Immunodeficiency, and Squamous cell carcinoma

Diseases related with Immunodeficiency and Squamous cell carcinoma

In the following list you will find some of the most common rare diseases related to Immunodeficiency and Squamous cell carcinoma that can help you solving undiagnosed cases.

Top matches:

Idiopathic CD4 lymphocytopenia is a rare primary immunodeficiency disorder characterized by persistent CD4 T-cell lymphopenia (less than 300 cells/µL on multiple occasions) not associated with any other underlying primary or secondary immune deficiency. Patients typically present opportunistic infections (with cryptococcal, mycobacterial, candidal, varicella zoster virus infections and progressive multifocal leukoencephalopathy being the most prevalent), malignancies (mainly lymphoproliferative disorders), or autoimmune disorders. Some individuals are asymptomatic and incidentally diagnosed.

IDIOPATHIC CD4 LYMPHOCYTOPENIA Is also known as icl|idiopathic cd4 lymphopenia

Related symptoms:

  • Neoplasm
  • Anemia
  • Immunodeficiency
  • Pneumonia
  • Carcinoma


SOURCES: OMIM ORPHANET MENDELIAN

More info about IDIOPATHIC CD4 LYMPHOCYTOPENIA

Hyper-IgE recurrent infection syndrome is a primary immunodeficiency disorder characterized by chronic eczema, recurrent Staphylococcal infections, increased serum IgE, and eosinophilia. Patients have a distinctive coarse facial appearance, abnormal dentition, hyperextensibility of the joints, and bone fractures (Buckley et al., 1972; Grimbacher et al., 1999).

HYPER-IGE RECURRENT INFECTION SYNDROME, AUTOSOMAL DOMINANT Is also known as hies, autosomal dominant|hyper-ige syndrome, autosomal dominant|job syndrome

Related symptoms:

  • Scoliosis
  • Hypertelorism
  • Strabismus
  • High palate
  • Wide nasal bridge


SOURCES: OMIM MENDELIAN

More info about HYPER-IGE RECURRENT INFECTION SYNDROME, AUTOSOMAL DOMINANT

Autoimmune enteropathy and endocrinopathy-susceptibility to chronic infections syndrome is an extremely rare, autosomal dominant immunological disorder characterized by variable enteropathy, endocrine disorders (e.g. type 1 diabetes mellitus, hypothyroidism), immune dysregulation with pulmonary and blood-borne bacterial infections, and fungal infections (chronic mucocutaneous candidiasis) developing in infancy. Other manifestations include short stature, eczema, hepatosplenomegaly, delayed puberty, and osteoporosis/osteopenia.

AUTOIMMUNE ENTEROPATHY AND ENDOCRINOPATHY-SUSCEPTIBILITY TO CHRONIC INFECTIONS SYNDROME Is also known as candf7|candidiasis, familial, 7|candidiasis, familial chronic mucocutaneous, autosomal dominant

Related symptoms:

  • Global developmental delay
  • Short stature
  • Growth delay
  • Anemia
  • Diarrhea


SOURCES: ORPHANET OMIM MENDELIAN

More info about AUTOIMMUNE ENTEROPATHY AND ENDOCRINOPATHY-SUSCEPTIBILITY TO CHRONIC INFECTIONS SYNDROME

Other less relevant matches:

Hermansky-Pudlak syndrome (HPS) is a rare autosomal recessive disorder in which oculocutaneous albinism, bleeding, and lysosomal ceroid storage result from defects of multiple cytoplasmic organelles: melanosomes, platelet-dense granules, and lysosomes (Oh et al., 1998). Genetic Heterogeneity of Hermansky-Pudlak SyndromeHPS2 (OMIM ) is caused by mutation in the AP3B1 gene (OMIM ) on chromosome 5q14. HPS3 (OMIM ) is caused by mutation in the HSP3 gene (OMIM ) on chromosome 3q24. HPS4 (OMIM ) is caused by mutation in the HSP4 gene (OMIM ) on chromosome 22q12. HPS5 (OMIM ) is caused by mutation in the HPS5 gene (OMIM ) on chromosome 11p14. HPS6 (OMIM ) is caused by mutation in the HPS6 gene (OMIM ) on chromosome 10q24. HPS7 (OMIM ) is caused by mutation in the DTNBP1 gene (OMIM ) on chromosome 6p22. HPS8 (OMIM ) is caused by mutation in the BLOC1S3 gene (OMIM ) on chromosome 19q13. HPS9 (OMIM ) is caused by mutation in the PLDN gene (OMIM ) on chromosome 15q21. HPS10 (OMIM ) is caused by mutation in the AP3D1 gene (OMIM ) on chromosome 19p13.

HERMANSKY-PUDLAK SYNDROME 1; HPS1 Is also known as delta storage pool disease|albinism with hemorrhagic diathesis and pigmented reticuloendothelial cells

Related symptoms:

  • Nystagmus
  • Strabismus
  • Cataract
  • Visual impairment
  • Myopia


SOURCES: ORPHANET MESH OMIM MENDELIAN

More info about HERMANSKY-PUDLAK SYNDROME 1; HPS1

Medium match BLOOM SYNDROME

Bloom syndrome (BSyn) is a rare chromosomal breakage syndrome characterized by a marked genetic instability associated with pre- and postnatal growth retardation, facial sun-sensitive telangiectatic erythema, increased susceptibility to infections, and predisposition to cancer.

BLOOM SYNDROME Is also known as bls|microcephaly, growth restriction, and increased sister chromatid exchange 1|bs|bsyn|mgrisce1

Related symptoms:

  • Short stature
  • Microcephaly
  • Growth delay
  • Neoplasm
  • Failure to thrive


SOURCES: ORPHANET OMIM MESH MENDELIAN

More info about BLOOM SYNDROME

Dyskeratosis congenita (DC) is a rare ectodermal dysplasia that often presents with the classic triad of nail dysplasia, skin pigmentary changes, and oral leukoplakia associated with a high risk of bone marrow failure (BMF) and cancer.

DYSKERATOSIS CONGENITA Is also known as dkc|dc|dyskeratosis congenita, scoggins type|zinsser-engman-cole syndrome

Related symptoms:

  • Global developmental delay
  • Short stature
  • Hearing impairment
  • Microcephaly
  • Scoliosis


SOURCES: ORPHANET MESH OMIM MENDELIAN

More info about DYSKERATOSIS CONGENITA

Hoyeraal-Hreidarsson syndrome (HHS) is a very rare X-linked recessive disorder considered to be a severe variant of dyskeratosis congenita (see this term) characterized by intrauterine growth retardation, microcephaly, cerebellar hypoplasia, progressive combined immune deficiency and aplastic anemia.

HOYERAAL-HREIDARSSON SYNDROME Is also known as progressive pancytopenia-immunodeficiency-cerebellar hypoplasia syndrome|zinsser-cole-engman syndrome

Related symptoms:

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Short stature
  • Generalized hypotonia


SOURCES: ORPHANET OMIM MENDELIAN

More info about HOYERAAL-HREIDARSSON SYNDROME

Cartilage-hair hypoplasia is a disease affecting the bone metaphyses causing small stature from birth.

CARTILAGE-HAIR HYPOPLASIA Is also known as autosomal recessive metaphyseal chondrodysplasia|metaphyseal chondrodysplasia, mckusick type

Related symptoms:

  • Intellectual disability
  • Short stature
  • Scoliosis
  • Growth delay
  • Neoplasm


SOURCES: OMIM ORPHANET MENDELIAN

More info about CARTILAGE-HAIR HYPOPLASIA

Combined immunodeficiency due to OX40 deficiency is a rare combined T and B cell immunodeficiency characterized by susceptibility to develop an aggressive, childhood-onset, disseminated, cutaneous and systemic Kaposi sarcoma.

COMBINED IMMUNODEFICIENCY DUE TO OX40 DEFICIENCY Is also known as combined immunodeficiency with childhood-onset kaposi sarcoma|combined immunodeficiency with impaired immunity to human herpes virus 8|combined immunodeficiency with impaired immunity to hhv-8|ox40 deficiency

Related symptoms:

  • Splenomegaly
  • Immunodeficiency
  • Respiratory tract infection
  • Pancytopenia
  • Sarcoma


SOURCES: ORPHANET OMIM MENDELIAN

More info about COMBINED IMMUNODEFICIENCY DUE TO OX40 DEFICIENCY

SEVERE COMBINED IMMUNODEFICIENCY DUE TO CORO1A DEFICIENCY Is also known as severe combined immunodeficiency due to coronin-1a deficiency|scid due to coro1a deficiency|scid due to coronin-1a deficiency

Related symptoms:

  • Seizures
  • Global developmental delay
  • Anemia
  • Immunodeficiency
  • Recurrent infections


SOURCES: ORPHANET OMIM MENDELIAN

More info about SEVERE COMBINED IMMUNODEFICIENCY DUE TO CORO1A DEFICIENCY

Top 5 symptoms//phenotypes associated to Immunodeficiency and Squamous cell carcinoma

Symptoms // Phenotype % cases
Anemia Common - Between 50% and 80% cases
Recurrent infections Common - Between 50% and 80% cases
Lymphoma Common - Between 50% and 80% cases
Neoplasm Uncommon - Between 30% and 50% cases
Hodgkin lymphoma Uncommon - Between 30% and 50% cases

Other less frequent symptoms

Patients with Immunodeficiency and Squamous cell carcinoma. may also develop some of the following symptoms:

Uncommon Symptoms - Between 30% and 50% cases

Growth delay Lymphopenia Pneumonia Short stature Global developmental delay Bronchiectasis Abnormality of the dentition Pulmonary fibrosis Thrombocytopenia Carcinoma Leukemia Recurrent respiratory infections Strabismus Splenomegaly Delayed skeletal maturation Diabetes mellitus Cardiomyopathy Abnormal intestine morphology Cataract Visual impairment Pancytopenia Hyperhidrosis Malabsorption Hypopigmentation of the skin Gastrointestinal hemorrhage Intrauterine growth retardation Failure to thrive Microcephaly Alopecia Diarrhea Sinusitis Scoliosis Osteoporosis Aplastic anemia Inflammatory abnormality of the skin Otitis media

Rare Symptoms - Less than 30% cases

Seizures Premature loss of teeth Cryptorchidism Abnormality of chromosome stability Sepsis Testicular atrophy Intellectual disability Chromosome breakage Ridged nail Wide nasal bridge Respiratory tract infection Dilatation Papilloma Abnormality of the skeletal system Constipation Hepatosplenomegaly Inflammation of the large intestine Squamous cell carcinoma of the skin Recurrent sinusitis Myopia Oral leukoplakia Opportunistic infection Decreased antibody level in blood Sparse eyelashes Specific learning disability Hyperkeratosis Postnatal growth retardation Telangiectasia Acute myeloid leukemia Autoimmune hemolytic anemia Severe short stature Sacral dimple Hypopigmented skin patches Neutropenia Blepharitis Telangiectasia of the skin Myeloid leukemia Prominent forehead Bronchiolitis Eczema Joint hypermobility Chronic mucocutaneous candidiasis Restrictive ventilatory defect Premature graying of hair Epiphora Urethral stenosis Cerebral calcification Osteopenia Prominent nose Hyperpigmentation of the skin Myelodysplasia Bone marrow hypocellularity Recurrent fractures Skin ulcer Neoplasm of the skin Dermal atrophy Basal cell carcinoma Skin rash Reticular hyperpigmentation Recurrent sinopulmonary infections Hearing impairment B-cell lymphoma Ataxia Hepatomegaly Erythema Cellular immunodeficiency Cerebellar hypoplasia Abnormality of coagulation Sparse hair Nail dystrophy Carious teeth B lymphocytopenia Abnormality of skin pigmentation Decrease in T cell count Cirrhosis Hemolytic anemia Increased antibody level in blood Flared metaphysis Neonatal respiratory distress Brittle scalp hair Keratoconjunctivitis Generalized hyperpigmentation Anal mucosal leukoplakia Excessive wrinkled skin Pterygium of nails Esophageal stricture Fragile teeth Split nail Lacrimal duct stenosis Generalized hypopigmentation of hair Abnormality of the testis Pancreatic adenocarcinoma Abnormal leukocyte morphology Phimosis Reticulated skin pigmentation Respiratory distress Pterygium Congenital bullous ichthyosiform erythroderma Absent lacrimal punctum Abnormality of female internal genitalia Esophageal stenosis Cognitive impairment Palmar hyperkeratosis Displacement of the external urethral meatus Anorectal anomaly Optic atrophy Nail pits Rough bone trabeculation Porokeratosis Aplastic/hypoplastic toenail Interstitial pneumonitis Abnormality of neutrophils Generalized hypotonia Ventriculomegaly Anosmia Oligohydramnios Leukopenia Conjunctivitis Horseshoe kidney Truncal ataxia Sparse scalp hair Decreased fetal movement Decreased testicular size Abnormality of the pharynx Gliosis Small for gestational age Muscular hypotonia of the trunk Cerebral cortical atrophy Hyporeflexia Hypospadias Hypertonia Muscular hypotonia Lumbar hyperlordosis Depressed nasal bridge Abnormality of the pancreas Large face Hypersplenism Normocytic anemia Mucopolysacchariduria Abnormal diaphysis morphology Diaphyseal thickening Metaphyseal cupping Metaphyseal chondrodysplasia Aplasia/Hypoplasia affecting the eye Aplasia/Hypoplasia of the abdominal wall musculature Generalized joint laxity Congenital hypoplastic anemia Tracheal stenosis Fair hair Heart block Upper limb undergrowth Overweight Thrombocytosis Exocrine pancreatic insufficiency Distal arthrogryposis Esophageal atresia Hypoplasia of the odontoid process Anal stenosis Spinal dysraphism Neonatal short-limb short stature Metaphyseal dysplasia Abnormality of humoral immunity Lymphoproliferative disorder Lymphadenopathy Attention deficit hyperactivity disorder Hyperactivity Kaposi's sarcoma Coombs-positive hemolytic anemia Sarcoma Pulmonary lymphoma Susceptibility to chickenpox Flaring of lower rib cage Absent pubertal growth spurt Biconvex vertebral bodies Abnormal bone ossification Severe T-cell immunodeficiency Sparse facial hair Impaired lymphocyte transformation with phytohemagglutinin Metaphyseal dysostosis Non-Hodgkin lymphoma Long fibula Narrow vertebral interpedicular distance Abnormality of the distal phalanx of finger Abnormal T cell morphology Hypoplastic anemia Abnormally ossified vertebrae Macrocytic anemia High hypermetropia Hypertension Pectus carinatum Periodontitis Abnormality of the ribs Convex nasal ridge Postural instability Small hand Short palm Micromelia Joint hyperflexibility Narrow chest Hypotrichosis Arthrogryposis multiplex congenita Abnormal cardiac septum morphology Fine hair Hyperlordosis Low-set, posteriorly rotated ears Joint laxity EEG abnormality Skeletal dysplasia Macrotia Brachycephaly Short neck Respiratory insufficiency Anteverted nares Epicanthus Blue sclerae Depressed nasal ridge Abnormality of the hip bone Reduced tendon reflexes Tibial bowing Limited elbow extension Femoral bowing Mesomelia Short thorax Cone-shaped epiphysis Metaphyseal widening Portal hypertension Genu varum Abnormality of pelvic girdle bone morphology Disproportionate short-limb short stature Abnormal palate morphology Abnormality of the metaphysis Accelerated skeletal maturation Hypocalcemia Short ribs Sparse and thin eyebrow Gingival overgrowth Abnormality of retinal pigmentation Rhizomelia Abnormality of epiphysis morphology Aganglionic megacolon Bowing of the long bones Abnormal form of the vertebral bodies White hair Chronic lung disease Taurodontia Recurrent upper respiratory tract infections Abnormality of the endocrine system Dilatation of the cerebral artery Hashimoto thyroiditis Pulmonary embolism Autoimmune thrombocytopenia Thyroiditis Patent foramen ovale Encephalitis Leukoencephalopathy Generalized osteoporosis Purpura Type I diabetes mellitus Pulmonary arterial hypertension Hepatitis Delayed puberty Autoimmunity Hypothyroidism Congestive heart failure Villous atrophy Immune dysregulation Squamous cell carcinoma of the vulva Esophageal carcinoma Weight loss Abdominal pain Renal insufficiency Blindness Fatigue Nystagmus Abnormal serum interferon-gamma level Medial calcification of large arteries Oropharyngeal squamous cell carcinoma Enterocolitis Susceptibility to herpesvirus Recurrent Aspergillus infections Carotid artery dilatation Functional abnormality of the bladder Autoimmune neutropenia Renal artery stenosis Renovascular hypertension Antiphospholipid antibody positivity Primary hypothyroidism Impaired neutrophil chemotaxis Anal canal squamous carcinoma Photophobia Coarse facial features Thick lower lip vermilion Asthma Wide nose Facial asymmetry Pruritus Cough Craniosynostosis Deeply set eye Mandibular prognathia Recurrent bacterial infections Dysphagia Frontal bossing High palate Hypertelorism Bronchiolitis obliterans organizing pneumonia Bronchiolitis obliterans Psoriasiform dermatitis Recurrent otitis media Hemivertebrae Eosinophilia Lung abscess Fractures of the long bones Recurrent candida infections Recurrent Staphylococcus aureus infections Severe viral infections Onychomycosis Recurrent bacterial skin infections Eczematoid dermatitis T-cell lymphoma Recurrent fungal infections Persistence of primary teeth Recurrent skin infections Red hair Increased IgE level Verrucae Hemihypertrophy Recurrent bronchitis Atopic dermatitis Bronchitis Chronic otitis media Urticaria Dyspnea Astigmatism Abnormal eyebrow morphology IgA deficiency Decreased fertility in females IgM deficiency Abnormality of the nose Chronic obstructive pulmonary disease Hypoplastic pelvis Hypoplasia of the zygomatic bone Acute leukemia IgG deficiency High pitched voice Spotty hypopigmentation Hand polydactyly Reduced number of teeth Azoospermia Narrow face Cafe-au-lait spot Abnormality of the face Hypertrichosis Cutaneous photosensitivity Female infertility Spotty hyperpigmentation Abnormality of the skin Tracheoesophageal fistula Neoplasm of the pancreas Abnormal eyelash morphology Aseptic necrosis Aplasia/Hypoplasia of the skin Skin vesicle Macule Neurofibromas Hypermelanotic macule Abnormality of the fingernails Neoplasm of the gastrointestinal tract Hepatic fibrosis Abnormal blistering of the skin Nail dysplasia Hypoplasia of the maxilla Hypodontia Palmoplantar keratoderma Hepatic failure Facial telangiectasia in butterfly midface distribution Agenesis of maxillary lateral incisor Type II diabetes mellitus Ichthyosis Bruising susceptibility Abnormality of dental enamel Hypopigmentation of hair Freckling Colitis Prolonged bleeding time Albinism Melanocytic nevus Melanoma Acanthosis nigricans Abnormality of the hair Severe vision loss Amblyopia Anorexia Long eyelashes Thickened skin Abnormal lung morphology Epistaxis Epidermal acanthosis Nevus Abnormal bleeding Iris hypopigmentation Gingival bleeding Infertility Intellectual disability, mild Dolichocephaly Finger syndactyly Protruding ear Polydactyly Clinodactyly of the 5th finger Syndactyly Malar flattening Short nose Micrognathia Abnormality of visual evoked potentials Freckles in sun-exposed areas Menometrorrhagia Partial albinism Impaired platelet aggregation Abnormal thrombocyte morphology Ulcerative colitis Abnormality of the optic nerve Hematochezia Ocular albinism Decreased proportion of CD4-positive T cells


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