Immunodeficiency, and Ectodermal dysplasia

Diseases related with Immunodeficiency and Ectodermal dysplasia

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

Top matches:

This syndrome is characterized by severe immunodeficiency, osteopetrosis, lymphedema and anhidrotic ectodermal dysplasia.

ANHIDROTIC ECTODERMAL DYSPLASIA-IMMUNODEFICIENCY-OSTEOPETROSIS-LYMPHEDEMA SYNDROME Is also known as ol-eda-id

Related symptoms:

  • Fever
  • Immunodeficiency
  • Recurrent infections
  • Ectodermal dysplasia
  • Lymphedema


SOURCES: MESH ORPHANET OMIM MENDELIAN

More info about ANHIDROTIC ECTODERMAL DYSPLASIA-IMMUNODEFICIENCY-OSTEOPETROSIS-LYMPHEDEMA SYNDROME

IMD33 results from X-linked recessive NEMO deficiency, which is associated with various other diseases, including immunodeficiency with hypohidrotic ectodermal dysplasia (OMIM ), together with osteopetrosis and lymphedema (OMIM ) in some patients, and immunodeficiency without ectodermal dysplasia (OMIM ). In contrast with patients with these other forms of X-linked recessive NEMO deficiency, who display a broad susceptibility to infections, infections in IMD33 patients are mostly limited to mycobacterial disease, with M. avium complex being the most common cause. Furthermore, IMD33 patients lack developmental features suggestive of hypohidrotic ectodermal dysplasia. Monocytes from IMD33 patients have intrinsic defects in T cell-dependent IL12 (see {161561}) production, resulting in impaired IFNG (OMIM ) production. The prognosis of IMD33 patients is variable (review by Al-Muhsen and Casanova, 2008).

X-LINKED MENDELIAN SUSCEPTIBILITY TO MYCOBACTERIAL DISEASES DUE TO IKBKG DEFICIENCY Is also known as atypical mycobacteriosis, familial, x-linked 1|x-linked mendelian susceptibility to mycobacterial diseases due to nemo deficiency|immunodeficiency 33, mycobacteriosis, x-linked|amcbx1|x-linked msmd due to ikbkg deficiency|x-linked msmd due to nemo deficie

Related symptoms:

  • Immunodeficiency
  • Recurrent infections
  • Delayed eruption of teeth
  • Ectodermal dysplasia
  • Lymphedema


SOURCES: MESH ORPHANET OMIM MENDELIAN

More info about X-LINKED MENDELIAN SUSCEPTIBILITY TO MYCOBACTERIAL DISEASES DUE TO IKBKG DEFICIENCY

IMMUNODEFICIENCY WITHOUT ANHIDROTIC ECTODERMAL DYSPLASIA Is also known as immunodeficiency, isolated|immunodeficiency, pure

Related symptoms:

  • Anemia
  • Immunodeficiency
  • Pneumonia
  • Hemolytic anemia
  • Sepsis


SOURCES: OMIM MESH MENDELIAN

More info about IMMUNODEFICIENCY WITHOUT ANHIDROTIC ECTODERMAL DYSPLASIA

Other less relevant matches:

Hypohidrotic ectodermal dysplasia with immunodeficiency (HED-ID) is a type of HED (see this term) characterized by the malformation of ectodermal structures such as skin, hair, teeth and sweat glands, and associated with immunodeficiency.

HYPOHIDROTIC ECTODERMAL DYSPLASIA WITH IMMUNODEFICIENCY Is also known as hed-id|anhidrotic ectodermal dysplasia with immunodeficiency|eda-id

Related symptoms:

  • Failure to thrive
  • Diarrhea
  • Immunodeficiency
  • Recurrent infections
  • Pneumonia


SOURCES: ORPHANET OMIM MENDELIAN

More info about HYPOHIDROTIC ECTODERMAL DYSPLASIA WITH IMMUNODEFICIENCY

Epidermolysis bullosa simplex due to plakophilin deficiency (EBS-PD) is a suprabasal subtype of epidermolysis bullosa simplex (EBS, see this term) characterized by generalized superficial erosions and less commonly blistering.

EPIDERMOLYSIS BULLOSA SIMPLEX DUE TO PLAKOPHILIN DEFICIENCY Is also known as mcgrath syndrome|ectodermal dysplasia-skin fragility syndrome

Related symptoms:

  • Failure to thrive
  • Immunodeficiency
  • Alopecia
  • Hyperhidrosis
  • Hyperkeratosis


SOURCES: OMIM MESH ORPHANET MENDELIAN

More info about EPIDERMOLYSIS BULLOSA SIMPLEX DUE TO PLAKOPHILIN DEFICIENCY

Mutations in the NFKBIA gene result in functional impairment of NFKB1 (OMIM ), a master transcription factor required for normal activation of immune responses. Interruption of NFKB1 signaling results in decreased production of proinflammatory cytokines and certain interferons, rendering patients susceptible to infection (McDonald et al., 2007).

Related symptoms:

  • Growth delay
  • Failure to thrive
  • Delayed speech and language development
  • Frontal bossing
  • Diarrhea


SOURCES: OMIM MESH MENDELIAN

More info about ECTODERMAL DYSPLASIA, ANHIDROTIC, WITH T-CELL IMMUNODEFICIENCY, AUTOSOMAL DOMINANT

Combined immunodeficiency (CID) due to ORAI1 deficiency is a form of CID due to Calcium release activated Ca2+ (CRAC) channel dysfunction (see this term) characterized by recurrent infections, congenital myopathy, ectodermal dysplasia and anhydrosis.

COMBINED IMMUNODEFICIENCY DUE TO ORAI1 DEFICIENCY Is also known as cid due to orai1 deficiency|immune dysfunction with t-cell inactivation due to calcium entry defect 1

Related symptoms:

  • Seizures
  • Global developmental delay
  • Generalized hypotonia
  • Failure to thrive
  • Muscle weakness


SOURCES: OMIM MESH ORPHANET MENDELIAN

More info about COMBINED IMMUNODEFICIENCY DUE TO ORAI1 DEFICIENCY

Some ectodermal dysplasias are here classified as congenital disorders characterized by abnormal development in 2 or more ectodermal structures (hair, nails, teeth, and sweat glands) without other systemic findings.Hypohidrotic, or anhidrotic, ectodermal dysplasia (HED/EDA) is characterized by a triad of signs comprising sparse hair (hypotrichosis), abnormal or missing teeth (anodontia or hypodontia), and inability to sweat (anhidrosis or hypohidrosis). Typical clinical manifestations also include dryness of the skin, eyes, airways, and mucous membranes presumably due to the defective development of several exocrine glands. Hypohidrotic ectodermal dysplasia can be associated with dysmorphic features (forehead bumps, rings under the eyes, everted nose, and prominent lips) and occasionally with absent nipples. Ectodermal dysplasia-1, due to mutation in the EDA gene, is the most frequent form of hypohidrotic ectodermal dysplasia (summary by Cluzeau et al., 2011).

X-LINKED HYPOHIDROTIC ECTODERMAL DYSPLASIA Is also known as xhed|ectd1|cst syndrome|ed1|christ-siemens-touraine syndrome|eda1|eda|ectodermal dysplasia, anhidrotic, x-linked|ectodermal dysplasia, hypohidrotic, 1|x-linked anhidrotic ectodermal dysplasia|hed1|xlhed|ectodermal dysplasia 1, hypohidrotic/hair/tooth type

Related symptoms:

  • Intellectual disability
  • Feeding difficulties
  • Depressed nasal bridge
  • Hypertension
  • Fever


SOURCES: OMIM ORPHANET MENDELIAN

More info about X-LINKED HYPOHIDROTIC ECTODERMAL DYSPLASIA

Medium 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

ECTRODACTYLY, ECTODERMAL DYSPLASIA, AND CLEFT LIP/PALATE SYNDROME 1; EEC1 Is also known as eec|eec syndrome 1

Related symptoms:

  • Intellectual disability
  • Hearing impairment
  • Microcephaly
  • Hypertelorism
  • Cleft palate


SOURCES: OMIM MENDELIAN

More info about ECTRODACTYLY, ECTODERMAL DYSPLASIA, AND CLEFT LIP/PALATE SYNDROME 1; EEC1

Top 5 symptoms//phenotypes associated to Immunodeficiency and Ectodermal dysplasia

Symptoms // Phenotype % cases
Recurrent infections Common - Between 50% and 80% cases
Fever Uncommon - Between 30% and 50% cases
Failure to thrive Uncommon - Between 30% and 50% cases
Hypohidrotic ectodermal dysplasia Uncommon - Between 30% and 50% cases
Heat intolerance Uncommon - Between 30% and 50% cases

Other less frequent symptoms

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

Uncommon Symptoms - Between 30% and 50% cases

Hypodontia Pneumonia Dry skin Conical tooth Anhidrotic ectodermal dysplasia Delayed eruption of teeth Intellectual disability Chronic diarrhea Hypoplastic nipples Hyperkeratosis Recurrent respiratory infections Alopecia Sparse hair Diarrhea Anodontia Lymphedema Sparse scalp hair Hypohidrosis Anhidrosis Bronchiectasis

Rare Symptoms - Less than 30% cases

Osteopetrosis Sparse eyelashes Microdontia Nail pits Blepharitis Absent eyelashes Frontal bossing Hypoplasia of the thymus Fine hair Seizures Thin skin Sparse and thin eyebrow Epiphora Respiratory tract infection Hypoplasia of the maxilla Spasticity Erythema Microcephaly Nail dysplasia Keratitis Hyperhidrosis Abnormality of the dentition Sepsis Hypotrichosis Periorbital wrinkles Abnormal blistering of the skin Micropenis Conductive hearing impairment Hydronephrosis Photophobia Telecanthus Atrophic, patchy alopecia Inguinal hernia Polydactyly Posteriorly rotated ears Cleft palate Hearing impairment Hypertelorism Syndactyly Malar flattening Cryptorchidism Retinal vascular proliferation Thick nail Hyperpigmented streaks Hyperostosis Abnormality of skin pigmentation Retinal detachment Hypopigmentation of the skin Tetraplegia Nevus Hyperpigmentation of the skin Increased bone mineral density Hemivertebrae Eosinophilia Coarse hair Supernumerary nipple Retinal hemorrhage Uveitis Pustule Abnormality of the vasculature Hypoplasia of the fovea Ridged nail Generalized osteosclerosis Breast hypoplasia Breast aplasia Supernumerary ribs Scarring alopecia of scalp Cleft lip Split hand Blepharophimosis Recurrent corneal erosions Xerostomia Split foot Bilateral cleft lip Depressed nasal tip Blue irides Fair hair Generalized hypopigmentation Sparse axillary hair Dysuria Rectovaginal fistula Sparse pubic hair Bladder diverticulum Hypopituitarism Central diabetes insipidus Selective tooth agenesis Nasolacrimal duct obstruction Duplicated collecting system Abnormality of the nasopharynx Ureterocele Semilobar holoprosencephaly Dacryocystitis Urethral atresia Abnormal salivary gland morphology Transverse vaginal septum Absence of Stensen duct Ectrodactyly Absent septum pellucidum Microtia Renal agenesis Short philtrum Small for gestational age Carious teeth Toe syndactyly Abnormality of the foot Anal atresia Cleft upper lip Oral cleft Pulmonary hypoplasia Broad nasal tip Vesicoureteral reflux Growth hormone deficiency Oligohydramnios Hydroureter Choanal atresia Nail dystrophy Omphalocele Abnormality of the genital system Renal dysplasia Hypogonadotrophic hypogonadism Conjunctivitis Oligodontia Abnormality of the genitourinary system Abnormality of the urinary system Preaxial polydactyly Hand polydactyly Malabsorption Rhinitis Papule Muscle weakness Arthritis Leukocytosis Agammaglobulinemia Concave nasal ridge Lymphocytosis Recurrent infection of the gastrointestinal tract Aplasia of the sweat glands Defective production of NFKB1-dependent cytokines Global developmental delay Generalized hypotonia Abnormal facial shape Delayed speech and language development Muscular hypotonia Talipes equinovarus Myopathy Thrombocytopenia Pectus excavatum Encephalopathy Difficulty walking Lymphadenopathy Neutropenia Hypocalcemia Hepatosplenomegaly Growth delay Encephalitis Pulmonary insufficiency Recurrent bacterial infections Anemia Hemolytic anemia Autoimmune hemolytic anemia IgA deficiency IgG deficiency Increased IgM level Impaired memory B cell generation Recurrent mycobacterium avium complex infections Recurrent skin infections Intractable diarrhea Furrowed tongue Dysgammaglobulinemia Pruritus Palmoplantar keratoderma Skin ulcer Abnormality of the nail Palmoplantar hyperkeratosis Scaling skin Skin vesicle Fragile skin Abnormal eyebrow morphology Woolly hair Respiratory insufficiency due to muscle weakness Gowers sign Skin rash Aplasia/Hypoplastia of the eccrine sweat glands Agenesis of permanent teeth Sparse body hair Soft skin Taurodontia Anterior hypopituitarism Concave nail Absent nipple Abnormal oral mucosa morphology Everted upper lip vermilion Periorbital hyperpigmentation Hypoplastic-absent sebaceous glands Absent eyebrow Short stature Neoplasm Strabismus Cataract Visual impairment Optic atrophy Microphthalmia Visual loss Kyphoscoliosis Pallor Scarring Aplasia/Hypoplasia of the eyebrow Brittle hair Episodic fever Intellectual disability, severe Amelogenesis imperfecta Progressive encephalopathy Stomatitis Recurrent aphthous stomatitis Pyelonephritis Protracted diarrhea Feeding difficulties Depressed nasal bridge Hypertension Respiratory distress Short nose Prominent supraorbital ridges Prominent forehead Short distal phalanx of finger Thick vermilion border Everted lower lip vermilion Underdeveloped nasal alae Eczema Depressed nasal ridge Hoarse voice Type I diabetes mellitus Short chin Dysphonia Slow-growing scalp hair


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