All individuals with variants in gene USB1

29 entries on 1 page. Showing entries 1 - 29.
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00057918 - PubMed: Colombo 2012 - F ? (France) African >37y - - - PN autosomal recessive poikiloderma (early onset) with ichthyosis, palmoplantar keratoderma, pachyonychia, mild photosensitivity, chronic neutropenia, recalcitrant pulmonary disease, evidence reduced reactive oxygen species production in neutrophils, Poikiloderma, palmoplantar hyperkeratosis, nail toes abnormalities, multiple bone fractures and calcification, neutropenia, chronic haemolysis, recurrent infections since infancy, atrophic polychondritis 2 3 Ludovica Volpi
00057919 - PubMed: Colombo 2012, PubMed: Migliaccio 1999 - F no Italy white >22y - - - PN osteopetrosis at 2 months; increased bone density; sclerosis of vertebrae and skull; delayed skeletal maturation 2 1 Ludovica Volpi
00057920 - PubMed: Colombo 2012; PubMed: Altunay 2010 - M yes Turkey white >23y - - - PN Widespread poikiloderma, neutropenia, sun intolerance, erithema, saddle nose, maxillary hypoplasia, micrognathia, zygodactylya, osteopenia, recurrent leg ulcelrs with severe sepsis, low stature, hypogonadism. 2 1 Ludovica Volpi
00057921 - PubMed: Volpi 2010, PubMed: Concolino 2010 - M yes Italy white >25y - - - PN poikiloderma, non cyclic neutropenia, pachyonichia; midface hypoplasia, depressed nasal bridge, mild prognathism, frontal bossing, carious teeth, hyperlaxity of fingers, splenomegalia 2 2 Ludovica Volpi
00057922 - PubMed: Volpi 2010, PubMed: Concolino 2010 - F yes Italy white >20y - - - PN Midface Hypoplasia, Hypoplasia of lateral eyebrows, hypertelorism, hypermobile fingers with beak of swan appearance 2 2 Ludovica Volpi
00057923 - PubMed: Volpi 2010, PubMed: Concolino 2010 - F yes Italy white >18y - - - PN Microretrognathism, low posterior hairline, lateral hypoplasia of eyebrows, hypoplasia of nasal aleas, hypermobile fingers. Increased CPK and LDK. Myelodysplastic features. 2 2 Ludovica Volpi
00057924 - PubMed: Colombo 2012 - M yes Turkey white >11y - - - PN Poikiloderma, neutropenia, plantar hyperkeratosis with desquamation, pachyonychia, caries tendency, saddle nose, widening of femoral metaphysis, recurrent pulmonary infections, low stature (<3rd centile) 2 1 Ludovica Volpi
00057925 - PubMed: Colombo 2012 his mother had a miscarriage and an elder affected sister (not tested) died during infancy M yes Turkey white >18y - - - PN poikiloderma, neutropenia, palmoplantar and ear helixes hyperkeratosis, dry scalp hair, toe nails subungueal hyperkeratosis, delayed dental eruption, caries tendency, saddle short nose, flat broad face, caput quadratum, retrognathia, myelodysplasia, splenomegalia, recurrent pulmonary infections and meningitis, low stature (<3rd centile), hypogonadism. An affected elder sister (not tested) died during infancy 2 1 Ludovica Volpi
00057926 - PubMed: Pianigiani 2001, PubMed: Volpi 2010 Compound heterozygous affected patient F no Italy white >22y - - - PN Diffuse poikiloderma, severe neutropenia, recurrent infections (otitis, bronchitis and gastroenteritis), saddle nose, hypertelorism, short stature, palmoplantar hyperkeratosis, onychodystrophy, delayed bone maturation, moderate splenomegalia 2 2 Johan den Dunnen
00059215 - PubMed: Walne 2010 - F no - ? ? - - - PN diagnosed as affected with Rothmund-Thomson syndrome; poikiloderma (<2y), nail dystrophy, low neutrophil count, hypo-cellular bone marrow 1 1 Elisa Adele Colombo
00059218 - PubMed: Arnold 2010 The patient has an affected cousin, not molecularly tested. The mothers of the two cousins are sisters and the fathers are cousins. M ? - european mediterranean area in Montenegro >04y - - - PN poikiloderma on sun-exposed areas (arms, face and ears) and trunk; palmoplantar keratoderma; pachyonychia of the great toenails; photosensitivity; neutropenia; recurrent viral and bacterial infections; hepatosplenomegaly; nondescented or retractile testes; growth delay; elevated lactate dehydrogenase (>1000 U/L); transient thrombocytopenia; elevated ferritin (>1000 g/L) 1 1 Elisa Adele Colombo
00059219 - PubMed: Mostefai 2008, PubMed: Tanaka 2010, PubMed: Walne et al 2010 the patient has an affected sister and an affected Brother. F yes Morocco Moroccan >08y - - - PN poikiloderma, photosensitivity with blistering; atrophic scars on dorsum of limbs; pachyonychia on big toenails; palmoplantar keratosis; verrucous lesions; milia; carious teeth; lachrymal duct obstruction; recurrent bronchopneumonitis; recurrent otitis media; leukopenia and neutropenia; myeloid abnormalities; splenomegaly; chronic pulmonary infiltrates following chest X-rays. 1 1 Elisa Adele Colombo
00059220 - PubMed: Mostefai 2008, PubMed: Tanaka 2010, PubMed: Walne 2010 this patient has an affected sister (LOVD ID 59219) and an affected brother F yes Morocco Moroccan - - - - PN poikiloderma, photosensitivity with blistering; atrophic scars on dorsum of limbs; pachyonychia on big toenails; palmoplantar keratosis; carious teeth; lachrymal duct obstruction; recurrent bronchopneumonitis; recurrent otitis media; leukopenia and neutropenia; maturation defects in bone marrow lineages; splenomegaly; chronic pulmonary infiltrates following chest X-rays. 1 1 Elisa Adele Colombo
00059221 - PubMed: Mostefai 2008,PubMed: Tanaka 2010,PubMed: Walne 2010 the patient has two elder affected sisters (LOVD ID 59219 and 59220) M yes Morocco Moroccan - - - - PN poikiloderma, photosensitivity; atrophic scars on dorsum of limbs; verrucous lesions; milia; carious teeth; lachrymal duct obstruction; recurrent bronchopneumonitis; recurrent otitis media; transient thrombocytopenia and neutropenia; maturation defects in bone marrow lineages; chronic pulmonary infiltrates following chest X-rays. 1 1 Elisa Adele Colombo
00089040 - PubMed: Walne 2010 affected sibling is reported ? yes - - - - - - PN poikiloderma, nail dystrophy, abnormal ear, short stature, developmental delay, low white blood cells, MDS changes 1 1 Elisa Adele Colombo
00089042 - PubMed: Clericuzio 2011; PubMed: Chantorn 2012 patient has an affected brother M no India - >05y - - - PN Birth weight, length, and head circumference were all normal. A rash on lower legs and feet developed at approximately 10 months of age, then spread along the hands, forearms, thighs, buttock, ears and face. Poikiloderma spared the trunk, abdomen, and popliteal and antecubital fossae. Multiple infections, including rhinitis, otitis media and pneumonia since 1 year of age, were reported. Nail, hair, teeth, palms and soles were all normal. No hepatosplenomegaly. No osteopenia. Social and cognitive development were within normal limits. 1 1 Elisa Adele Colombo
00089055 - PubMed: Piard 2012 - F no - - >04y - - - PN generalized poikiloderma, which appeared in the first days of life, neutropenia, photosensitivity, dental dysplasia and nail dystrophy; no history of recurrent infections was reported; birth parameters were normal; no growth delay, no intellectual disability 2 1 Elisa Adele Colombo
00089060 - PubMed: Suter et al.2016 - ? ? - - - - - - PN poikiloderma, neutropenia, short stature, hypogonadotropic hypogonadism (on hormonal replacement therapy) and noncaseating granuloma involving the lungs with interstitial lung disease and bronchiectasis. 1 1 Elisa Adele Colombo
00089064 - PubMed: Clericuzio 2011 - F no - 6.25% Cherokee, 93,75% white >07y - - - PN Cutaneous rash started at 4 months of age, then evolved in poikiloderma; neutropenia; recurrent otitis media, bronchitis, cellulitis; pachyonychia; autoimmune thyroiditis; history of chronic diarrhea in infancy; calcinosis cutis. The patient received GCSF. Bone marrow studies were normal. 2 1 Elisa Adele Colombo
00090108 - PubMed: Walne 2010 - M yes - - - - - - PN poikiloderma; sparse eyelashes; dental problems; skeletal alterations; enlarged liver-spleen; phimosis; short stature; neutropenia; myelodysplastic changes 1 1 Elisa Adele Colombo
00090109 - PubMed: Clericuzio 2011 PubMed: Wang 2003 She has an affected fraternal twin Brother. F no Scotland - >04y - - - PN poikiloderma; neutropenia since Birth; recurrent sinopulmonary infections; hyperkeratosis; calcinosis cutis; nail dystrophy 2 1 Elisa Adele Colombo
00090110 - PubMed: Clericuzio 2011 - M ? United States Navajo - - - - PN cutaneous rash since age 5 m; neutropenia; transient thrombocytopenia; pachyonychia; chronic cough; history of diarrhea; normal bone marrow studies. 1 1 Elisa Adele Colombo
00090111 - PubMed: Farruggia 2014 - F no Italy - >03y - - - PN low Birth weight; cutaneous changes since age 6m then evolved in poikiloderma; neutropenia since age 41d; pachyonychia; hyperkeratosis; dysmorphic features (small nose, depressed nasal bridge, mild micrognathia, prominent forehead); sparse hair and eyebrows; failure to thrive and frequent regurgitations in early infancy. Bone marrow studies showed decreased cellularity and mild abnormal differentiation of myeloid and erythroid precursors. 1 1 Elisa Adele Colombo
00090113 - PubMed: Walne 2010 - F no - - - - - - PN poikiloderma; neutropenia; prominent forehead; dental problems. 1 1 Elisa Adele Colombo
00090114 - PubMed: Clericuzio 2011 - F ? (England) Turkish-British >04y - - patient received GCSF PN Poikiloderma started as a rash since age 3 m; neutropenia; pachyonychia; hyperkeratosis; cellulitis; mastoiditis; history of mild anemia; increased myeloid precursors in bone marrow. 1 1 Elisa Adele Colombo
00090115 - PubMed: Walne 2016 - M yes Afghanistan - - - - - PN poikiloderma; neutropenia; nail dystrophy; leukoplakia; abnormal facies; bone marrow failure; immunodeficiency. 1 1 Elisa Adele Colombo
00090116 - PubMed: Walne 2016 - F no Afghanistan - - - - - PN abnormal skin pigmentation; neutropenia, nail dystrophy; immune deficiency. 1 1 Elisa Adele Colombo
00154504 - PubMed: Aglaguel 2017 - F yes Morocco - >11y - - - PN poikiloderma, pachyonychia, palmoplantar hyperkeratosis, atrophic scars, sparse eyebrows, dental caries, failure to thrive, hypogonadism, delayed puberty, osteopenia, neutropenia, decreased NK cells, polyclonal hypergammaglobulinemia, recurrent pulmonary infections, bilateral bronchiectasis. 1 2 Elisa Adele Colombo
00154505 Patient 3, family 2 PubMed: Aglaguel 2017 - F yes Morocco - >13y - - - PN generalized poikiloderma, pachyonychia, palmoplantar hyperkeratosis, atrophic scars, failure to thrive, photosensitivity, hypogonadism, delayed peberty, neutropenia, decreased number of CD8 cells, bilateral bronchiectasis. 1 1 Elisa Adele Colombo
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