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T-cell immunodeficiency, congenital alopecia and nail dystrophy

MedGen UID:
Concept ID:
Disease or Syndrome
Synonyms: Alopecia and T-Cell Immunodeficiency; Congenital alopecia and nail dystrophy associated with severe functional T-cell immunodeficiency; Pignata Guarino syndrome
Modes of inheritance:
Autosomal recessive inheritance
MedGen UID:
Concept ID:
Intellectual Product
Sources: HPO, OMIM, Orphanet
A mode of inheritance that is observed for traits related to a gene encoded on one of the autosomes (i.e., the human chromosomes 1-22) in which a trait manifests in homozygotes. In the context of medical genetics, autosomal recessive disorders manifest in homozygotes (with two copies of the mutant allele) or compound heterozygotes (whereby each copy of a gene has a distinct mutant allele).
Autosomal recessive inheritance (HPO, OMIM, Orphanet)
SNOMED CT: Severe T-cell immunodeficiency, congenital alopecia, nail dystrophy syndrome (720345008); Alymphoid cystic thymic dysgenesis (720345008); Winged helix deficiency (720345008); Pignata Guarino syndrome (720345008)
Gene (location): FOXN1 (17q11.2)
OMIM®: 601705
Orphanet: ORPHA169095


T-cell immunodeficiency, congenital alopecia, and nail dystrophy is a type of severe combined immunodeficiency (SCID), which is a group of disorders characterized by an almost total lack of immune protection from foreign invaders such as bacteria and viruses. People with this form of SCID are missing functional immune cells called T cells, which normally recognize and attack foreign invaders to prevent infection. Without functional T cells, affected individuals develop repeated and persistent infections starting early in life. The infections result in slow growth and can be life-threatening; without effective treatment, most affected individuals live only into infancy or early childhood.T-cell immunodeficiency, congenital alopecia, and nail dystrophy also affects growth of the hair and nails. Congenital alopecia refers to an absence of hair that is apparent from birth. Affected individuals have no scalp hair, eyebrows, or eyelashes. Nail dystrophy is a general term that describes malformed fingernails and toenails; in this condition, the nails are often ridged, pitted, or abnormally curved.Researchers have described abnormalities of the brain and spinal cord (central nervous system) in at least two cases of this condition. However, it is not yet known whether central nervous system abnormalities are a common feature of T-cell immunodeficiency, congenital alopecia, and nail dystrophy.
[from GHR]

Clinical features

MedGen UID:
Concept ID:
Absence of hair from areas where it is normally present.
Nail pits
MedGen UID:
Concept ID:
Depressions on the surface of the nail. This finding may be associated with psoriasis.
Nail dystrophy
MedGen UID:
Concept ID:
Disease or Syndrome
Deformity or discoloration of a fingernail or toenail.(NICHD)
Ridged nail
MedGen UID:
Concept ID:
Longitudinal, linear prominences in the nail plate.
Reduced circulating T-helper cells
MedGen UID:
Concept ID:
Reduced numbers of helper T cells.
MedGen UID:
Concept ID:

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
  • CROGVT-cell immunodeficiency, congenital alopecia and nail dystrophy
Follow this link to review classifications for T-cell immunodeficiency, congenital alopecia and nail dystrophy in Orphanet.

Recent clinical studies


Pignata C, Fusco A, Amorosi S
Adv Exp Med Biol 2009;665:195-206. PMID: 20429426
Pignata C, Gaetaniello L, Masci AM, Frank J, Christiano A, Matrecano E, Racioppi L
Blood 2001 Feb 15;97(4):880-5. PMID: 11159512


Radha Rama Devi A, Panday NN, Naushad SM
Gene 2017 Sep 5;627:222-225. Epub 2017 Jun 19 doi: 10.1016/j.gene.2017.06.033. PMID: 28636882
Pignata C
J Hematother Stem Cell Res 2002 Apr;11(2):409-14. doi: 10.1089/152581602753658592. PMID: 11983112


Pignata C, Gaetaniello L, Masci AM, Frank J, Christiano A, Matrecano E, Racioppi L
Blood 2001 Feb 15;97(4):880-5. PMID: 11159512

Clinical prediction guides

Pignata C, Fiore M, Guzzetta V, Castaldo A, Sebastio G, Porta F, Guarino A
Am J Med Genet 1996 Oct 16;65(2):167-70. doi: 10.1002/(SICI)1096-8628(19961016)65:2<167::AID-AJMG17>3.0.CO;2-O. PMID: 8911612

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