Immunodeficiency, and Papule

Diseases related with Immunodeficiency and Papule

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

Top matches:

Medium match KAPOSI SARCOMA

Kaposi sarcoma (KS) is a rare human herpes virus 8 (HHV-8)-induced endothelial inflammatory neoplasm that develops is various clinically distinct settings, manifesting mostly as cutaneous lesions, or mucosal or visceral involvement.

KAPOSI SARCOMA Is also known as multiple idiopathic pigmented hemangiosarcoma, susceptibility to

Related symptoms:

  • Neoplasm
  • Hypertension
  • Fever
  • Fatigue
  • Edema


SOURCES: OMIM ORPHANET MENDELIAN

More info about KAPOSI SARCOMA

Chronic mucocutaneous candidosis (CMC) refers to a group of heterogenous disorders characterized by persistent, debilitating and/or recurrent infections of the skin, nails, and mucus membranes, mainly with the fungal pathogen Candida albicans.

CHRONIC MUCOCUTANEOUS CANDIDIASIS Is also known as card9 immunodeficiency|candidiasis, familial chronic mucocutaneous, autosomal recessive|cmc

Related symptoms:

  • Seizures
  • Fever
  • Behavioral abnormality
  • Immunodeficiency
  • Headache


SOURCES: OMIM ORPHANET MENDELIAN

More info about CHRONIC MUCOCUTANEOUS CANDIDIASIS

Low match OMENN SYNDROME

Omenn syndrome (OS) is an inflammatory condition characterized by erythroderma, desquamation, alopecia, chronic diarrhea, failure to thrive, lymphadenopathy, and hepatosplenomegaly, associated with severe combined immunodeficiency (SCID; see this term).

OMENN SYNDROME Is also known as combined immunodeficiency with hypereosinophilia|reticuloendotheliosis, familial, with eosinophilia|severe combined immunodeficiency with hypereosinophilia

Related symptoms:

  • Failure to thrive
  • Anemia
  • Hepatomegaly
  • Fever
  • Edema


SOURCES: ORPHANET OMIM MENDELIAN

More info about OMENN SYNDROME

Other less relevant matches:

Vasculitis due to ADA2 deficiency is a rare, genetic, systemic and rheumatologic disease due to adenosine deaminase-2 inactivating mutations, combining variable features of autoinflammation, vasculitis, and a mild immunodeficiency. Variable clinical presentation includes chronic or recurrent systemic inflammation with fever, livedo reticularis or racemosa, early-onset ischemic or hemorrhagic strokes, peripheral neuropathy, abdominal pain, hepatosplenomegaly, portal hypertension, cutaneous polyarteritis nodosa, variable cytopenia and immunoglobulin deficiency.

VASCULITIS DUE TO ADA2 DEFICIENCY Is also known as ada2 deficiency|vasculitis due to dada2

Related symptoms:

  • Ataxia
  • Pain
  • Anemia
  • Hypertension
  • Peripheral neuropathy


SOURCES: OMIM ORPHANET MENDELIAN

More info about VASCULITIS DUE TO ADA2 DEFICIENCY

Low match NEVUS OF ITO

Nevus of Ito is a benign dermal melanocytosis occurring most frequently in the Asian populations and characterized by unilateral, asymptomatic, blue, gray or brown skin pigmentation within the acromioclavicular and upper chest area (involving the side of the neck, the supraclavicular and scapular areas, and the shoulder region). It is usually diagnosed in early infancy and in early adolescence. Nevus of Ito may progressively enlarge and darken in color (particularly with puberty) and its appearance usually remains stable once adulthood is reached. Spontaneous regression does not occur. Malignant melanoma has rarely been reported within a nevus of Ito. It shares the clinical features of nevus of Ota, except its anatomic location and in rare occasions, mayoccur together with the latter.

NEVUS OF ITO Is also known as incontinentia pigmenti, familial male-lethal type|nevus fuscocaeruleus acromiodeltoideus|ip2, formerly|bloch-sulzberger syndrome|incontinentia pigmenti, type ii, formerly

Related symptoms:

  • Intellectual disability
  • Seizures
  • Short stature
  • Microcephaly
  • Neoplasm


SOURCES: ORPHANET OMIM MENDELIAN

More info about NEVUS OF ITO

Ichthyosis follicularis - alopecia - photophobia (IFAP) is a rare genetic disorder characterized by the triad of ichthyosis follicularis, alopecia, and photophobia from birth.

ICHTHYOSIS FOLLICULARIS-ALOPECIA-PHOTOPHOBIA SYNDROME Is also known as ichthyosis follicularis-atrichia-photophobia syndrome|ifap syndrome|ichthyosis follicularis, atrichia, and photophobia with or without brain anomalies, retardation, ectodermal dysplasia, skeletal malformations, hirschsprung disease, ear/eye anomalies, cle

Related symptoms:

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Short stature
  • Hearing impairment


SOURCES: ORPHANET OMIM MENDELIAN

More info about ICHTHYOSIS FOLLICULARIS-ALOPECIA-PHOTOPHOBIA SYNDROME

Low match COWDEN SYNDROME

Cowden syndrome (CS) is a difficult to recognize, under-diagnosed genodermatosis characterized by the presence of multiple hamartomas in various tissues and an increased risk for malignancies of the breast, thyroid, endometrium, kidney and colorectum. When CS is accompanied by germline PTEN mutations, it belongs to the PTEN hamartoma tumor syndrome (PHTS; see this term) group.

COWDEN SYNDROME Is also known as bzs|cowden disease|bbrs|macrocephaly, multiple lipomas, and hemangiomata|pten hamartoma tumor syndrome with granular cell tumor|bannayan-zonana syndrome|macrocephaly, pseudopapilledema, and multiple hemangiomata|cs|cd|mham|pten hamartoma tumor syndrome|ri

Related symptoms:

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


SOURCES: ORPHANET OMIM MENDELIAN

More info about COWDEN SYNDROME

Mendelian susceptibility to mycobacterial diseases (MSMD) due to complete interleukin-12 subunit beta (IL12B) deficiency is a genetic variant of MSMD (see this term) characterized by mild bacillus Calmette-Guérin (BCG) infections and recurrent Salmonella infections.

MENDELIAN SUSCEPTIBILITY TO MYCOBACTERIAL DISEASES DUE TO COMPLETE IL12B DEFICIENCY Is also known as mendelian susceptibility to mycobacterial diseases due to complete interleukin 12b deficiency|msmd due to complete interleukin 12b deficiency|msmd due to complete il12b deficiency|il12b deficiency

Related symptoms:

  • Immunodeficiency
  • Lymphadenopathy


SOURCES: ORPHANET OMIM MENDELIAN

More info about MENDELIAN SUSCEPTIBILITY TO MYCOBACTERIAL DISEASES DUE TO COMPLETE IL12B DEFICIENCY

IMMUNODEFICIENCY, COMMON VARIABLE, 5; CVID5 Is also known as antibody deficiency due to cd20 defect

Related symptoms:

  • Immunodeficiency
  • Recurrent respiratory infections
  • Respiratory tract infection
  • Decreased antibody level in blood
  • Recurrent bacterial infections


SOURCES: OMIM MENDELIAN

More info about IMMUNODEFICIENCY, COMMON VARIABLE, 5; CVID5

Pyogenic bacterial infection due to MyD88 deficiency is a primary immunodeficiency characterized by increased susceptibility to pyogenic bacterial infections, including invasive pneumococcal, invasive staphylococcal and pseudomonas disease.

PYOGENIC BACTERIAL INFECTIONS DUE TO MYD88 DEFICIENCY Is also known as myd88 deficiency|pyogenic bacterial infections, recurrent, due to myd88 deficiency|recurrent pyogenic bacterial infections due to myd88 deficiency

Related symptoms:

  • Fever
  • Immunodeficiency
  • Recurrent bacterial skin infections


SOURCES: MESH OMIM ORPHANET MENDELIAN

More info about PYOGENIC BACTERIAL INFECTIONS DUE TO MYD88 DEFICIENCY

Top 5 symptoms//phenotypes associated to Immunodeficiency and Papule

Symptoms // Phenotype % cases
Fever Common - Between 50% and 80% cases
Skin rash Uncommon - Between 30% and 50% cases
Lymphadenopathy Uncommon - Between 30% and 50% cases
Seizures Uncommon - Between 30% and 50% cases
Recurrent infections Uncommon - Between 30% and 50% cases

Other less frequent symptoms

Patients with Immunodeficiency and Papule. may also develop some of the following symptoms:

Uncommon Symptoms - Between 30% and 50% cases

Failure to thrive Alopecia Cellular immunodeficiency Erythema Recurrent bacterial infections Dilatation Decreased antibody level in blood Hyperkeratosis Recurrent respiratory infections Intellectual disability Headache Neoplasm Short stature Diarrhea Lymphoma

Rare Symptoms - Less than 30% cases

Severe short stature Scaling skin Eosinophilia Chronic diarrhea Hypotrichosis Global developmental delay Hepatosplenomegaly Hypothyroidism Pneumonia Leukocytosis Hearing impairment Splenomegaly Hepatomegaly Microcephaly Scoliosis Abnormality of temperature regulation Recurrent fungal infections Cheilitis Erythroderma Hemangioma Combined immunodeficiency Edema Palmoplantar keratoderma Cataract Microphthalmia Scarring Nail dystrophy Cutis marmorata Ectodermal dysplasia Nail dysplasia Hemivertebrae Myopia Keratitis Optic atrophy Pain Ataxia Uveitis Abnormality of the vasculature Hashimoto thyroiditis Thyroiditis Hypertension Dry skin Anemia Abnormality of dental enamel Frontal bossing Generalized lymphadenopathy Abnormality of the liver Pruritus Abnormality of the kidney Neoplasm of the skin Eczema Epidermal acanthosis Inflammatory abnormality of the skin Respiratory tract infection Abnormality of the nail Lymphedema Macule Kyphosis Macrocephaly Intellectual disability, mild Generalized hypotonia Abnormality of the hair Unilateral chest hypoplasia Plagiocephaly Ichthyosis follicularis Abnormal pelvis bone morphology Pectus excavatum Thin fingernail Abnormality of the hand Urticaria Abnormal vertebral morphology Scleritis Psoriasiform dermatitis Myopathy Micrognathia Hypertelorism Motor delay Multicystic kidney dysplasia Downslanted palpebral fissures Skeletal muscle atrophy Tremor Hydrocephalus Brachydactyly Delayed speech and language development Atrial septal defect Unilateral renal agenesis High palate Cognitive impairment Low-set ears Muscle weakness Opacification of the corneal stroma Conjunctivitis Alopecia of scalp Hypoplasia of the bladder Follicular hyperkeratosis Hypohidrosis Mixed hearing impairment Absent septum pellucidum Abnormality of the vertebral column Congenital ichthyosiform erythroderma Atonic seizures Omphalocele Corneal erosion Hypoplastic fingernail Abnormal eyelid morphology Absent eyelashes Ectrodactyly Abnormal eyelash morphology Oligodactyly Submucous cleft hard palate Parakeratosis Blepharitis Heat intolerance Recurrent corneal erosions Hypoplasia of dental enamel Abnormality of the upper urinary tract Cerebral cortical hemiatrophy Paronychia Episcleritis Abnormal nasolacrimal system morphology Subcortical cerebral atrophy Corneal scarring Renal dysplasia Aganglionic megacolon Bifid scrotum Olivopontocerebellar atrophy Intestinal obstruction Absent eyebrow Alopecia universalis Oxycephaly Choanal atresia Thin eyebrow Alopecia totalis Hydroureter Hyperconvex fingernails Hypopigmented skin patches Autism Enlarged polycystic ovaries Subcutaneous lipoma Colonic diverticula Adenoma sebaceum Decreased proportion of CD4-positive T cells Neoplasm of the central nervous system Generalized hyperkeratosis Fibroma Hamartomatous polyposis Papilloma Cavernous hemangioma Angioid streaks of the fundus Long penis Bone cyst Intestinal polyposis Ovarian cyst Astrocytoma Abnormality of the uterus Furrowed tongue Arteriovenous malformation Hydrocele testis Abnormality of the penis Ovarian carcinoma Megalencephaly Fibroadenoma of the breast Lobular carcinoma in situ Multiple trichilemmomata Merkel cell skin cancer Ductal carcinoma in situ Conjunctival hamartoma Dysplastic gangliocytoma of the cerebellum Trichilemmoma Enlarged cerebellum Cutis marmorata telangiectatica congenita Neoplasm of the thyroid gland Intestinal polyp Transitional cell carcinoma of the bladder Acrokeratosis Mucosal telangiectasiae Pseudopapilledema Progressive macrocephaly Colorectal polyposis Endometrial carcinoma Follicular thyroid carcinoma Varicocele Thyroid adenoma Meningioma Skin tags Narrow mouth Intention tremor Drooling Cranial nerve paralysis Lymphopenia Gynecomastia Cafe-au-lait spot Exotropia Telangiectasia Subcutaneous nodule Broad thumb Overgrowth Oligohydramnios Macroglossia Abnormal cerebellum morphology Hypoplasia of the maxilla Polymicrogyria Joint hypermobility Nausea and vomiting Leukemia Intellectual disability, moderate Carcinoma Proximal muscle weakness Increased intracranial pressure Melanoma Prolactin excess Multiple cafe-au-lait spots Papilledema Lipoma Scaphocephaly Renal cell carcinoma Hodgkin lymphoma Ovarian neoplasm Hyperthyroidism Hamartoma Acute myeloid leukemia Cellulitis Breast carcinoma Cystic hygroma Multiple lipomas Abnormality of the thyroid gland Melanocytic nevus Hand polydactyly Intracranial hemorrhage Dysdiadochokinesis Incoordination Palmoplantar hyperkeratosis Goiter Abnormality of the ribs Flexion contracture Postaxial hand polydactyly Aplasia/Hypoplasia of the eyebrow Abnormal lymphocyte morphology Protracted diarrhea B lymphocytopenia Metaphyseal chondrodysplasia Hypoplasia of the thymus Recurrent viral infections Hypoproteinemia Severe combined immunodeficiency Disproportionate short-limb short stature Severe B lymphocytopenia Shock Increased body weight Short toe Thickened skin Abnormality of the metaphysis Nephrotic syndrome Sepsis Autoimmunity Desquamation of skin soon after birth Peripheral neuropathy Chronic oral candidiasis Vasculitis Elevated erythrocyte sedimentation rate Aphasia Agitation Cerebral hemorrhage Hemiplegia Ischemic stroke Leukopenia Purpura Foot dorsiflexor weakness Abdominal pain Hemiparesis Pancytopenia Paraplegia Ophthalmoplegia Stroke Arthritis Myalgia Elevated hepatic transaminase Thrombocytopenia Broad nail Raynaud phenomenon Abnormality of the gastrointestinal tract Neoplasm by anatomical site Susceptibility to herpesvirus Skin plaque Venous insufficiency Skin nodule Abnormality of the spleen Lymphoproliferative disorder Abnormality of the lower limb Abnormal retinal morphology Abnormality of the eye Hypermelanotic macule Sarcoma Abnormal lung morphology Pulmonary arterial hypertension Gastrointestinal hemorrhage Weight loss Encephalopathy Fatigue Behavioral abnormality Feeding difficulties in infancy Dyspareunia Hemoptysis Abnormal lip morphology Onychomycosis Abnormal endocardium morphology Lichenification Abnormal vagina morphology Chronic mucocutaneous candidiasis Abnormal toenail morphology Abnormality of the mouth Abnormality of blood and blood-forming tissues Cough Abnormality of the immune system Abnormality of vision Abnormality of the fingernails Meningitis Skin ulcer Recurrent urinary tract infections Hepatitis Abnormality of the skin Hematuria Thrombocytosis Hypercoagulability Specific learning disability Feeding difficulties Delayed skeletal maturation Inguinal hernia Hernia Intellectual disability, severe Hypoplasia of the corpus callosum Respiratory distress Ventriculomegaly Intrauterine growth retardation Cryptorchidism Agenesis of corpus callosum Cleft palate Muscular hypotonia Nystagmus Growth delay Atrophic, patchy alopecia Retinal vascular proliferation Hyperpigmented streaks Nail pits Cerebellar hypoplasia Dementia Hypohidrotic ectodermal dysplasia Corneal opacity Brain atrophy Postaxial polydactyly Pulmonary hypoplasia Ichthyosis Astigmatism Talipes Platyspondyly Hip dislocation Camptodactyly of finger Hyperhidrosis Developmental regression Camptodactyly Mental deterioration Hydronephrosis Photophobia Umbilical hernia Macrotia Polydactyly Cerebral cortical atrophy Retinal hemorrhage Scarring alopecia of scalp Immune dysregulation Spasticity Abnormality of skin pigmentation Malabsorption Sparse hair Pallor Kyphoscoliosis Visual loss Abnormality of the dentition Visual impairment Strabismus Delayed eruption of teeth Central retinal artery occlusion Retinal arterial occlusion Lupus anticoagulant Pure red cell aplasia Panniculitis Antiphospholipid antibody positivity Erythema nodosum Granulocytopenia Retinal detachment Hypopigmentation of the skin Supernumerary ribs Pustule Breast aplasia Breast hypoplasia Generalized osteosclerosis Thick nail Ridged nail Conical tooth Anodontia Hypoplasia of the fovea Hypoplastic nipples Hypodontia Supernumerary nipple Hyperostosis Coarse hair Increased bone mineral density Hyperpigmentation of the skin Fine hair Abnormal blistering of the skin Nevus Tetraplegia Recurrent bacterial skin infections


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