Immunodeficiency, and Atopic dermatitis

Diseases related with Immunodeficiency and Atopic dermatitis

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

Top matches:

Immunodeficiency-55 is an autosomal recessive primary immunodeficiency characterized by intrauterine growth retardation, natural killer (NK) cell deficiency, and chronic neutropenia. Most patients also have postnatal growth retardation. Other clinical manifestations include mild facial dysmorphism, dry or eczematous skin, and recurrent infections with both viruses and bacteria. The disorder appears to result from a defect in DNA replication causing blockade of immune cell differentiation in the bone marrow, particularly affecting NK cells (summary by Cottineau et al., 2017).

COMBINED IMMUNODEFICIENCY DUE TO GINS1 DEFICIENCY Is also known as cid due to gins1 deficiency|combined immunodeficiency with intrauterine growth retardation-natural killer cell deficiency-neutropenia|combined immunodeficiency with intrauterine growth retardation-nk cell deficiency-neutropenia

Related symptoms:

  • Growth delay
  • Abnormal facial shape
  • Anemia
  • Intrauterine growth retardation
  • Blindness


SOURCES: OMIM ORPHANET MENDELIAN

More info about COMBINED IMMUNODEFICIENCY DUE TO GINS1 DEFICIENCY

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

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:

Autosomal dominant hyper-IgE recurrent infection syndrome (OMIM ) is a primary immunodeficiency disorder characterized by recurrent Staphylococcus aureus skin abscesses, increased serum IgE, and abnormalities of the connective tissue, skeleton, and dentition (Buckley et al., 1972; Grimbacher et al., 1999).The autosomal recessive form shares hyper-IgE, eosinophilia, and recurrent Staphylococcal infections, but is distinguished from autosomal dominant HIES by the lack of connective tissue and skeletal involvement (Renner et al., 2004).See also TYK2 deficiency (OMIM ), a clinically distinct disease entity that includes characteristic features of both autosomal recessive HIES and mendelian susceptibility to mycobacterial disease (MSMD ) (Minegishi et al., 2006).

HYPER-IGE RECURRENT INFECTION SYNDROME, AUTOSOMAL RECESSIVE Is also known as hyper-ige syndrome, autosomal recessive|hies, autosomal recessive

Related symptoms:

  • Neoplasm
  • Anemia
  • Abnormality of the dentition
  • Immunodeficiency
  • Recurrent infections


SOURCES: OMIM ORPHANET MENDELIAN

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

Medium match PGM3-CDG

PGM3-CDG is a rare congenital disorder of glycosylation caused by mutations in the PGM3 gene and characterized by neonatal to childhood onset of recurrent bacterial and viral infections, inflammatory skin diseases, atopic dermatitis and atopic diatheses, and marked serum IgE elevation. Early neurologic impairment is evident including developmental delay, intellectual disability, ataxia, dysarthria, sensorineural hearing loss, myoclonus and seizures.

PGM3-CDG Is also known as cid due to pgm3 deficiency|immunodeficiency with hyper ige and cognitive impairment|pgm3-related congenital disorder of glycosylation|combined immunodeficiency due to pgm3 deficiency|immunodeficiency-vasculitis-myoclonus syndrome|ivms

Related symptoms:

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


SOURCES: OMIM ORPHANET MENDELIAN

More info about PGM3-CDG

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

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

IMD50 is an X-linked recessive primary immunodeficiency characterized by the onset of recurrent bacterial or varicella zoster virus (VZV) infections in early childhood. Laboratory studies show profound lymphopenia, hypogammaglobulinemia, poor immune response to vaccine antigens, and fluctuating neutropenia. The disorder does not affect overall patient survival (summary by Lagresle-Peyrou et al., 2016).

COMBINED IMMUNODEFICIENCY DUE TO MOESIN DEFICIENCY Is also known as cid due to moesin deficiency|msn-related combined immunodeficiency|immunodeficiency 50, x-linked recessive|x-linked moesin-associated immunodeficiency

Related symptoms:

  • Immunodeficiency
  • Recurrent respiratory infections
  • Neutropenia
  • Decreased antibody level in blood
  • Eczema


SOURCES: OMIM ORPHANET MENDELIAN

More info about COMBINED IMMUNODEFICIENCY DUE TO MOESIN DEFICIENCY

IMMUNODEFICIENCY, COMMON VARIABLE, 6; CVID6 Is also known as antibody deficiency due to cd81 defect

Related symptoms:

  • Hepatomegaly
  • Renal insufficiency
  • Immunodeficiency
  • Thrombocytopenia
  • Recurrent respiratory infections


SOURCES: OMIM MENDELIAN

More info about IMMUNODEFICIENCY, COMMON VARIABLE, 6; CVID6

CANDIDIASIS, FAMILIAL, 4; CANDF4 Is also known as candidiasis, familial chronic mucocutaneous

Related symptoms:

  • Immunodeficiency
  • Onychomycosis
  • Recurrent vulvovaginal candidiasis


SOURCES: OMIM MENDELIAN

More info about CANDIDIASIS, FAMILIAL, 4; CANDF4

Top 5 symptoms//phenotypes associated to Immunodeficiency and Atopic dermatitis

Symptoms // Phenotype % cases
Eczema Common - Between 50% and 80% cases
Inflammatory abnormality of the skin Common - Between 50% and 80% cases
Recurrent infections Common - Between 50% and 80% cases
Hemolytic anemia Uncommon - Between 30% and 50% cases
Recurrent respiratory infections Uncommon - Between 30% and 50% cases

Other less frequent symptoms

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

Uncommon Symptoms - Between 30% and 50% cases

Anemia Neutropenia Recurrent skin infections Recurrent bacterial infections Respiratory tract infection Abnormal lung morphology Autoimmune hemolytic anemia Lymphopenia Decreased antibody level in blood Abnormal intestine morphology Lymphadenopathy Asthma Abnormality of the dentition Hypothyroidism Pneumonia Recurrent fungal infections

Rare Symptoms - Less than 30% cases

Thrombocytopenia Arthralgia Short stature Skin rash Recurrent viral infections Esophagitis Coarse facial features Recurrent sinusitis Otitis media Sinusitis Eosinophilia Combined immunodeficiency Abnormal facial shape Recurrent sinopulmonary infections Scoliosis Glomerulonephritis High palate Lymphoma Abnormality of the skeletal system Erythema Increased antibody level in blood Decrease in T cell count Hepatomegaly Onychomycosis Type I diabetes mellitus Diarrhea Bronchiectasis Hepatosplenomegaly Recurrent bacterial skin infections Diabetes mellitus Hypertelorism Strabismus Impaired neutrophil chemotaxis Wide nasal bridge B lymphocytopenia Frontal bossing Squamous cell carcinoma of the vulva Constipation Prominent forehead Anal canal squamous carcinoma Osteoporosis Dysphagia Autoimmune neutropenia Cortical myoclonus Mandibular prognathia Vasculitis in the skin Membranoproliferative glomerulonephritis Allergic rhinitis Severe combined immunodeficiency Fever Recurrent urinary tract infections Leukopenia Narrow palpebral fissure Vasculitis Renal insufficiency Sensory impairment Proteinuria Purpura Lung abscess Osteopenia Opportunistic infection T-cell lymphoma Persistence of primary teeth Red hair Increased IgE level Verrucae Hemihypertrophy Fractures of the long bones Chronic mucocutaneous candidiasis Recurrent bronchitis Bronchitis Conductive hearing impairment Squamous cell carcinoma Chronic otitis media Urticaria Hemivertebrae Recurrent candida infections Eczematoid dermatitis Skin ulcer Thick lower lip vermilion Prominent nose Recurrent fractures Wide nose Joint hypermobility Facial asymmetry Pruritus Cough Severe viral infections Craniosynostosis Deeply set eye Recurrent Staphylococcus aureus infections Abnormality of the nervous system Growth delay Gastroesophageal reflux Alopecia Pain Chronic hemolytic anemia Granulocytopenia Bronchiolitis Immune dysregulation Villous atrophy Chronic lung disease Antinuclear antibody positivity Gingivitis Iron deficiency anemia Thyroiditis IgA deficiency Psoriasiform dermatitis Chronic diarrhea Splenomegaly Autoimmunity Ichthyosis Intrauterine growth retardation Blindness Glaucoma Respiratory failure Postnatal growth retardation Dry skin Myelodysplasia Respiratory insufficiency Erythroderma Severe intrauterine growth retardation Osteosarcoma Protein-losing enteropathy Folliculitis Erythroid dysplasia Arthritis Leukemia Myoclonus Cerebral vasculitis Hyporeflexia Brachydactyly Dysarthria Cognitive impairment Sensorineural hearing impairment Failure to thrive Ataxia Hearing impairment Generalized hypotonia Global developmental delay Seizures Intellectual disability Anaphylactic shock Recurrent upper and lower respiratory tract infections Recurrent lower respiratory tract infections Delayed puberty Primary hypothyroidism Interstitial pulmonary abnormality Colitis Celiac disease Scleroderma Autoimmune thrombocytopenia Recurrent ear infections Interstitial pneumonitis Subarachnoid hemorrhage Neoplasm Recurrent otitis media Meningitis Hemiplegia Osteomyelitis Pericarditis Recurrent vulvovaginal candidiasis


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