lymphopenia, Infantile, with or Without Nail Dystrophy,...

MalaCards organs/tissues related to T-Cell Lymphopenia, Infantile, with or Without Nail Dystrophy, Autosomal Dominant:

40
T Cells, Bone Marrow, Bone, Skin, Thymus, Trachea

Publications for T-Cell Lymphopenia, Infantile, with or Without Nail Dystrophy,...

Articles related to T-Cell Lymphopenia, Infantile, with or Without Nail Dystrophy, Autosomal Dominant:

(showing 11, show less)
# Title Authors PMID Year
1
Nail dystrophy associated with a heterozygous mutation of the nude/SCID human FOXN1 (WHN) gene. 56 6
15897400 2005
2
Ancestral founder mutation of the nude (FOXN1) gene in congenital severe combined immunodeficiency associated with alopecia in southern Italy population. 56 6
15180707 2004
3
Congenital Alopecia and nail dystrophy associated with severe functional T-cell immunodeficiency in two sibs. 56 6
8911612 1996
4
FOXN1 compound heterozygous mutations cause selective thymic hypoplasia in humans. 56
31566583 2019
5
Heterozygous FOXN1 Variants Cause Low TRECs and Severe T Cell Lymphopenia, Revealing a Crucial Role of FOXN1 in Supporting Early Thymopoiesis. 56
31447097 2019
6
FOXN1 Italian founder mutation in Indian family: Implications in prenatal diagnosis. 6
28636882 2017
7
FOXN1 mutation abrogates prenatal T-cell development in humans. 6
21507891 2011
8
First use of thymus transplantation therapy for FOXN1 deficiency (nude/SCID): a report of 2 cases. 6
20978268 2011
9
FOXN1 homozygous mutation associated with anencephaly and severe neural tube defect in human athymic Nude/SCID fetus. 6
18339010 2008
10
Exposing the human nude phenotype. 6
10206641 1999
11
Development of mucociliary transport in the postnatal ferret trachea. 6
1447097 1992

Variations for T-Cell Lymphopenia, Infantile, with or Without Nail Dystrophy,...

ClinVar genetic disease variations for T-Cell Lymphopenia, Infantile, with or Without Nail Dystrophy, Autosomal Dominant:

6 (showing 7, show less) ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 FOXN1 NM_003593.2(FOXN1):c.958C>T (p.Arg320Trp)SNV Pathogenic 827572 17:26861379-26861379 17:28534361-28534361
2 FOXN1 NM_003593.2(FOXN1):c.1418del (p.Pro473fs)deletion Pathogenic 827578 17:26862005-26862005 17:28534987-28534987
3 FOXN1 NM_003593.2(FOXN1):c.763C>T (p.Arg255Ter)SNV Pathogenic 8757 rs104894562 17:26856175-26856175 17:28529157-28529157
4 FOXN1 NM_003593.2(FOXN1):c.1201_1216del (p.Pro401fs)deletion Conflicting interpretations of pathogenicity 418218 rs1064793129 17:26861777-26861792 17:28534759-28534774
5 FOXN1 NM_003593.2(FOXN1):c.961C>A (p.His321Asn)SNV Uncertain significance 663720 17:26861382-26861382 17:28534364-28534364
6 FOXN1 NM_003593.2(FOXN1):c.1392_1401del (p.Pro465fs)deletion Uncertain significance 665887 17:26861978-26861987 17:28534960-28534969
7 FOXN1 NM_003593.2(FOXN1):c.907del (p.Glu303fs)deletion Uncertain significance 422945 rs1064796115 17:26857842-26857842 17:28530824-28530824

Expression for T-Cell Lymphopenia, Infantile, with or Without Nail Dystrophy,...

Search GEO for disease gene expression data for T-Cell Lymphopenia, Infantile, with or Without Nail Dystrophy, Autosomal Dominant.

Pathways for T-Cell Lymphopenia, Infantile, with or Without Nail Dystrophy,...

GO Terms for T-Cell Lymphopenia, Infantile, with or Without Nail Dystrophy,...

Sources for T-Cell Lymphopenia, Infantile, with or Without Nail Dystrophy,...

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