Immunodeficiency, and Skin rash

Diseases related with Immunodeficiency and Skin rash

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


Top matches:

Medium match IMMUNODEFICIENCY, COMMON VARIABLE, 6; CVID6


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

Medium match PYOGENIC BACTERIAL INFECTIONS DUE TO MYD88 DEFICIENCY


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

Medium match SUSCEPTIBILITY TO VIRAL AND MYCOBACTERIAL INFECTIONS


Susceptibility to viral and mycobacterial infections is a rare, genetic, primary immunodeficiency due to a defect in innate immunity disorder characterized by impaired intracellular signaling from both type I and type II interferons, leading to early-onset, severe, life-threatening intracellular bacterial (typically mycobacteria) and viral (mainly herpes viruses) infections.

SUSCEPTIBILITY TO VIRAL AND MYCOBACTERIAL INFECTIONS Is also known as immunodeficiency 31b, mycobacterial and viral infections, autosomal recessive|stat1 deficiency, autosomal recessive|stat1 deficiency

Related symptoms:

  • Seizures
  • Respiratory distress
  • Blindness
  • Immunodeficiency
  • Hepatosplenomegaly


SOURCES: OMIM ORPHANET MENDELIAN

More info about SUSCEPTIBILITY TO VIRAL AND MYCOBACTERIAL INFECTIONS

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Other less relevant matches:

Medium match X-LINKED MENDELIAN SUSCEPTIBILITY TO MYCOBACTERIAL DISEASES DUE TO CYBB DEFICIENCY


Autosomal recessive cytochrome b-positive chronic granulomatous disease (CGD) type III is a immunodeficiency disorder characterized by recurrent pyogenic infections and granulomatous inflammation resulting from loss of phagocyte superoxide production (summary by Matute et al., 2009).For a general phenotypic description and a discussion of genetic heterogeneity of chronic granulomatous disease, see the well-established X-linked recessive cytochrome b-negative form (CGD ).

X-LINKED MENDELIAN SUSCEPTIBILITY TO MYCOBACTERIAL DISEASES DUE TO CYBB DEFICIENCY Is also known as granulomatous disease, chronic, due to ncf4 deficiency|cgd, autosomal recessive cytochrome b-positive, type iii|x-linked msmd due to cybb deficiency

Related symptoms:

  • Fever
  • Diarrhea
  • Immunodeficiency
  • Skin rash
  • Eczema


SOURCES: OMIM ORPHANET MENDELIAN

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

Medium match INFANTILE-ONSET PERIODIC FEVER-PANNICULITIS-DERMATOSIS SYNDROME


Autoinflammation, panniculitis, and dermatosis syndrome (AIPDS) is an autosomal recessive autoinflammatory disease characterized by neonatal onset of recurrent fever, erythematous rash with painful nodules, painful joints, and lipodystrophy. Additional features may include diarrhea, increased serum C-reactive protein, leukocytosis, and neutrophilia in the absence of any infection. Patients exhibit no overt primary immunodeficiency (Damgaard et al., 2016 and Zhou et al., 2016).

INFANTILE-ONSET PERIODIC FEVER-PANNICULITIS-DERMATOSIS SYNDROME Is also known as otulipenia|oras|otulin deficiency|otulin-related autoinflammatory syndrome

Related symptoms:

  • Failure to thrive
  • Fever
  • Diarrhea
  • Immunodeficiency
  • Arthralgia


SOURCES: ORPHANET OMIM MENDELIAN

More info about INFANTILE-ONSET PERIODIC FEVER-PANNICULITIS-DERMATOSIS SYNDROME

Medium match GRANULOMATOUS DISEASE, CHRONIC, AUTOSOMAL RECESSIVE, CYTOCHROME B-POSITIVE, TYPE I; CDG1


GRANULOMATOUS DISEASE, CHRONIC, AUTOSOMAL RECESSIVE, CYTOCHROME B-POSITIVE, TYPE I; CDG1 Is also known as cgd, autosomal recessive cytochrome b-positive, type i|neutrophil cytosol factor 1, deficiency of|soc2, deficiency of|p47-phox, deficiency of|soluble oxidase component ii, deficiency of|ncf1, deficiency of|granulomatous disease, chronic, due to ncf1 defic

Related symptoms:

  • Hepatomegaly
  • Splenomegaly
  • Immunodeficiency
  • Pneumonia
  • Lymphadenopathy


SOURCES: OMIM MENDELIAN

More info about GRANULOMATOUS DISEASE, CHRONIC, AUTOSOMAL RECESSIVE, CYTOCHROME B-POSITIVE, TYPE I; CDG1

Medium match GRANULOMATOUS DISEASE, CHRONIC, AUTOSOMAL RECESSIVE, CYTOCHROME B-POSITIVE, TYPE II; CDG2


GRANULOMATOUS DISEASE, CHRONIC, AUTOSOMAL RECESSIVE, CYTOCHROME B-POSITIVE, TYPE II; CDG2 Is also known as ncf2, deficiency of|granulomatous disease, chronic, due to ncf2 deficiency|cgd, autosomal recessive cytochrome b-positive, type ii|neutrophil cytosol factor 2, deficiency of|p67-phox, deficiency of

Related symptoms:

  • Hepatomegaly
  • Splenomegaly
  • Immunodeficiency
  • Recurrent infections
  • Pneumonia


SOURCES: OMIM MENDELIAN

More info about GRANULOMATOUS DISEASE, CHRONIC, AUTOSOMAL RECESSIVE, CYTOCHROME B-POSITIVE, TYPE II; CDG2

Medium match PLATELET ABNORMALITIES WITH EOSINOPHILIA AND IMMUNE-MEDIATED INFLAMMATORY DISEASE; PLTEID


PLTEID is an autosomal recessive immune-mediated inflammatory disease with highly variable manifestations. More severely affected individuals have recurrent infections, vasculitis, and thrombocytopenia, whereas other patients have mild vasculitis and normal numbers of small platelets without severe infections. Laboratory studies show platelets with abnormal shape, decreased dense granules, and impaired spreading ability, as well as immune dysregulation with increased eosinophils, B cells, IgA and IgE, and autoantibodies (summary by Kahr et al., 2017).

Related symptoms:

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


SOURCES: OMIM MENDELIAN

More info about PLATELET ABNORMALITIES WITH EOSINOPHILIA AND IMMUNE-MEDIATED INFLAMMATORY DISEASE; PLTEID

Medium match T-B+ SEVERE COMBINED IMMUNODEFICIENCY DUE TO IL-7RALPHA DEFICIENCY


T-B+ SEVERE COMBINED IMMUNODEFICIENCY DUE TO IL-7RALPHA DEFICIENCY Is also known as scid, autosomal recessive, t cell-negative, b cell-positive, nk cell-positive|t-b+ scid due to il-7ralpha deficiency

Related symptoms:

  • Growth delay
  • Failure to thrive
  • Hepatomegaly
  • Fever
  • Diarrhea


SOURCES: OMIM MESH ORPHANET MENDELIAN

More info about T-B+ SEVERE COMBINED IMMUNODEFICIENCY DUE TO IL-7RALPHA DEFICIENCY

Medium match IMMUNODEFICIENCY 57; IMD57


Related symptoms:

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


SOURCES: OMIM MENDELIAN

More info about IMMUNODEFICIENCY 57; IMD57

Top 5 symptoms//phenotypes associated to Immunodeficiency and Skin rash

Symptoms // Phenotype % cases
Lymphadenopathy Uncommon - Between 30% and 50% cases
Diarrhea Uncommon - Between 30% and 50% cases
Failure to thrive Uncommon - Between 30% and 50% cases
Fever Uncommon - Between 30% and 50% cases
Hepatomegaly Uncommon - Between 30% and 50% cases
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Other less frequent symptoms

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

Uncommon Symptoms - Between 30% and 50% cases


Vasculitis Splenomegaly Pneumonia Recurrent bacterial skin infections Recurrent infections Hepatosplenomegaly Inflammation of the large intestine

Rare Symptoms - Less than 30% cases


Recurrent Serratia marcescens infections Rectal abscess Recurrent pneumonia Osteomyelitis Cellulitis Eczematoid dermatitis Discoid lupus rash Liver abscess Recurrent Burkholderia cepacia infections Lymphadenitis Recurrent Staphylococcus aureus infections Recurrent Klebsiella infections Negative nitroblue tetrazolium reduction test Decreased activity of NADPH oxidase Recurrent E. coli infections Absence of bactericidal oxidative respiratory burst in phagocytes Recurrent Aspergillus infections Granulomatosis Thrombocytopenia Arthralgia Eczema Decreased antibody level in blood Recurrent bacterial infections Immune dysregulation Abnormal thrombocyte morphology Antinuclear antibody positivity Pancytopenia Lymphocytosis Decreased mean platelet volume Cervical lymphadenopathy Growth delay Gastroesophageal reflux Cough Elevated erythrocyte sedimentation rate Otitis media Inflammatory abnormality of the skin Asthma Recurrent otitis media Increased body weight Severe combined immunodeficiency Decrease in T cell count Oral ulcer Recurrent opportunistic infections Failure to thrive secondary to recurrent infections Vomiting Arthritis Abnormal lung morphology Bronchiectasis Lymphopenia Chronic lung disease Gastritis Eosinophilia Myalgia Lung abscess Sinusitis Perianal rash Perioral eczema Lipodystrophy Leukocytosis Joint swelling Neutrophilia Panniculitis Low-grade fever Recurrent aphthous stomatitis Recurrent sinusitis Recurrent skin infections Colitis Renal insufficiency Perianal abscess Herpes simplex encephalitis Recurrent mycobacterial infections Encephalitis Shock Blindness Respiratory distress Seizures Glomerulonephritis Purpura Proteinuria Recurrent respiratory infections Respiratory tract infection Scarring Bloody diarrhea



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