Immunodeficiency, and Type I diabetes mellitus

Diseases related with Immunodeficiency and Type I diabetes mellitus

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

Top matches:

Immunodeficiency due to CD25 deficiency is a rare, genetic, primary immunodeficiency due to a defect in adaptive immunity disorder characterized by severe immunodeficiency, presenting with profound susceptibility to viral, fungal and bacterial infections due to impaired CD25-mediated T-regulatory cell function, in association with severe autoimmune disease, such as alopecia universalis, erythrodermia, and autoimmune thyroiditis and enteropathy.

IMMUNODEFICIENCY DUE TO CD25 DEFICIENCY Is also known as cd25 deficiency|interleukin 2 receptor, alpha, deficiency of|interleukin-2 receptor alpha chain deficiency|il2ra deficiency

Related symptoms:

  • Anemia
  • Hepatomegaly
  • Respiratory insufficiency
  • Diarrhea
  • Splenomegaly


SOURCES: MESH ORPHANET OMIM MENDELIAN

More info about IMMUNODEFICIENCY DUE TO CD25 DEFICIENCY

Immunodysregulation - polyendocrinopathy - enteropathy - X-linked (IPEX) syndrome is a severe congenital systemic autoimmune disease characterized by refractory diarrhea, endocrinopathies, cutaneous involvement, and infections.

IMMUNE DYSREGULATION-POLYENDOCRINOPATHY-ENTEROPATHY-X-LINKED SYNDROME Is also known as enteropathy, autoimmune, with hemolytic anemia and polyendocrinopathy|ipex|autoimmune enteropathy type 1|iddm-secretory diarrhea syndrome|x-linked autoimmunity-allergic dysregulation syndrome|polyendocrinopathy, immune dysfunction, and diarrhea, x-linked|

Related symptoms:

  • Growth delay
  • Failure to thrive
  • Anemia
  • Intrauterine growth retardation
  • Diarrhea


SOURCES: MESH OMIM ORPHANET MENDELIAN

More info about IMMUNE DYSREGULATION-POLYENDOCRINOPATHY-ENTEROPATHY-X-LINKED SYNDROME

Infantile-onset multisystem autoimmune disease-1 is characterized by early childhood onset of a spectrum of autoimmune disorders affecting multiple organs. Common manifestations include insulin-dependent diabetes mellitus and autoimmune enteropathy, or celiac disease, and autoimmune hematologic disorders. Other features include short stature and nonspecific dermatitis. More variable features include hypothyroidism, autoimmune arthritis, and delayed puberty. Some patients may show recurrent infections. The disorder results from an inborn error of cytokine signaling (summary by Flanagan et al., 2014 and Milner et al., 2015). Genetic Heterogeneity of Infantile-Onset Multisystem Autoimmune DiseaseSee also ADMIO2 (OMIM ), caused by mutation in the ZAP70 gene (OMIM ) on chromosome 2q12.

Related symptoms:

  • Short stature
  • Pain
  • Anemia
  • Abnormality of the dentition
  • Immunodeficiency


SOURCES: OMIM ORPHANET MENDELIAN

More info about STAT3-RELATED EARLY-ONSET MULTISYSTEM AUTOIMMUNE DISEASE

Other less relevant matches:

COMBINED IMMUNODEFICIENCY-ENTEROPATHY SPECTRUM Is also known as cid-mia/early-onset ibd

Related symptoms:

  • Intrauterine growth retardation
  • Ventricular septal defect
  • Immunodeficiency
  • Polyhydramnios
  • Sparse hair


SOURCES: ORPHANET MENDELIAN

More info about COMBINED IMMUNODEFICIENCY-ENTEROPATHY SPECTRUM

Multiple intestinal atresia is a rare form of intestinal atresia characterized by the presence of numerous atresic segments in the small bowel (duodenum) or large bowel and leading to symptoms of intestinal obstruction: vomiting, abdominal bloating and inability to pass meconium in newborns.

MULTIPLE INTESTINAL ATRESIA Is also known as intestinal atresia, multiple|minat|intestinal atresia, multiple and/or inflammatory bowel disease with or without immunodeficiency|fipa|familial intestinal polyatresia syndrome

Related symptoms:

  • Growth delay
  • Anemia
  • Intrauterine growth retardation
  • Abnormality of the skeletal system
  • Ventricular septal defect


SOURCES: ORPHANET OMIM MESH MENDELIAN

More info about MULTIPLE INTESTINAL ATRESIA

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

Common variable immunodeficiency-8 with autoimmunity is an autosomal recessive disorder of immune dysregulation. Affected individuals have early childhood onset of recurrent infections, particularly respiratory infections, and also develop variable autoimmune disorders, including idiopathic thrombocytopenic purpura, autoimmune hemolytic anemia, and inflammatory bowel disease. The presentation and phenotype are highly variable, even within families (summary by Lopez-Herrera et al., 2012 and Alangari et al., 2012). Immunologic findings are also variable and may include decreased B cells, hypogammaglobulinemia, and deficiency of CD4+ T regulatory (Treg) cells (Charbonnier et al., 2015).For a general description and a discussion of genetic heterogeneity of common variable immunodeficiency, see CVID1 (OMIM ).

COMBINED IMMUNODEFICIENCY DUE TO LRBA DEFICIENCY Is also known as cid due to lrba deficiency

Related symptoms:

  • Growth delay
  • Neoplasm
  • Failure to thrive
  • Anemia
  • Diarrhea


SOURCES: OMIM ORPHANET MENDELIAN

More info about COMBINED IMMUNODEFICIENCY DUE TO LRBA DEFICIENCY

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

Shwachman-Diamond syndrome (SDS) is a rare multisystemic syndrome characterized by chronic and usually mild neutropenia, pancreatic exocrine insufficiency associated with steatorrhea and growth failure, skeletal dysplasia with short stature, and an increased risk of bone marrow aplasia or leukemic transformation.

SHWACHMAN-DIAMOND SYNDROME Is also known as pancreatic insufficiency and bone marrow dysfunction|shwachman syndrome|shwachman-bodian syndrome|shwachman-diamond syndrome|shwachman-bodian-diamond syndrome|sds|lipomatosis of pancreas, congenital

Related symptoms:

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


SOURCES: OMIM ORPHANET MENDELIAN

More info about SHWACHMAN-DIAMOND SYNDROME

Related symptoms:

  • Immunodeficiency
  • Diabetes mellitus
  • Decreased antibody level in blood
  • Psoriasiform dermatitis
  • Colitis


SOURCES: OMIM MENDELIAN

More info about IMMUNODEFICIENCY, COMMON VARIABLE, 14; CVID14

Top 5 symptoms//phenotypes associated to Immunodeficiency and Type I diabetes mellitus

Symptoms // Phenotype % cases
Anemia Common - Between 50% and 80% cases
Autoimmune hemolytic anemia Common - Between 50% and 80% cases
Diabetes mellitus Common - Between 50% and 80% cases
Autoimmunity Common - Between 50% and 80% cases
Abnormal intestine morphology Common - Between 50% and 80% cases

Other less frequent symptoms

Patients with Immunodeficiency and Type I diabetes mellitus. may also develop some of the following symptoms:

Common Symptoms - More than 50% cases

Hemolytic anemia

Uncommon Symptoms - Between 30% and 50% cases

Eczema

Common Symptoms - More than 50% cases

Recurrent infections

Uncommon Symptoms - Between 30% and 50% cases

Thrombocytopenia Diarrhea Growth delay Inflammatory abnormality of the skin Recurrent respiratory infections Hypothyroidism Respiratory tract infection Psoriasiform dermatitis Villous atrophy Decreased antibody level in blood Pneumonia Hepatosplenomegaly Sepsis Lymphadenopathy Immune dysregulation Hepatitis Thyroiditis Intrauterine growth retardation Autoimmune thrombocytopenia Hashimoto thyroiditis Inflammation of the large intestine Absent eyebrow Neutropenia Arthritis Short stature Sparse hair Abnormal lung morphology Lymphopenia Colitis Failure to thrive

Rare Symptoms - Less than 30% cases

Hypoplasia of the thymus Intestinal atresia Polyhydramnios Severe combined immunodeficiency Alopecia of scalp Omphalocele Intestinal malrotation Abdominal distention Nail dystrophy Bloody diarrhea Ventricular septal defect Interstitial pneumonitis Ectopic calcification Small for gestational age Rectal abscess Osteopenia Congestive heart failure Neoplasm Bronchiectasis Purpura Recurrent upper respiratory tract infections Exocrine pancreatic insufficiency Global developmental delay Delayed skeletal maturation Microdontia Jejunoileal ulceration Hepatomegaly Respiratory distress Intellectual disability Combined immunodeficiency Abnormality of the skeletal system Abnormality of the ductus choledochus Peritoneal abscess Congenital cystic adenomatoid malformation of the lung Gastrointestinal atresia Primary hypothyroidism Thickened skin Pancytopenia Alopecia Chronic lung disease Recurrent viral infections Decrease in T cell count Atopic dermatitis Recurrent bacterial infections Chronic diarrhea IgA deficiency Delayed puberty Abnormality of the dentition Splenomegaly Leukemia Interstitial pulmonary abnormality Irregular ossification at anterior rib ends Leukoencephalopathy Encephalitis Patent foramen ovale Pulmonary embolism Dilatation of the cerebral artery Abnormality of the endocrine system Recurrent otitis media Chronic mucocutaneous candidiasis Generalized osteoporosis B lymphocytopenia Metaphyseal dysostosis Antiphospholipid antibody positivity Myocardial necrosis Renovascular hypertension Renal artery stenosis Autoimmune neutropenia Enterocolitis Carcinoma Pulmonary arterial hypertension Cor pulmonale Clubbing Recurrent sinusitis Fatigable weakness Narrow sacroiliac notch Clubbing of fingers Brain neoplasm Verrucae IgM deficiency Conjunctivitis Gastritis Generalized lymphadenopathy Follicular hyperplasia Burkitt lymphoma Carotid artery dilatation Dilatation Proximal femoral epiphysiolysis Functional abnormality of the bladder Bone marrow hypocellularity Recurrent Aspergillus infections Myeloid leukemia Metaphyseal sclerosis Anterior rib cupping Metaphyseal chondrodysplasia Recurrent aphthous stomatitis Acute monocytic leukemia Aplastic anemia Ovoid vertebral bodies Acute myeloid leukemia Multiple lipomas Decreased liver function Steatorrhea Short thorax Neonatal respiratory distress Otitis media Metaphyseal widening Myelodysplasia Leukopenia Coxa vara Nephrocalcinosis Persistence of hemoglobin F Paroxysmal nocturnal hemoglobinuria Susceptibility to herpesvirus Skeletal dysplasia Oropharyngeal squamous cell carcinoma Esophageal carcinoma Short ribs Abnormal serum interferon-gamma level Generalized hypotonia Proximal femoral metaphyseal irregularity Scoliosis Gait disturbance Intellectual disability, mild Elevated hepatic transaminase Abnormality of the metaphysis Pectus carinatum Malabsorption Narrow chest Carious teeth Ichthyosis Generalized muscle weakness Specific learning disability Apraxia Enlargement of the costochondral junction Medial calcification of large arteries Ectodermal dysplasia Lymphoma Hematochezia Pain Arthralgia Celiac disease Scleroderma Recurrent ear infections Recurrent abscess formation Scarring Anal atresia Abnormality of abdomen morphology Duodenal atresia Intractable diarrhea Duodenal stenosis Microcolon Jejunal atresia Decreased proportion of CD8-positive T cells Feeding difficulties Depressed nasal bridge Hypertension Fever Frontal bossing Secretory diarrhea Pancreatic hypoplasia Short nose Chronic hemolytic anemia Respiratory insufficiency Increased antibody level in blood Iron deficiency anemia Gingivitis Antinuclear antibody positivity Esophagitis Bronchiolitis Recurrent fungal infections Granulocytopenia Nephrotic syndrome Ileus Cardiac arrest Eosinophilia Nephritis Erythroderma Hyperglycemia Abnormality of the coagulation cascade Malnutrition Abnormality of the thyroid gland Ketoacidosis Intellectual disability, severe Prominent forehead Asthma Concave nail Hypoplastic nipples Rhinitis Absent eyelashes Soft skin Taurodontia Anodontia Heat intolerance Conical tooth Anterior hypopituitarism Absent nipple Agenesis of permanent teeth Anhidrotic ectodermal dysplasia Hypohidrotic ectodermal dysplasia Abnormal oral mucosa morphology Everted upper lip vermilion Periorbital wrinkles Periorbital hyperpigmentation Aplasia/Hypoplastia of the eccrine sweat glands Hypoplastic-absent sebaceous glands Respiratory failure Sparse body hair Aplasia/Hypoplasia of the eyebrow Hyperhidrosis Sparse scalp hair Hypotrichosis Dry skin Short distal phalanx of finger Thick vermilion border Everted lower lip vermilion Delayed eruption of teeth Hypoplasia of the maxilla Hypodontia Underdeveloped nasal alae Depressed nasal ridge Anhidrosis Thin skin Hypohidrosis Sparse and thin eyebrow Hoarse voice Short chin Sparse eyelashes Dysphonia Prominent supraorbital ridges Brittle hair Recurrent sinopulmonary infections


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